Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/1579
Título: Study of cellular localization of Cystatin B in Unverricht-Lundborg disease
Autor: Duarte, Ana Joana
Ribeiro, Diogo
Chaves, Joao
Amaral, Olga
Palavras-chave: Doenças Genéticas
Genética Humana
Human Genetics
Cystatin B
Myoclonic epilepsy
Data: 21-Mar-2013
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: Epilepsy is a common finding in metabolic diseases and in lysosomal diseases in particular.Unverricht-Lundborg disease (ULD; MIM #601145) is a Progressive Myoclonic Epilepsy caused by mutations in the Cystatin B gene (CSTB) and leading to the impaired action of this intracellular proteinase inhibitor which reversibly binds cathepsins. A unique patient homozygous for mutation p.Q22Q, r.[66g>a,65_66ins66+364pb], which affects normal splicing and gives rise to two cDNA transcripts (normal and abnormal), was recently described. CSTB is ubiquitously expressed, the 98 aminoacid peptide can have nuclear, cytoplasmatic and lysosomal localization. The cellular location varies among different types of cells.
Descrição: Abstrat publiacdo em IX SPDM, 107.
Peer review: yes
URI: http://hdl.handle.net/10400.18/1579
Aparece nas colecções:DGH - Posters/abstracts em congressos nacionais

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