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

Authors
Rampoldi, L Dobson-Stone, C Rubio, JP Danek, A Chalmers, RM Wood, NW Verellen, C Ferrer, X Malandrini, A Fabrizi, GM Brown, R Vance, J Pericak-Vance, M Rudolf, G Carre, S Alonso, E Manfredi, M Nemeth, AH Monaco, AP
Citation
L. Rampoldi et al., A conserved sorting-associated protein is mutant in chorea-acanthocytosis, NAT GENET, 28(2), 2001, pp. 119-120
Citations number
12
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
28
Issue
2
Year of publication
2001
Pages
119 - 120
Database
ISI
SICI code
1061-4036(200106)28:2<119:ACSPIM>2.0.ZU;2-2
Abstract
Chorea-acanthocytosis (CHAC. MIM 200150) is an autosomal recessive neurodeg enerative disorder characterized by the gradual onset of hyperkinetic movem ents and abnormal erythrocyte morphology(1,2) (acanthocytosis). Neurologica l findings closely resemble those observed in Huntington disease(3-8). We i dentified a gene in the CHAC critical region(9) and found 16 different muta tions in individuals with chorea-acanthocytosis. CHAC encodes an evolutiona rily conserved protein that is probably involved in protein sorting.