Common and uncommon pathogenic cascades in lysosomal storage diseases (Q33966917)

30 July 2017

1 reference

title

Common and uncommon pathogenic cascades in lysosomal storage diseases (English)

1 reference

30 July 2017

Frances M Platt

2

0 references

Anthony H. Futerman

object named as

Anthony H Futerman

series ordinal

3

0 references

Einat. B. Vitner

object named as

Einat B Vitner

series ordinal

1

0 references

language of work or name

English

0 references

publication date

29 April 2010

1 reference

Journal of Biological Chemistry

30 July 2017

1 reference

30 July 2017

285

1 reference

30 July 2017

20423-20427

1 reference

30 July 2017

27

1 reference

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Microglial physiology: unique stimuli, specialized responses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Innate and adaptive immune activation in the brain of MPS IIIB mouse model.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Role of autophagy in the pathogenesis of Pompe disease.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Immune response in leukodystrophies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Lipid trafficking defects increase Beclin-1 and activate autophagy in Niemann-Pick type C disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Farber disease: clinical presentation, pathogenesis and a new approach to treatment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Autophagy and lysosomes in Pompe disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Storage solutions: treating lysosomal disorders of the brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Gaucher disease: pathological mechanisms and modern management

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

The cell biology of lysosomal storage disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Secondary accumulation of gangliosides in lysosomal storage disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Glycosphingolipids in endocytic membrane transport

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

Neuronal ceroid lipofuscinoses

28 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

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/10.1074%2FJBC.R110.134452

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/10.1074%2FJBC.R110.134452

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Mitochondrial aberrations in mucolipidosis Type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Alterations in oxidative markers in the cerebellum and peripheral organs in MPS I mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Lysosomal disorders: from storage to cellular damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Association of autophagy with cholesterol-accumulated compartments in Niemann-Pick disease type C cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Broad screening test for sphingolipid-storage diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Blood oxidative stress markers in Gaucher disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Glucosylceramide modulates membrane traffic along the endocytic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

Correction: Uncoupling of Longevity and Telomere Length in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R110.134452

An exposed carboxyl group on sialic acid is essential for gangliosides to inhibit calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase: relevance to gangliosidoses.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898325

LAMP-2: a control step for phagosome and autophagosome maturation

29 October 2018

1 reference

12 December 2020

Lysosomal storage diseases as disorders of autophagy

1 reference

12 December 2020

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

1 reference

12 December 2020

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.R110.134452

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

PubMed ID

20430897