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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.


The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: MLH1, EPM2A, HAD, IgE, oncostatin M
Papers on EPM2AIP1
Multiplex mapping of chromatin accessibility and DNA methylation within targeted single molecules identifies epigenetic heterogeneity in neural stem cells and glioblastoma.
Kladde et al., Gainesville, United States. In Genome Res, 2014
At the divergent MLH1/EPM2AIP1 promoter, a locus with three well-defined, nucleosome-depleted regions (NDRs), a fraction of promoter copies with inaccessible chromatin was detected and enriched upon selection of temozolomide-tolerant GBM cells.
MLH1 methylation screening is effective in identifying epimutation carriers.
Capellá et al., Barcelona, Spain. In Eur J Hum Genet, 2012
In one of the cases, the identified MLH1 constitutional methylation was monoallelic and results in MLH1 and EPM2AIP1 allele-specific transcriptional silencing.
A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p.
Hedera et al., Nashville, United States. In Epilepsia, 2011
Sequencing of several candidate genes, including dynein light chain-A, golgin subfamily a4, leucine rich repeat (in FLII) interacting gene, serine/threonine-protein kinase DCAMKL3 (doublecortin- like and CAM kinase-like 3), laforin (EPM2A) interacting protein 1 (EPM2AIP1, programmed cell death 6 interacting protein, and CLIP-associating protein 2 (cytoplasmic linker-associated protein 2) (hOrbit2) genes did not identify the disease-causing mutations.
Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.
Bapat et al., Toronto, Canada. In Oncol Rep, 2011
The -93G>A polymorphism modifies the efficiency of MLH1/EPM2AIP1 transcription.
Altered DNA copy number in patients with different seizure disorder type: by array-CGH.
Rha et al., Seoul, South Korea. In Brain Dev, 2007
To validate the array-CGH results, real time PCR was performed for several genes (EPM2AIP1, OSM, AFP, CYP19A1, SLC6A13, and COL6A2).
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.
Ward et al., Sydney, Australia. In Gastroenterology, 2005
METHODS: A cohort of 160 probands from HNPCC families who did not harbor germline sequence mutations in the mismatch repair genes were screened for methylation of the MLH1 and EPM2AIP1 promoters by combined bisulfite and restriction analyses.
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
Minassian et al., Toronto, Canada. In Hum Mol Genet, 2004
In addition, we show that the laforin interacting protein, EPM2AIP1, also localizes on the polyglucosan masses, and we confirm laforin's intense binding to LBs in human LD biopsy material.
Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.
Scherer et al., Toronto, Canada. In Genomics, 2003
The EPM2AIP1 gene was identified and characterized in a screen for laforin-interacting proteins with a human brain cDNA library; the specificity of the interaction was confirmed; subcellular colocalization of laforin and EPM2AIP1 protein was demonstrated
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