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

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 D Jr. Brown, Jeffery Vance, Margaret Pericak-Vance, Gabrielle Rudolf, Sophie Carrè, Elisa Alonso, Michela Manfredi, Andrea H. Németh, Anthony P. Monaco

Research output: Contribution to journalArticle

199 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)119-120
Number of pages2
JournalNature Genetics
Volume28
Issue number2
DOIs
StatePublished - 2001
Externally publishedYes

Fingerprint

Neuroacanthocytosis
Protein Transport
Mutant Proteins
Abnormal Erythrocytes
Abetalipoproteinemia
Hyperkinesis
Huntington Disease
Neurodegenerative Diseases
Mutation
Genes
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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. Nature Genetics, 28(2), 119-120. https://doi.org/10.1038/88821

A conserved sorting-associated protein is mutant in chorea-acanthocytosis. / Rampoldi, Luca; Dobson-Stone, Carol; Rubio, Justin P.; Danek, Adrian; Chalmers, Richard M.; Wood, Nicholas W.; Verellen, Christine; Ferrer, Xavier; Malandrini, Alessandro; Fabrizi, Gian M.; Brown, Robert D Jr.; Vance, Jeffery; Pericak-Vance, Margaret; Rudolf, Gabrielle; Carrè, Sophie; Alonso, Elisa; Manfredi, Michela; Németh, Andrea H.; Monaco, Anthony P.

In: Nature Genetics, Vol. 28, No. 2, 2001, p. 119-120.

Research output: Contribution to journalArticle

Rampoldi, L, Dobson-Stone, C, Rubio, JP, Danek, A, Chalmers, RM, Wood, NW, Verellen, C, Ferrer, X, Malandrini, A, Fabrizi, GM, Brown, RDJ, Vance, J, Pericak-Vance, M, Rudolf, G, Carrè, S, Alonso, E, Manfredi, M, Németh, AH & Monaco, AP 2001, 'A conserved sorting-associated protein is mutant in chorea-acanthocytosis', Nature Genetics, vol. 28, no. 2, pp. 119-120. 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. Nature Genetics. 2001;28(2):119-120. https://doi.org/10.1038/88821
Rampoldi, Luca ; Dobson-Stone, Carol ; Rubio, Justin P. ; Danek, Adrian ; Chalmers, Richard M. ; Wood, Nicholas W. ; Verellen, Christine ; Ferrer, Xavier ; Malandrini, Alessandro ; Fabrizi, Gian M. ; Brown, Robert D Jr. ; Vance, Jeffery ; Pericak-Vance, Margaret ; Rudolf, Gabrielle ; Carrè, Sophie ; Alonso, Elisa ; Manfredi, Michela ; Németh, Andrea H. ; Monaco, Anthony P. / A conserved sorting-associated protein is mutant in chorea-acanthocytosis. In: Nature Genetics. 2001 ; Vol. 28, No. 2. pp. 119-120.
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