GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

A, Kolicheski; GS, Johnson; NA, Villani; DP, O'Brien; T, Mhlanga-Mutangadura; DA, Wenger; K, Mikoloski; JS, Eagleson; JF, Taylor; RD, Schnabel; ML, Katz

doi:10.1111/jvim.14794

Public

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Shared by NobleBlocks on Aug 20, 2017 • 12:00 AM UTC

Authors:

Kolicheski A

Johnson GS

Villani NA

Abstract

Consistent with a tentative diagnosis of neuronal ceroid lipofuscinosis (NCL), autofluorescent cytoplasmic storage bodies were found in neurons from the brains of 2 related Shiba Inu dogs with a young-adult onset, progressive neurodegenerative disease. Unexpectedly, no potentially causal NCL-related...

Subject

Lysosomal Storage Disease

Sandhoff Disease

Whole-genome Sequence

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