Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment

Proceedings of the National Academy of Sciences of the United States of America

Volumn 94, Issue 15, 1997, Pages 8138-8143

  Liu, Yujing ^a   Hoffmann, Alexander ^d   Grinberg, Alexander ^b   Westphal, Heiner ^b   Mcdonald, Michael P ^c   Miller, Katherine M ^c   Crawley, Jacqueline N ^c   Sandhoff, Konrad ^d   Suzuki, Kinuko ^e   Proia, Richard L ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Animal model; GM2 gangliosidosis; Gene targeting; Lysosomal storage disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; GLYCOLIPID; GANGLIOSIDE GM2;

ANIMAL; ARTICLE; CEREBELLUM; DISEASE MODEL; ENZYMOLOGY; GANGLIOSIDOSIS; GENE VECTOR; GENETICS; HOMOZYGOTE; METABOLISM; MOTOR ACTIVITY; MOUSE; NERVE CELL; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; ANIMAL CELL; ANIMAL TISSUE; CEREBELLUM DISEASE; ENZYME SUBUNIT; GENE MUTATION; GM2 GANGLIOSIDOSIS; MOTOR DYSFUNCTION; NERVE DEGENERATION; NONHUMAN; PRIORITY JOURNAL; TISSUE DISTRIBUTION;

ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; CEREBELLUM; DISEASE MODELS, ANIMAL; GANGLIOSIDOSES; GENETIC VECTORS; GLYCOLIPIDS; HOMOZYGOTE; MICE; MOTOR ACTIVITY; NEURONS; PHENOTYPE;

EID: 0030610850     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.94.15.8138     Document Type: Article

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