Article

Gene replacement therapy for Lafora disease in the <i> Epm2a <sup>-/-</sup> </i> mouse model

2023-12-14

Abstract excerpt

Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in adolescence. Common symptoms include seizures, dementia, and a progressive neurological decline leading to death within 5-15 years from onset. The disease results from mutations transmitted with autosomal recessive inheritance in the EPM2A gene, encoding laforin, a dual-specificity phosphatase, or the EPM2B gen...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3c729cc0-a999-5115-8365-0762269cb6c1
DOI: 10.1101/2023.12.14.571636

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Gene replacement therapy for Lafora disease in the <i> Epm2a <sup>-/-</sup> </i> mouse modelDOI 10.1101/2023.12.14.571636Read

Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.Semantic proximity Read

Lafora disease: from genotype to phenotype.Semantic proximity Read

The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease.Semantic proximity Read

Lafora diseaseSemantic proximity Read

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase LaforinSemantic proximity Read

Deciphering the role of malin in the lafora progressive myoclonus epilepsySemantic proximity Read

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

Targeting pathogenic Lafora bodies in Lafora disease using an antibody-enzyme fusionSemantic proximity Read

Laforin and Malin Deletions in Mice Produce Similar Neurologic ImpairmentsSemantic proximity Read

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.Semantic proximity Read

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.Semantic proximity Read

Laforin, the most common protein mutated in Lafora disease, regulates autophagySemantic proximity Read