GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: A potential model for Tay Sachs disease

Molecular Genetics and Metabolism

Volumn 108, Issue 1, 2013, Pages 70-75

  Sanders, Douglas N ^a   Zeng, Rong ^b   Wenger, David A ^c   Johnson, Gary S ^b   Johnson, Gayle C ^b   Decker, Jared E ^d   Katz, Martin L ^a   Platt, Simon R ^e   O'Brien, Dennis P ^b  

^a University of Missouri   (United States)

^b UNIVERSITY OF MISSOURI   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d UNIVERSITY OF MISSOURI   (United States)

^e UNIVERSITY OF GEORGIA   (United States)

Author keywords

Animal models; Canine; GM2 ganglioside; Lysosomal storage disease; Tay Sachs disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; GANGLIOSIDE GM2;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD SAMPLING; CEREBELLAR ATAXIA; CONTROLLED STUDY; DISEASE MODEL; DOG; ELECTRON MICROSCOPY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME SUBSTRATE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HISTOPATHOLOGY; HOMOZYGOTE; JAPANESE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN HYDROLYSIS; PROTEIN SYNTHESIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TAY SACHS DISEASE;

ANIMALS; BASE SEQUENCE; DISEASE MODELS, ANIMAL; DNA PROBES; DOG DISEASES; DOGS; FEMALE; GANGLIOSIDOSES, GM2; HEXOSAMINIDASE B; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION;

ANIMALIA; CANIS FAMILIARIS;

EID: 84871714449     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.11.008     Document Type: Article

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