New Directions in Gaucher Disease (Q38905996)

7 September 2017

1 reference

title

New Directions in Gaucher Disease (English)

1 reference

7 September 2017

0 references

Mia Horowitz

1

1 reference

7 September 2017

Deborah Elstein

series ordinal

2

1 reference

7 September 2017

Ari Zimran

series ordinal

3

1 reference

7 September 2017

Ozlem Goker-Alpan

series ordinal

4

1 reference

7 September 2017

23 July 2016

1 reference

7 September 2017

1 reference

7 September 2017

37

1 reference

7 September 2017

1121-1136

1 reference

7 September 2017

11

1 reference

Getting ready for building: signaling and autophagosome biogenesis.

7 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Therapeutic strategies for Gaucher disease: miglustat (NB-DNJ) as a pharmacological chaperone for glucocerebrosidase and the different thermostability of velaglucerase alfa and imiglucerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Bicyclic (galacto)nojirimycin analogues as glycosidase inhibitors: effect of structural modifications in their pharmacological chaperone potential towards β-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Pharmacological chaperone therapy for Gaucher disease: a patent review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher disease, a paradigm for single gene defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

X-linked Inhibitor of Apoptosis Protein promotes the degradation of its antagonist, the pro-apoptotic ARTS protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Pharmacological chaperones as therapeutics for lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Correction of lysosomal dysfunction as a therapeutic strategy for neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Cyclodextrin-mediated crystallization of acid β-glucosidase in complex with amphiphilic bicyclic nojirimycin analogues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Characterization of gene-activated human acid- -glucosidase: Crystal structure, glycan composition, and internalization into macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

p63 in epithelial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Rapid modifications of N-substitution in iminosugars: development of new β-glucocerebrosidase inhibitors and pharmacological chaperones for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Association of glucocerebrosidase mutations with dementia with lewy bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Pharmacological chaperones for human -N-acetylgalactosaminidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Chaperone-mediated autophagy: roles in disease and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The ubiquitin-proteasome system in neurodegenerative diseases: precipitating factor, yet part of the solution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Cloning and characterization of human liver cytosolic beta-glycosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Olfactory dysfunction in parkinsonism: A general deficit unrelated to neurologic signs, disease stage, or disease duration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Animal models for Gaucher disease research

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Induction and enhancement of cardiac cell differentiation from mouse and human induced pluripotent stem cells with cyclosporin-A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mitochondrial dysfunction associated with glucocerebrosidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The ubiquitin-proteasome proteolytic pathway: destruction for the sake of construction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Divergent phenotypes in Gaucher disease implicate the role of modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkinsonism among Gaucher disease carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The mitochondrial ARTS protein promotes apoptosis through targeting XIAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher's disease: molecular, genetic and enzymological aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

SREBF1 links lipogenesis to mitophagy and sporadic Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A systematic investigation of iminosugar click clusters as pharmacological chaperones for the treatment of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Side and type of motor symptom influence cognition in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Identification of far upstream element-binding protein-1 as an authentic Parkin substrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Accumulation of the authentic parkin substrate aminoacyl-tRNA synthetase cofactor, p38/JTV-1, leads to catecholaminergic cell death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Isolation and characterization of prosaposin from human milk

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Isofagomine induced stabilization of glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Non-canonical ubiquitin-based signals for proteasomal degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Endoplasmic reticulum stress: signaling the unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Detection of ligand binding hot spots on protein surfaces via fragment-based methods: application to DJ-1 and glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

New insights into the pharmacological chaperone activity of c2-substituted glucoimidazoles for the treatment of Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The E3 ubiquitin ligase Itch in T cell activation, differentiation, and tolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase mutations in subjects with parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The contribution of mutant GBA to the development of Parkinson disease in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Unfolded protein response in Gaucher disease: from human to Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Autophagic defects in aging: looking for an "emergency exit"?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Chaperone-mediated autophagy in aging and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Emerging insights into the mechanistic link between α-synuclein and glucocerebrosidase in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Itch: a HECT-type E3 ligase regulating immunity, skin and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Degradation of p63 by Itch.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The p53-Mdm2 module and the ubiquitin system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Variants associated with Gaucher disease in multiple system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

3-OMD and homocysteine plasma levels in parkinsonian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase deficits in sporadic Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Recent technical developments in the study of ER-associated degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

How early studies on secreted and membrane protein quality control gave rise to the ER associated degradation (ERAD) pathway: the early history of ERAD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A more efficient method to generate integration-free human iPS cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Treatment of lysosomal storage diseases: recent patents and future strategies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Binding of 3,4,5,6-Tetrahydroxyazepanes to the Acid-β-glucosidase Active Site: Implications for Pharmacological Chaperone Design for Gaucher Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Getting into position: the catalytic mechanisms of protein ubiquitylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkinsonism, dementia and glucocerebrosidase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The anterior olfactory nucleus in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mechanisms underlying ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Sphingolipid lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Recognition and ubiquitination of Notch by Itch, a hect-type E3 ubiquitin ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mitophagy mechanisms and role in human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Dopaminergic function and dopamine transporter binding assessed with positron emission tomography in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

A GCase chaperone improves motor function in a mouse model of synucleinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Cognitive impairment in 873 patients with idiopathic Parkinson's disease. Results from the German Study on Epidemiology of Parkinson's Disease with Dementia (GEPAD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Structure and evolution of the human prosaposin chromosomal gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Sphingolipid hydrolase activator proteins and their precursors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Amplification of Dihydrofolate Reductase Genes in Methotrexate-resistant Cultured Mouse Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Chaperone-mediated autophagy: dedicated saviour and unfortunate victim in the neurodegeneration arena

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Functional screening of pharmacological chaperones via restoration of enzyme activity upon denaturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Reconstruction of the hepatic artery with the middle colic artery is feasible in distal pancreatectomy with celiac axis resection: A case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant α-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The Cbl family proteins: ring leaders in regulation of cell signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Transient activation of c-MYC expression is critical for efficient platelet generation from human induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Ubiquitin, proteasome and parkin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Autophagy: principles and significance in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Side of onset of motor symptoms influences cognition in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase inhibitors: future drugs for the treatment of Gaucher disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Neuronal forms of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

RIPK3 as a potential therapeutic target for Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

The unfolded protein response: from stress pathway to homeostatic regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Dysregulation of protein trafficking in neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Patient-specific pluripotent stem cells become even more accessible

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Induced pluripotent stem cells: past, present, and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Alpha-1-C-octyl-1-deoxynojirimycin as a pharmacological chaperone for Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Broader Implications of Defining Standards for the Pluripotency of iPSCs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Differential expression of the human glucocerebrosidase-coding gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Treatment of Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Involvement of the 20S proteasome in the degradation of ornithine decarboxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.23056

1 reference

7 January 2021

Conformationally-Locked N-Glycosides with Selective β-Glucosidase Inhibitory Activity: Identification of a New Non-Iminosugar-Type Pharmacological Chaperone for Gaucher Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Peptides mimicking the unique ARTS-XIAP binding site promote apoptotic cell death in cultured cancer cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Docking and SAR studies of D- and L-isofagomine isomers as human β-glucocerebrosidase inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Protective effect of catechin in type I Gaucher disease cells by reducing endoplasmic reticulum stress

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Prognostic implications of the motor symptoms of Parkinson's disease with respect to clinical, computertomographic and psychometric parameters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

The unfolded protein response

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Inhibitor screening of pharmacological chaperones for lysosomal β-glucocerebrosidase by capillary electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Lacidipine remodels protein folding and Ca 2+ homeostasis in Gaucher's disease fibroblasts: a mechanism to rescue mutant glucocerebrosidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23056

7 January 2021

Identifiers

DOI

10.1002/HUMU.23056

1 reference

7 September 2017

1 reference