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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 18 Nov 2014.

Epilepsy, progressive myoclonus type 2A, Lafora disease

EPM2A, malin, EPM2B, Laforin, NHLRC1
This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Ubiquitin, AGE, HAD, CAN, ACID
Papers on EPM2A
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
New
Impact
Lehesjoki et al., Helsinki, Finland. In Nat Genet, 17 Dec 2014
Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1).
Late onset Lafora disease and novel EPM2A mutations: Breaking paradigms.
New
Martínez-Juárez et al., Mexico. In Epilepsy Res, 30 Nov 2014
LD is caused by homozygous mutations in EPM2A or EPM2B genes.
Neuronal glycogen synthesis contributes to physiological aging.
New
Guinovart et al., Barcelona, Spain. In Aging Cell, 31 Oct 2014
In humans, loss-of-function mutations in laforin and malin, proteins involved in suppressing glycogen synthesis, induce the presence of high numbers of insoluble polyglucosan bodies in neuronal cells.
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings.
New
Aguglia et al., Catanzaro, Italy. In Epilepsia, 30 Oct 2014
NHLRC1 mutations were detected in 18 patients; EPM2A mutations were identified in 5. Patients who maintained >10 years gait autonomy were labeled as "mild" and were compared with the remaining LD patients with a typical course.
Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation.
New
Kumandas et al., İzmir, Turkey. In J Child Neurol, Aug 2014
Responsible mutations of Lafora disease involves either the EPM2A or NHLRC1 (EPM2B) gene.
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole.
New
Sánchez et al., Madrid, Spain. In Front Neurosci, Dec 2013
Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin.
Unclassified cardiomyopathies in neuromuscular disorders.
Review
New
Stöllberger et al., Vienna, Austria. In Wien Med Wochenschr, Nov 2013
Takotsubo syndrome has been described in association with myasthenia gravis, amyotrophic lateral sclerosis, Guillain-Barre syndrome, rhabdomyolysis, mitochondrial disorder, hypokalemia-related myopathy, syndrome malin, hereditary sensorimotor neuropathy, Beals syndrome, polymyalgia rheumatica, and unclassified myopathy.
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.
New
Impact
Minassian et al., Potsdam, Germany. In Cell Metab, Jun 2013
Laforin or malin deficiency causes Lafora disease, characterized by altered glycogen metabolism and teenage-onset neurodegeneration with intractable and invariably fatal epilepsy.
Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene.
Review
New
Romac et al., Belgrade, Serbia. In J Neurol Sci, Mar 2013
It is due to either EPM2A or NHLRC1 mutations.
Progressive myoclonus epilepsy.
Review
Minassian et al., Toronto, Canada. In Handb Clin Neurol, 2012
It is caused by defects of two genes of yet unknown function, one encoding a glycogen phosphatase (laforin) and the other an ubiquitin E3 ligase (malin).
Deciphering the role of malin in the lafora progressive myoclonus epilepsy.
Review
Gentry et al., Valencia, Spain. In Iubmb Life, 2012
LD is caused by mutations in the gene encoding the E3 ubiquitin ligase malin or the glucan phosphatase laforin.
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
GeneRIF
Minassian et al., Toronto, Canada. In J Biol Chem, 2012
malin functions to regulate laforin and that malin deficiency at least in part causes LB and LD through increased laforin binding to glycogen.
Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.
GeneRIF
Delgado-Escueta et al., Los Angeles, United States. In Exp Neurol, 2012
A detailed microscopic analysis of the neuropil of a Laforin-deficient (epm2a-/-) mouse model shows neurofibrillary degeneration and senile-like plaques prominent in the hippocampus and ventral pons.
Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
GeneRIF
Liu et al., Ann Arbor, United States. In Febs J, 2012
Results show that a functional laforin-malin complex plays a critical role in disrupting Lafora bodies and relieving endoplasmic reticulum stres.
Laforin and malin deletions in mice produce similar neurologic impairments.
GeneRIF
Sánchez et al., Madrid, Spain. In J Neuropathol Exp Neurol, 2012
Motor coordination, activity impairment, and memory deficits progressively increase with age in Epm2a deficient mice.
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration.
Review
Navarro et al., Vigo, Spain. In Recent Pat Endocr Metab Immune Drug Discov, 2012
The EPM2A gene encodes laforin, a dual-specificity protein phosphatase, and the NHLRC1 gene encodes malin, an E3-ubiquitin ligase.
Malin regulates Wnt signaling pathway through degradation of dishevelled2.
GeneRIF
Jana et al., Gurgaon, India. In J Biol Chem, 2012
Our results indicate that malin regulates Wnt signaling pathway through the degradation of dishevelled2 and suggest possible deregulation of Wnt signaling in Lafora disease.
Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling.
Impact
GeneRIF
Zheng et al., Columbus, United States. In Cancer Cell, 2006
Inactivation of Epm2a resulted in increased Wnt signaling and tumorigenesis
Expanded repeat in canine epilepsy.
Impact
Minassian et al., Toronto, Canada. In Science, 2005
A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy.
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Impact
GeneRIF
Scherer et al., Toronto, Canada. In Nat Genet, 2003
Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy
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