Loading...
Publication
Study of cellular localization of Cystatin B in Unverricht-Lundborg disease
| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| 180.22 KB | TIFF |
Advisor(s)
Abstract(s)
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.
Description
Abstrat publiacdo em IX SPDM, 107.
Keywords
Doenças Genéticas Genética Humana Human Genetics CSTB Cystatin B Myoclonic epilepsy
Pedagogical Context
Citation
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP