AMYLOIDOGENIC AND NONAMYLOIDOGENIC TRANSTHYRETIN ASN-90 VARIANTS

• Tipo: Artigo em Revista Científica Internacional
• Data: 1992

Autores

ALVES, IL (Autor) Outra; ALMEIDA, MR (Autor) ICBAS; SKARE, J (Autor) Outra; SKINNER, M (Autor) Outra; KUROSE, K (Autor) Outra; SAKAKI, Y (Autor) Outra; COSTA, PP (Autor) Outra; SARAIVA, MJM (Autor) ICBAS

Revista

Título: Clinical Genetics

Vol. 42

Páginas: 27-30

ISSN: 0009-9163

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 8 Citações

Scopus - 8 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências da terra e ciências do ambiente

Outras Informações

ID Authenticus: P-001-PDB

Abstract (EN): Recently, a new transthyretin (TTR) variant was described in the normal Portuguese and German populations. The same substitution was found associated with familial amyloidotic polyneuropathy (FAP) in an American family of Italian origin. Comparative isoelectric focusing studies showed a difference in the mobility pattern between the non-pathogenic and pathogenic variants. However, comparative DNA sequencing between them did not reveal any additional mutation. Comparative isoelectric focusing between the variants and TTR Asn 90 produced by recombinant techniques indicated that the non-pathogenic variant has the electrophoretic behaviour expected for the mutation. We suggest that an as yet unknown post-translational modification may have occurred in the FAP-associated Asn 90 variant, turning it into an amyloidogenic molecule.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4