Browsing by Author "Chaves, Joao"
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- Study of cellular localization of Cystatin B in Unverricht-Lundborg diseasePublication . Duarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, OlgaEpilepsy 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.
- Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B genePublication . Pinto, Eugenia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Lima, JL; Chaves, Joao; Amaral, OlgaUnverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.
- Unverricht–lundborg disease: report of a new mutationPublication . Freitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease.