Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases (Q38156022)

29 August 2017

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases (English)

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Erratum: Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

29 August 2017

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corrigendum / erratum

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12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/PR.2014.94

Lara Wahlster

2

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Darius Ebrahimi-Fakhari

object named as

Darius Ebrahimi-Fakhari

series ordinal

1

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author name string

Georg F Hoffmann

series ordinal

3

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29 August 2017

Stefan Kölker

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4

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29 August 2017

language of work or name

English

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publication date

28 October 2013

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29 August 2017

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29 August 2017

75

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29 August 2017

1-2

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29 August 2017

217-226

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https://scigraph.springernature.com/pub.10.1038/pr.2013.185

29 August 2017

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The Beclin 1-VPS34 complex--at the crossroads of autophagy and beyond

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Guidelines for the use and interpretation of assays for monitoring autophagy

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The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes

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The pathways of mitophagy for quality control and clearance of mitochondria

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Alpha-synuclein's degradation in vivo: opening a new (cranial) window on the roles of degradation pathways in Parkinson disease

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Disruption of protein quality control in Parkinson's disease

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Distinct roles in vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of α-synuclein

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

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Identification of HE1 as the second gene of Niemann-Pick C disease

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Lysosomal lipid storage diseases

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Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin

21 January 2018

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

21 January 2018

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

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

21 January 2018

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

21 January 2018

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

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Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease

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Role of cathepsin D in U18666A-induced neuronal cell death: potential implication in Niemann-Pick type C disease pathogenesis

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Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

21 January 2018

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C. elegans screen identifies autophagy genes specific to multicellular organisms

21 January 2018

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Lysine 63-linked ubiquitination promotes the formation and autophagic clearance of protein inclusions associated with neurodegenerative diseases

21 January 2018

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Atg5 and Ambra1 differentially modulate neurogenesis in neural stem cells

21 January 2018

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The role of autophagy during the early neonatal starvation period

21 January 2018

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https://api.crossref.org/works/10.1038%2FPR.2013.185

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

21 January 2018

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

21 January 2018

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Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration

21 January 2018

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Biochemical studies on tissues from a patient with lafora disease

21 January 2018

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Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

21 January 2018

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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

21 January 2018

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Mutations in NHLRC1 cause progressive myoclonus epilepsy

21 January 2018

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Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii.

21 January 2018

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Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

21 January 2018

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Early-onset Lafora body disease

21 January 2018

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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

21 January 2018

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Phosphate incorporation during glycogen synthesis and Lafora disease

21 January 2018

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Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

21 January 2018

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Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin

21 January 2018

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Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment

21 January 2018

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Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

21 January 2018

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The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system

21 January 2018

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https://api.crossref.org/works/10.1038%2FPR.2013.185

Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FPR.2013.185

Malin and laforin are essential components of a protein complex that protects cells from thermal stress

21 January 2018

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https://api.crossref.org/works/10.1038%2FPR.2013.185

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

21 January 2018

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https://api.crossref.org/works/10.1038%2FPR.2013.185

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.

21 January 2018

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GFAP mutations, age at onset, and clinical subtypes in Alexander disease

21 January 2018

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Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FPR.2013.185

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Dysfunctions of neuronal and glial intermediate filaments in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Oligomers of mutant glial fibrillary acidic protein (GFAP) Inhibit the proteasome system in alexander disease astrocytes, and the small heat shock protein alphaB-crystallin reverses the inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Glial fibrillary acidic protein filaments can tolerate the incorporation of assembly-compromised GFAP-delta, but with consequences for filament organization and alphaB-crystallin association

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Suppression of GFAP toxicity by alphaB-crystallin in mouse models of Alexander disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Linking of autophagy to ubiquitin-proteasome system is important for the regulation of endoplasmic reticulum stress and cell viability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Autophagy modulation as a potential therapeutic target for diverse diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Control of autophagy as a therapy for neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

A gene network regulating lysosomal biogenesis and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Vici syndrome associated with unilateral lung hypoplasia and myopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Ambra1 regulates autophagy and development of the nervous system

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2013.185

31 March 2020

Identifiers

DOI

10.1038/PR.2013.185

1 reference

Dimensions Publication ID

29 August 2017

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