Genetic convergence of Parkinson's disease and lysosomal storage disorders (Q38237560)

31 August 2017

Genetic convergence of Parkinson's disease and lysosomal storage disorders (English)

1 reference

31 August 2017

1 reference

3

Joseph Jankovic

1 reference

31 August 2017

Hao Deng

1

1 reference

31 August 2017

Xiaofei Xiu

series ordinal

2

1 reference

31 August 2017

language of work or name

1 reference

7 August 2014

1 reference

31 August 2017

Molecular Neurobiology

1 reference

31 August 2017

51

1 reference

31 August 2017

1554-1568

1 reference

31 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/s12035-014-8832-4

31 August 2017

0 references

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

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Occurrence of Parkinson's syndrome in type I Gaucher disease

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Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.

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

21 January 2018

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

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Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations.

21 January 2018

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The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos.

21 January 2018

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Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

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

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Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.

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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

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Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China.

21 January 2018

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Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

21 January 2018

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

21 January 2018

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

21 January 2018

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Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population

21 January 2018

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

21 January 2018

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LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

21 January 2018

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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

21 January 2018

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Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

21 January 2018

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Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China

21 January 2018

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No association of GBA mutations and multiple system atrophy.

21 January 2018

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Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation

21 January 2018

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Niemann-Pick disease type C

21 January 2018

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Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C

21 January 2018

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Niemann-Pick disease type A presenting as unilateral tremors.

21 January 2018

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Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures

21 January 2018

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The diverse neurological features of Niemann-Pick disease type C: a report of two cases.

21 January 2018

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Heterozygous Niemann-Pick disease type C presenting with tremor.

21 January 2018

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Functional implications of novel human acid sphingomyelinase splice variants

21 January 2018

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Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

21 January 2018

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Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration.

21 January 2018

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Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice

21 January 2018

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Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

21 January 2018

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Regulation of ceramide-induced neuronal death: cell metabolism meets neurodegeneration.

21 January 2018

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Iron dysregulation in movement disorders

21 January 2018

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Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson's disease and associated with cognitive impairment: a pilot study

21 January 2018

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Cholesterol involvement in the pathogenesis of neurodegenerative diseases.

21 January 2018

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Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease

21 January 2018

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Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

21 January 2018

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Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

21 January 2018

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Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.

21 January 2018

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Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

21 January 2018

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Dystonia and parkinsonism in GM1 type 3 gangliosidosis

21 January 2018

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Mice lacking major brain gangliosides develop parkinsonism

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Gangliosides' protection against lysosomal pathology of synucleinopathies

21 January 2018

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GM1 specifically interacts with alpha-synuclein and inhibits fibrillation

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

21 January 2018

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The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis

21 January 2018

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Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.

21 January 2018

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Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.

21 January 2018

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Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.

21 January 2018

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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Parkinsonism and Anderson Fabry's disease: a case report.

21 January 2018

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The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Impaired autophagic flux is critically involved in drug-induced dopaminergic neuronal death

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Wild type alpha-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Genetic causes of Parkinson's disease and their links to autophagy regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Chaperone-mediated autophagy markers in Parkinson disease brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Autophagy in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

A block of autophagy in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Cell-produced alpha-synuclein is secreted in a calcium-dependent manner by exosomes and impacts neuronal survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Calcium homeostasis, selective vulnerability and Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Lysosomal disorders: from storage to cellular damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Oxidative stress in Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Oxidative stress and the pathogenesis of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Production of reactive oxygen species in brain mitochondria: contribution by electron transport chain and non-electron transport chain sources

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Alpha-synuclein, lipids and Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Secondary accumulation of gangliosides in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

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/10.1007%2FS12035-014-8832-4

Analysis of the glucocerebrosidase gene in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

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/10.1007%2FS12035-014-8832-4

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Structural comparison of differently glycosylated forms of acid-β-glucosidase, the defective enzyme in Gaucher disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-014-8832-4

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela

21 January 2018

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12 December 2020

Glucocerebrosidase, a new player changing the old rules in Lewy body diseases

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12 December 2020

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

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12 December 2020

Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome

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12 December 2020

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

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12 December 2020

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

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12 December 2020

GM1 ganglioside in Parkinson's disease: Results of a five year open study

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12 December 2020

Anderson-Fabry disease with cerebrovascular complications in two Italian families

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12 December 2020

Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

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12 December 2020

Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese

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12 December 2020

Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders

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12 December 2020

Glucocerebrosidase mutations in a Serbian Parkinson's disease population

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12 December 2020

Genetic assessment of familial and early-onset Parkinson's disease in a Greek population

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12 December 2020

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12 December 2020

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

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12 December 2020

Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients

1 reference

12 December 2020

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

1 reference

12 December 2020

Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals

1 reference

12 December 2020

Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients

1 reference

12 December 2020

Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia

1 reference

12 December 2020

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease

1 reference

12 December 2020

[An autopsied case of Fabry's disease presenting with parkinsonism and cardiomegaly as a cardinal clinical manifestation]

1 reference

12 December 2020

Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease

1 reference

12 December 2020

Lysosomal storage diseases as disorders of autophagy

1 reference

12 December 2020

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

1 reference

12 December 2020

Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease

1 reference

12 December 2020

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.

1 reference

12 December 2020

The human glucocerebrosidase gene has two functional ATG initiator codons.

1 reference

12 December 2020

Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan

1 reference

12 December 2020

Parkinsonism in adult-onset GM2 gangliosidosis

1 reference

12 December 2020

Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene therapy for lysosomal storage disorders

1 reference

12 December 2020

10.1007/S12035-014-8832-4

Identifiers

DOI

1 reference

Dimensions Publication ID

31 August 2017

0 references

1 reference