The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease (Q43907932)

27 November 2017

The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease (English)

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Epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

27 November 2017

1 reference

Santiago Rodriguez de Córdoba

GOA release 2020-03-11

author

9

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1 June 2020

Paola Bovolenta

8

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1 June 2020

6

Inmaculada Crespo

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1 June 2020

author name string

Javier Gayarre

1

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1 June 2020

Lara Duran-Trío

2

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1 June 2020

Olga Criado Garcia

3

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1 June 2020

Carmen Aguado

4

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1 June 2020

Lucia Juana-López

5

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1 June 2020

Erwin Knecht

7

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1 June 2020

language of work or name

English

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publication date

14 January 2014

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27 November 2017

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1 June 2020

volume

137

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1 June 2020

issue

Pt 3

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1 June 2020

page(s)

806-818

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

1 June 2020

cites work

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Changes of the proteasomal system during the aging process.

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Progressive myoclonus epilepsies: specific causes and diagnosis

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Low in vivo brain glucose consumption and high oxidative stress in accelerated aging.

21 January 2018

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

21 January 2018

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

21 January 2018

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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

21 January 2018

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Mutations in NHLRC1 cause progressive myoclonus epilepsy

21 January 2018

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

21 January 2018

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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

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

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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The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

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

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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Glycogen accumulation of the aging human brain.

21 January 2018

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Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.

21 January 2018

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

21 January 2018

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Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

21 January 2018

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Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress

21 January 2018

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

21 January 2018

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Cellular mechanisms of brain energy metabolism and their relevance to functional brain imaging.

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

21 January 2018

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

21 January 2018

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Autophagy defects in Lafora disease: cause or consequence?

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

1 reference

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Are there errors in glycogen biosynthesis and is laforin a repair enzyme?

21 January 2018

1 reference

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21 January 2018

1 reference

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Chronic treatment with the α2-adrenoceptor antagonist fluparoxan prevents age-related deficits in spatial working memory in APP×PS1 transgenic mice without altering β-amyloid plaque load or astrocytosis.

21 January 2018

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

21 January 2018

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Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease

21 January 2018

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Malin regulates Wnt signaling pathway through degradation of dishevelled2

21 January 2018

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

21 January 2018

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Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

21 January 2018

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Phosphate incorporation during glycogen synthesis and Lafora 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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Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.

21 January 2018

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PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease

21 January 2018

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Glycogen hyperphosphorylation underlies lafora body formation

21 January 2018

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Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease

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

21 January 2018

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

21 January 2018

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21 January 2018

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Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

21 January 2018

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

21 January 2018

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

21 January 2018

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Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells

21 January 2018

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Beitrag zur Histopathologie der myoklonischen Epilepsie

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT353

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24430976%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference