Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy.

Dubey, Deepti; Ganesh, Subramaniam

Dubey, Deepti; Ganesh, Subramaniam.

Affiliation

Dubey D; Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India.

Hum Mol Genet ; 17(19): 3010-20, 2008 Oct 01.

Article in En | MEDLINE | ID: mdl-18617530

Subject(s)

Alternative Splicing; Lafora Disease/metabolism; Protein Tyrosine Phosphatases, Non-Receptor/genetics; Protein Tyrosine Phosphatases, Non-Receptor/metabolism; Animals; COS Cells; Carrier Proteins/metabolism; Chlorocebus aethiops; Glycogen/metabolism; Humans; Lafora Disease/genetics; Mutation; Protein Binding; Protein Isoforms/analysis; Protein Isoforms/genetics; Protein Isoforms/metabolism; Protein Transport; Protein Tyrosine Phosphatases, Non-Receptor/analysis; Ubiquitin-Protein Ligases

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alternative Splicing / Lafora Disease / Protein Tyrosine Phosphatases, Non-Receptor Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2008 Document type: Article Affiliation country: India Country of publication: United kingdom

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