title: A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
abstract: 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.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom.
authors.forename: L
authors.initials: L
authors.lastname: Rampoldi
authors.forename: C
authors.initials: C
authors.lastname: Dobson-Stone
authors.forename: J P
authors.initials: JP
authors.lastname: Rubio
authors.forename: A
authors.initials: A
authors.lastname: Danek
authors.forename: R M
authors.initials: RM
authors.lastname: Chalmers
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: C
authors.initials: C
authors.lastname: Verellen
authors.forename: X
authors.initials: X
authors.lastname: Ferrer
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: R
authors.initials: R
authors.lastname: Brown
authors.forename: J
authors.initials: J
authors.lastname: Vance
authors.forename: M
authors.initials: M
authors.lastname: Pericak-Vance
authors.forename: G
authors.initials: G
authors.lastname: Rudolf
authors.forename: S
authors.initials: S
authors.lastname: Carrè
authors.forename: E
authors.initials: E
authors.lastname: Alonso
authors.forename: M
authors.initials: M
authors.lastname: Manfredi
authors.forename: A H
authors.initials: AH
authors.lastname: Németh
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics; D002460:Cell Line; D002819:Chorea / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D004912:Erythrocytes / Q000502:physiology; D005091:Exons; D005656:Fungal Proteins / Q000235:genetics; D005786:Gene Expression Regulation; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D010375:Pedigree; D021381:Protein Transport; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic; D033921:Vesicular Transport Proteins
chemical_list: D005656:Fungal Proteins; D011506:Proteins; D029701:Saccharomyces cerevisiae Proteins; C110276:VPS13 protein, S cerevisiae; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins