A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. A genome-wide association study restricted this NCL locus to a 1.3 Mb region of canine chromosome 2 which contains canine ATP13A2. NCL-affected dogs were homozygous for a single-base deletion in ATP13A2, predic...

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Bibliographic Details
Main Authors: Fabiana H.G. Farias, Rong Zeng, Gary S. Johnson, Fred A. Wininger, Jeremy F. Taylor, Robert D. Schnabel, Stephanie D. McKay, Douglas N. Sanders, Hannes Lohi, Eija H. Seppälä, Claire M. Wade, Kerstin Lindblad-Toh, Dennis P. O'Brien, Martin L. Katz
Format: Article
Language:English
Published: Elsevier 2011-06-01
Series:Neurobiology of Disease
Subjects:
ATP13A2
Kufs disease
PARK9
Kufor-Rakeb syndrome
Parkinson's disease
Dog
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996111000635

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http://www.sciencedirect.com/science/article/pii/S0969996111000635

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