Characterization of a rare Unverricht-Lundborg disease mutation

Duarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, Olga

http://hdl.handle.net/10400.18/3415

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Resumo(s)

Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66GNA; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of thismutation at the population level and at the cellular level. The cellular fractionation studies here carried out showed mislocalization of the protein and add to the knowledge on this disease.

Descrição

AJD received a small SPDM/Genzyme grant award

Palavras-chave

Doenças Genéticas Rare Diseases Lysosomal Disorders Unverricht-Lundborg Disease Epilepsy Molecular and Cellular Biology

URI

http://hdl.handle.net/10400.18/3415

Citação

Mol Genet Metab Rep. 2015; 4: 68-71. doi:10.1016/j.ymgmr.2015.07.005

Editora

Elsevier

DOI

10.1016/j.ymgmr.2015.07.005

Coleções

DGH - Artigos em revistas internacionais

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