Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features

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

Volumn 100, Issue 21, 2003, Pages 12325-12330

  Gupta, Praveena ^a   Soyombo, Abigail A ^a   Shelton, John M ^b   Wilkofsky, Ian G ^a   Wisniewski, Krystyna E ^c,d   Richardson, James A ^b   Hofmann, Sandra L ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^d SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; CLINICAL FEATURE; CONTROLLED STUDY; DEGENERATIVE DISEASE; ELECTRON MICROSCOPY; GENE; HISTOLOGY; IMMUNOHISTOCHEMISTRY; KNOCKOUT MOUSE; LIPOFUSCINOSIS; LYSOSOME STORAGE DISEASE; MOUSE; NEUROLOGIC DISEASE; NONHUMAN; PHENOTYPE; PPT2 GENE; PRIORITY JOURNAL; SPASTICITY; SPLENOMEGALY;

ANIMALS; BONE MARROW; BRAIN; GIANT CELLS; HUMANS; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; MACROPHAGES; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICROSCOPY, ELECTRON; NERVE DEGENERATION; NEURONAL CEROID-LIPOFUSCINOSES; PANCREAS; PHENOTYPE; SPLEEN; THIOLESTER HYDROLASES;

ANIMALIA;

EID: 0142123085     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.2033229100     Document Type: Article

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