Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.

A, Kolicheski; GS, Johnson; DP, O'Brien; T, Mhlanga-Mutangadura; D, Gilliam; J, Guo; TD, Anderson-Sieg; RD, Schnabel; JF, Taylor; A, Lebowitz; B, Swanson; D, Hicks; ZE, Niman; FA, Wininger; MC, Carpentier; ML, Katz

doi:10.1111/jvim.13971

Public

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.

Shared by NobleBlocks on May 20, 2016 • 12:00 AM UTC

Authors:

Kolicheski A

Johnson GS

O'Brien DP

Abstract

Background Neuronal ceroid lipofuscinosis (NCL), a fatal neurodegenerative disease, has been diagnosed in young adult Australian Cattle Dogs.Objective Characterize the Australian Cattle Dog form of NCL and determine its molecular genetic cause.Animals Tissues from 4 Australian Cattle Dogs with NCL-l...

Subject

Autofluorescence

Molecular genetics

Lysosomal Storage Disease

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