Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)

Machado-Joseph disease (MJD) is a late-onset neurodegenerative disorder that presents clinical heterogeneity not completely explained by its causative mutation. MJD is caused by an expansion of a CAG tract at exon 10 of the ATXN3 gene (14q32.1), which encodes for ataxin-3. The main goal of this stud...

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Bibliographic Details
Main Author: Bettencourt, Conceição (author)
Other Authors: Santos, Cristina (author), Montiel, Rafael (author), Costa, Maria do Carmo (author), Cruz-Morales, Pablo (author), Santos, Liliana Ribeiro (author), Simões, Nelson (author), Kay, Teresa (author), Vasconcelos, João (author), Maciel, P. (author), Lima, Manuela (author)
Format: article
Language:eng
Published: 2010
Subjects:
Ataxin-3
Base sequence
Humans
Machado-Joseph disease
Models, Molecular
Molecular sequence data
Nerve tissue proteins
Nuclear proteins
Protein conformation
Repressor proteins
Alternative splicing
MJD
SCA3
Transcript variants
PolyQ disorders
Science & Technology
Online Access:http://hdl.handle.net/1822/67531
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/67531

Internet

http://hdl.handle.net/1822/67531

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