Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis w...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton
Format: Artikel
Sprache:English
Veröffentlicht: Public Library of Science (PLoS) 2007-06-01
Schriftenreihe:PLoS Genetics
Online Zugang:http://europepmc.org/articles/PMC1892049?pdf=render

Online

http://europepmc.org/articles/PMC1892049?pdf=render

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