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A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

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Rampoldi, L Dobson-Stone, C Rubio, J P Danek, A Chalmers, R M Dumoulin, Christine [UCL] Monaco, A P

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2001
Language Anglais
Journal information "Nature genetics" - Vol. 28, no.2, p. 119-120 (2001)
Peer reviewed yes
issn 1061-4036
Publication status Publié
Affiliations UCL - MD/MINT - Département de médecine interne
UCL - (SLuc) Centre de génétique médicale UCL
MESH Subject Alternative Splicing ; Animals ; Caenorhabditis elegans ; Cell Line ; Chorea ; Chromosomes, Human, Pair 6 ; Erythrocytes ; Exons ; Fungal Proteins ; Gene Expression Regulation ; Haplotypes ; Humans ; Mutation ; Pedigree ; Protein Transport ; Proteins ; Saccharomyces cerevisiae Proteins ; Sequence Homology, Amino Acid ; Transcription, Genetic ; Vesicular Transport Proteins
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Bibliographic reference Rampoldi, L ; Dobson-Stone, C ; Rubio, J P ; Danek, A ; Chalmers, R M ; et. al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis.. In: Nature genetics, Vol. 28, no.2, p. 119-120 (2001)
Permanent URL http://hdl.handle.net/2078.1/232411