A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

An autosomal recessive disease of Black Russian Terriers was previously described as a juvenile-onset, laryngeal paralysis and polyneuropathy similar to Charcot Marie Tooth disease in humans. We found that in addition to an axonal neuropathy, affected dogs exhibit microphthalmia, cataracts, and miot...

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Bibliographic Details
Main Authors: Tendai Mhlanga-Mutangadura, Gary S. Johnson, Robert D. Schnabel, Jeremy F. Taylor, Gayle C. Johnson, Martin L. Katz, G. Diane Shelton, Teresa E. Lever, Elizabeth Giuliano, Nicolas Granger, Jeremy Shomper, Dennis P. O'Brien
Format: Article
Language:English
Published: Elsevier 2016-02-01
Series:Neurobiology of Disease
Subjects:
Warburg micro syndrome
Martsolf syndrome
Spongiform encephalopathy
Endoplasmic reticulum
Rab GTPase
Membrane trafficking
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115300930

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http://www.sciencedirect.com/science/article/pii/S0969996115300930

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