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

Michela Manfredi; Alessandro Malandrini; Luca Rampoldi; Xavier Ferrer; Robert Brown; Gabrielle Rudolf; Andrea H Németh; Elisa Alonso; Jeffery Vance; Nicholas W Wood; Sophie Carrè; Carol Dobson-Stone; Adrian Danek; Anthony P Monaco; Justin P Rubio; Christine Verellen; Margaret Pericak-Vance; Richard M Chalmers; Gian M Fabrizi

doi:10.1038/88821

Back

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

Journal article

Peer reviewed

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

Michela Manfredi, Alessandro Malandrini, Luca Rampoldi, Xavier Ferrer, Robert Brown, Gabrielle Rudolf, Andrea H Németh, Elisa Alonso, Jeffery Vance, Nicholas W Wood, …

Nature genetics, Vol.28(2), pp.119-120

2001-06

DOI: https://doi.org/10.1038/88821

PMID: 11381253

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.

Metrics

6 Record Views

237 Times Cited - Web of Science

See more details

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.225 Hematologic Diseases; 1.225.1476 Alloimmunization
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

Source: InCites

Details

Title: A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Creators: Michela Manfredi - Casa di Cura Poliambulanza Neurologica
Alessandro Malandrini - Istituto di Scienze Neurologiche
Luca Rampoldi - The Wellcome Trust Centre for Human Genetics
Xavier Ferrer - Hôpital du Haut-Lèveque, Centre Hospitalier Universitaire
Robert Brown - Cecil B. Day Laboratory for Muscle Research
Gabrielle Rudolf - Hôpitaux Universitaires
Andrea H Németh - The Wellcome Trust Centre for Human Genetics Department of Clinical Genetics, Churchill Hospital
Elisa Alonso - Department of Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez
Jeffery Vance - Duke University Medical Centre
Nicholas W Wood - Department of Clinical Neurology, Institute of Neurology
Sophie Carrè - Hôpitaux Universitaires
Carol Dobson-Stone - The Wellcome Trust Centre for Human Genetics
Adrian Danek - Neurologische Klinik, Ludwig-Maximilians-Universitãt
Anthony P Monaco - The Wellcome Trust Centre for Human Genetics
Justin P Rubio - The Walter and Eliza Hall Institute of Medical Research
Christine Verellen - Unité de Génétique Médicale
Margaret Pericak-Vance - Duke University Medical Centre
Richard M Chalmers - Department of Clinical Neurology, Institute of Neurology
Gian M Fabrizi - Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona
Publication Details: Nature genetics, Vol.28(2), pp.119-120
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 11381253
Record Identifier: 991031559094202976