(Q24311181)

negative regulation of TOR signaling

1 reference

Autophagy related 5

1 reference

Tuberin

1 reference

Epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

1 reference

1 reference

Patricia Boya

6

0 references

Viktor Korolchuk

Viktor I Korolchuk

3

0 references

Pascual Sanz

Pascual Sanz

Santiago Rodriguez de Córdoba

7

0 references

Santiago Rodríguez de Córdoba

8

0 references

Santiago Vernia

Santiago Vernia

5

0 references

Sovan Sarkar

Sovan Sarkar

2

0 references

David C. Rubinsztein

10

David C Rubinsztein

0 references

author name string

Carmen Aguado

1

0 references

Olga Criado

4

0 references

Erwin Knecht

Creative Commons Attribution-NonCommercial 2.5 Generic

9

0 references

language of work or name

English

0 references

publication date

15 July 2010

0 references

published in

Human Molecular Genetics

0 references

volume

19

0 references

issue

14

0 references

page(s)

2867-76

0 references

copyright license

1 reference

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893813

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

The role of autophagy during the early neonatal starvation period

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Autophagy, a guardian against neurodegeneration

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Autophagy in skeletal muscle: implications for Pompe disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Mammalian macroautophagy at a glance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Intracellular protein degradation in mammalian cells: recent developments

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Huntington's disease: degradation of mutant huntingtin by autophagy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Advances in lafora progressive myoclonus epilepsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Signalling and autophagy regulation in health, aging and disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Lysosomal turnover, but not a cellular level, of endogenous LC3 is a marker for autophagy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Glycogen autophagy in glucose homeostasis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Regulation and role of autophagy in mammalian cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Mutations in NHLRC1 cause progressive myoclonus epilepsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

A molecular investigation of true dominance in Huntington's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Biochemical studies on tissues from a patient with lafora disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Changes in the proteolytic activities of proteasomes and lysosomes in human fibroblasts produced by serum withdrawal, amino-acid deprivation and confluent conditions

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Progressive familial myoclonic epilepsy with Lafora bodies. Electron microscopic and histochemical study of a cerebral biopsy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Beitrag zur Histopathologie der myoklonischen Epilepsie

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

21 January 2018

How shall I eat thee?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

Rapamycin pre-treatment protects against apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

Autophagic clearance of aggregate-prone proteins associated with neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

Does bafilomycin A1 block the fusion of autophagosomes with lysosomes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

In search of an "autophagomometer".

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ190

p62/SQSTM1: a missing link between protein aggregates and the autophagy machinery

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Glycogen autophagy in the liver and heart of newborn rats. The effects of glucagon, adrenalin or rapamycin

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893813

Regulation of various proteolytic pathways by insulin and amino acids in human fibroblasts

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20453062