(Q43864961)

27 November 2017

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy. (English)

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27 November 2017

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16

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Santiago Rodriguez de Córdoba

27 November 2017

19

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27 November 2017

17

Paola Bovolenta

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27 November 2017

Olga Criado

1

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27 November 2017

Carmen Aguado

2

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27 November 2017

Javier Gayarre

3

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27 November 2017

Lara Duran-Trio

4

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27 November 2017

Ana M Garcia-Cabrero

5

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27 November 2017

Santiago Vernia

6

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27 November 2017

Beatriz San Millán

7

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27 November 2017

Miguel Heredia

8

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27 November 2017

Carlos Romá-Mateo

9

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27 November 2017

Silvana Mouron

10

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27 November 2017

Lucía Juana-López

11

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27 November 2017

Mercedes Domínguez

12

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27 November 2017

Carmen Navarro

13

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27 November 2017

Jose M Serratosa

14

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27 November 2017

Marina Sanchez

15

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27 November 2017

Erwin Knecht

18

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27 November 2017

20 December 2011

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27 November 2017

Human Molecular Genetics

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27 November 2017

21

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27 November 2017

7

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27 November 2017

1521-1533

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Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

27 November 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Progressive myoclonus epilepsies: specific causes and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Mutations in NHLRC1 cause progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Lafora disease due to EPM2B mutations: a clinical and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Advances in genetics of juvenile myoclonic epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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%2FDDR590

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Glycogen hyperphosphorylation underlies lafora body formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Aggresomes, inclusion bodies and protein aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Monitoring autophagic degradation of p62/SQSTM1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

21 January 2018

Insulin and the brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Control of energy homeostasis by insulin and leptin: targeting the arcuate nucleus and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Autophagy and the integrated stress response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Nibbling away at synaptic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Shaping cellular form and function by autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Role of proteasomes in the degradation of short-lived proteins in human fibroblasts under various growth conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Does bafilomycin A1 block the fusion of autophagosomes with lysosomes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

Beitrag zur Histopathologie der myoklonischen Epilepsie

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR590

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR590

1 reference

27 November 2017

1 reference