A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Publication
, Journal Article
Rampoldi, L; Dobson-Stone, C; Rubio, JP; Danek, A; Chalmers, RM; Wood, NW; Verellen, C; Ferrer, X; Malandrini, A; Fabrizi, GM; Brown, R ...
Published in: Nat Genet
June 2001
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.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
Nat Genet
DOI
ISSN
1061-4036
Publication Date
June 2001
Volume
28
Issue
2
Start / End Page
119 / 120
Location
United States
Related Subject Headings
- Vesicular Transport Proteins
- Transcription, Genetic
- Sequence Homology, Amino Acid
- Saccharomyces cerevisiae Proteins
- Proteins
- Protein Transport
- Pedigree
- Mutation
- Humans
- Haplotypes
Citation
APA
Chicago
ICMJE
MLA
NLM
Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., … Monaco, A. P. (2001). A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet, 28(2), 119–120. https://doi.org/10.1038/88821
Rampoldi, L., C. Dobson-Stone, J. P. Rubio, A. Danek, R. M. Chalmers, N. W. Wood, C. Verellen, et al. “A conserved sorting-associated protein is mutant in chorea-acanthocytosis.” Nat Genet 28, no. 2 (June 2001): 119–20. https://doi.org/10.1038/88821.
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):119–20.
Rampoldi, L., et al. “A conserved sorting-associated protein is mutant in chorea-acanthocytosis.” Nat Genet, vol. 28, no. 2, June 2001, pp. 119–20. Pubmed, doi:10.1038/88821.
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, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):119–120.
Published In
Nat Genet
DOI
ISSN
1061-4036
Publication Date
June 2001
Volume
28
Issue
2
Start / End Page
119 / 120
Location
United States
Related Subject Headings
- Vesicular Transport Proteins
- Transcription, Genetic
- Sequence Homology, Amino Acid
- Saccharomyces cerevisiae Proteins
- Proteins
- Protein Transport
- Pedigree
- Mutation
- Humans
- Haplotypes