Dysregulation of autophagy as a common mechanism in lysosomal storage diseases. (Q47321665)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

review article

2 references

2 November 2020

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

lysosomal storage disease

7 April 2020

main subject

3 references

24 March 2019

22 April 2019

2 November 2020

1 reference

2 November 2020

Tatiana R. Rosenstock

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Richard I. Tuxworth

6

1 reference

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7 April 2020

Timothy Barrett

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Sovan Sarkar

7

1 reference

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7 April 2020

author name string

Elena Seranova

1

1 reference

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7 April 2020

Kyle J Connolly

2

1 reference

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7 April 2020

Malgorzata Zatyka

3

1 reference

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7 April 2020

publication date

12 December 2017

4 references

24 March 2019

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

2 November 2020

Essays in Biochemistry

4 references

24 March 2019

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

2 November 2020

61

1 reference

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7 April 2020

page(s)

733-749

1 reference

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7 April 2020

issue

6

1 reference

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Creative Commons Attribution

7 April 2020

copyright license

3 references

24 March 2019

22 April 2019

2 November 2020

0 references

on focus list of Wikimedia project

ScienceSource

0 references

cites work

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A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin

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Transcription factor EB: from master coordinator of lysosomal pathways to candidate therapeutic target in degenerative storage diseases

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10 July 2018

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The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective

10 July 2018

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Trehalose inhibits solute carrier 2A (SLC2A) proteins to induce autophagy and prevent hepatic steatosis

10 July 2018

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10 July 2018

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Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

10 July 2018

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Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics

10 July 2018

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Beclin orthologs: integrative hubs of cell signaling, membrane trafficking, and physiology

10 July 2018

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10 July 2018

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10 July 2018

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Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function

10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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X-linked myopathy with excessive autophagy: a failure of self-eating

10 July 2018

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Lysosomal storage diseases: from pathophysiology to therapy.

10 July 2018

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PLEKHM1 regulates autophagosome-lysosome fusion through HOPS complex and LC3/GABARAP proteins

10 July 2018

1 reference

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Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons

10 July 2018

1 reference

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Pompe disease: literature review and case series

10 July 2018

1 reference

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Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells.

10 July 2018

1 reference

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Autophagy and human disease: emerging themes

10 July 2018

1 reference

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Sphingolipid lysosomal storage disorders

10 July 2018

1 reference

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Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease.

10 July 2018

1 reference

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Cargo recognition and trafficking in selective autophagy

10 July 2018

1 reference

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CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events

10 July 2018

1 reference

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Dynamic regulation of macroautophagy by distinctive ubiquitin-like proteins

10 July 2018

1 reference

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To be or not to be? How selective autophagy and cell death govern cell fate

10 July 2018

1 reference

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Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

10 July 2018

1 reference

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Autophagy and human diseases

10 July 2018

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Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease

10 July 2018

1 reference

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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

10 July 2018

1 reference

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Role of autophagy in glycogen breakdown and its relevance to chloroquine myopathy

10 July 2018

1 reference

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Gaucher disease and its treatment options

10 July 2018

1 reference

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Autophagosome maturation and lysosomal fusion

10 July 2018

1 reference

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Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration

10 July 2018

1 reference

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Regulation of autophagy by mTOR-dependent and mTOR-independent pathways: autophagy dysfunction in neurodegenerative diseases and therapeutic application of autophagy enhancers.

10 July 2018

1 reference

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Chemical screening platforms for autophagy drug discovery to identify therapeutic candidates for Huntington's disease and other neurodegenerative disorders.

10 July 2018

1 reference

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New insights in the field of muscle glycogenoses

10 July 2018

1 reference

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Lysosomal storage diseases--the horizon expands

10 July 2018

1 reference

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The role of autophagy in neurodegenerative disease

10 July 2018

1 reference

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Emerging regulation and functions of autophagy

10 July 2018

1 reference

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10 July 2018

NCL disease mechanisms

1 reference

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

10 July 2018

1 reference

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TFEB-mediated autophagy rescues midbrain dopamine neurons from α-synuclein toxicity

10 July 2018

1 reference

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Signals from the lysosome: a control centre for cellular clearance and energy metabolism

10 July 2018

1 reference

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Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Activation of lysosomal function in the course of autophagy via mTORC1 suppression and autophagosome-lysosome fusion.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

10 July 2018

1 reference

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Adverse events associated with mTOR inhibitors

10 July 2018

1 reference

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The hairpin-type tail-anchored SNARE syntaxin 17 targets to autophagosomes for fusion with endosomes/lysosomes

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

10 July 2018

1 reference

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Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy modulation as a potential therapeutic target for diverse diseases

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease

10 July 2018

1 reference

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The role of saposin C in Gaucher disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy in lysosomal storage disorders

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Lipophagy: connecting autophagy and lipid metabolism

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy, mitochondria and oxidative stress: cross-talk and redox signalling

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy in lysosomal myopathies

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

TFEB links autophagy to lysosomal biogenesis

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

10 July 2018

Mechanisms of mitophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Lithium rescues the impaired autophagy process in CbCln3(Δex7/8/Δex7/8) cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Protein misfolding disorders and macroautophagy

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy for tissue homeostasis and neuroprotection

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Regulation of mammalian autophagy in physiology and pathophysiology.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Macroautophagy is not directly involved in the metabolism of amyloid precursor protein

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Niemann-Pick disease type C

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy mediates pharmacological lifespan extension by spermidine and resveratrol

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Aberrant Ca2+ handling in lysosomal storage disorders

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

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

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Regulation mechanisms and signaling pathways of autophagy

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

A gene network regulating lysosomal biogenesis and function

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy regulates lipid metabolism

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

An ATP-competitive mammalian target of rapamycin inhibitor reveals rapamycin-resistant functions of mTORC1

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

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

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The chaperone-mediated autophagy receptor organizes in dynamic protein complexes at the lysosomal membrane

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

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

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy fights disease through cellular self-digestion

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy in the Pathogenesis of Disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Lysosomal trafficking functions of mucolipin-1 in murine macrophages

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy: process and function

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

A block of autophagy in lysosomal storage disorders

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Lysosomes: fusion and function

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

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

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Small molecules enhance autophagy and reduce toxicity in Huntington's disease models.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

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

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The roles of intracellular protein-degradation pathways in neurodegeneration

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Loss of autophagy in the central nervous system causes neurodegeneration in mice

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Lithium induces autophagy by inhibiting inositol monophosphatase

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The cell biology of lysosomal storage disorders

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Biosynthesis and degradation of mammalian glycosphingolipids

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Autophagic vacuolar myopathies

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Role of LAMP-2 in lysosome biogenesis and autophagy

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

A protein conjugation system essential for autophagy

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Impaired mitophagy facilitates mitochondrial damage in Danon disease

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Types A and B Niemann-Pick disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The ATG conjugation systems are important for degradation of the inner autophagosomal membrane.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

The autophagic defect in Niemann-Pick disease type C neurons differs from somatic cells and reduces neuronal viability.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Chaperone-mediated autophagy is defective in mucolipidosis type IV.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Novel targets for Huntington's disease in an mTOR-independent autophagy pathway

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Cathepsin D deficiency induces persistent neurodegeneration in the absence of Bax-dependent apoptosis.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Neuropathology provides clues to the pathophysiology of Gaucher disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Identification of the gene causing mucolipidosis type IV.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1042%2FEBC20170055

Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5869865

Phosphorylation of ribosomal protein S6 is inhibitory for autophagy in isolated rat hepatocytes

2 November 2018

1 reference

12 December 2020

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

1 reference

12 December 2020

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

1 reference

12 December 2020

Recommendations for treating patients with Gaucher disease with emerging enzyme products

1 reference

12 December 2020

1 reference

12 December 2020

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuronal ceroid lipofuscinoses

1 reference

12 December 2020

Identifiers

DOI

10.1042/EBC20170055

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29233882%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference