EPM2A 抗体
(Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin) (EPM2A))
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].
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Latest Publications for our EPM2A 抗体
: "Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice." in: The Journal of biological chemistry, (2015) (PubMed).: "The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions." in: Bioscience reports, Vol. 34, Issue 4, (2014) (PubMed).
: "A bioassay for Lafora disease and laforin glucan phosphatase activity." in: Clinical biochemistry, Vol. 46, Issue 18, pp. 1869-76, (2013) (PubMed).
: "Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity." in: Human molecular genetics, Vol. 21, Issue 7, pp. 1604-10, (2012) (PubMed).
: "Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease." in: The Journal of biological chemistry, Vol. 287, Issue 30, pp. 25650-9, (2012) (PubMed).
: "Early-onset Lafora body disease." in: Brain : a journal of neurology, Vol. 135, Issue Pt 9, pp. 2684-98, (2012) (PubMed).
: "Glycogen hyperphosphorylation underlies lafora body formation." in: Annals of neurology, Vol. 68, Issue 6, pp. 925-33, (2011) (PubMed).
: "Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Issue 49, pp. 19262-6, (2007) (PubMed).
: "Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment." in: Human molecular genetics, Vol. 16, Issue 7, pp. 753-62, (2007) (PubMed).
: "Relationship between glycogen accumulation and the laforin dual specificity phosphatase." in: Biochemical and biophysical research communications, Vol. 350, Issue 3, pp. 588-92, (2006) (PubMed).
Aliases for EPM2A 抗体
EPM2A, laforin glucan phosphatase (EPM2A) 抗体epilepsy, progressive myoclonic epilepsy, type 2 gene alpha (Epm2a) 抗体
EPM2A, laforin glucan phosphatase (Epm2a) 抗体
EPM2 抗体
laforin 抗体
MELF 抗体
Tg(TcraK,TcrbK)TG-BFlv 抗体
TG-B 抗体
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