| Title |
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
|
|---|---|
| Published in |
Nature Genetics, June 2001
|
| DOI | 10.1038/88821 |
| Pubmed ID | |
| Authors |
Luca Rampoldi, Carol Dobson-Stone, Justin P. Rubio, Adrian Danek, Richard M. Chalmers, Nicholas W. Wood, Christine Verellen, Xavier Ferrer, Alessandro Malandrini, Gian M. Fabrizi, Robert Brown, Jeffery Vance, Margaret Pericak-Vance, Gabrielle Rudolf, Sophie Carrè, Elisa Alonso, Michela Manfredi, Andrea H. Németh, Anthony P. Monaco |
| 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. |
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Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | <1% |
| United Kingdom | 1 | <1% |
| Unknown | 136 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 23 | 17% |
| Student > Master | 18 | 13% |
| Researcher | 16 | 12% |
| Student > Bachelor | 12 | 9% |
| Student > Doctoral Student | 9 | 7% |
| Other | 27 | 20% |
| Unknown | 33 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 36 | 26% |
| Agricultural and Biological Sciences | 32 | 23% |
| Medicine and Dentistry | 17 | 12% |
| Neuroscience | 9 | 7% |
| Unspecified | 2 | 1% |
| Other | 6 | 4% |
| Unknown | 36 | 26% |