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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
TLDR
A novel gene, EPM2A, is identified at chromosome 6q24 that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP) that is predicted to cause deleterious effects in the putative protein product, named laforin, resulting in Lafora's disease. Expand
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
TLDR
There continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes, so it is important to update guidelines for monitoring autophagic activity in different organisms. Expand
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
TLDR
A previously unknown MeCP2 isoform is described and mutations unique to this isoform and the absence of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome. Expand
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
TLDR
Six different mutations are identified in the MFSD8 gene (previously denoted "MGC33302"), which encodes a novel polytopic 518-amino acid membrane protein that belongs to the major facilitator superfamily of transporter proteins that is expressed ubiquitously, with several alternatively spliced variants. Expand
Mutations in NHLRC1 cause progressive myoclonus epilepsy
TLDR
A second gene associated with Lafora progressive myoclonus epilepsy is identified, NHLRC1 (also called EPM2B), which encodes malin, a putative E3 ubiquitin ligase with a RING finger domain and six NHL motifs, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy. Expand
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
TLDR
It is proposed that excessive phosphorylation of glycogen leads to aberrant branching and Lafora body formation and this study provides a molecular link between an observed biochemical property of laforin and the phenotype of a mouse model of La fora disease. Expand
Brain dopamine-serotonin vesicular transport disease and its treatment.
TLDR
Evidence supporting its causation by a mutation in SLC18A2 (which encodes vesicular monoamine transporter 2 [VMAT2]). Expand
Mice Lacking the β3 Subunit of the GABAA Receptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome
TLDR
The loss of the single gene, gabrb3, in these mice is sufficient to cause phenotypic traits that have marked similarities to the clinical features of AS, indicating that impaired expression of the GABRB3 gene in humans probably contributes to the overall phenotype of Angelman syndrome. Expand
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
TLDR
Using immunogold electron microscopy, it is shown that laforin is found in close proximity to the ER surrounding the polyglucosan accumulations, and establishes for the first time a direct association between the disease-defining storage product and disease protein. Expand
Lafora's disease: towards a clinical, pathologic, and molecular synthesis.
TLDR
Pathology reveals pathognomonic polyglucosan inclusions that are not seen in any other progressive myoclonus epilepsy, and work toward establishing the connection between laforin and Lafora's disease polyglUCosans is underway, as are attempts to replace it into the central nervous system of patients with LaforA's disease. Expand
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