Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy

Human Molecular Genetics

Volumn 14, Issue 22, 2005, Pages 3507-3521

  McCampbell, Alexander ^a   Truong, David ^a   Broom, Daniel C ^a   Allchorne, Andrew ^a   Gable, Ken ^b   Cutler, Roy G ^c   Mattson, Mark P ^c   Woolf, Clifford J ^a   Frosch, Matthew P ^a   Harmon, Jeffrey M ^b   Dunn, Teresa M ^b   Brown Jr , Robert H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^c Intramural Research Program   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PROTEIN SPTLC1; SERINE PALMITOYLTRANSFERASE; SPHINGOLIPID; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL CULTURE; CONTROLLED STUDY; DISEASE SEVERITY; DORSAL ROOT; ENZYME ACTIVITY; ENZYME INHIBITION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC CODE; GENETIC TRANSFECTION; IN VIVO STUDY; LIPID METABOLISM; LIPOGENESIS; MAMMAL CELL; MOUSE; MYELINATION; NERVE FIBER; NONHUMAN; NONMYELINATED NERVE; ONSET AGE; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPINAL CORD; TRANSGENIC MOUSE; VENTRAL ROOT; WEIGHT REDUCTION; WESTERN BLOTTING; WILD TYPE; YEAST;

AGING; ANIMALS; AXONS; BEHAVIOR, ANIMAL; CHO CELLS; CRICETINAE; CRICETULUS; FEMALE; GENES, DOMINANT; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; MALE; MICE; MICE, TRANSGENIC; MUTATION; PANCREAS, EXOCRINE; SERINE C-PALMITOYLTRANSFERASE; TRANSFECTION;

ANIMALIA; MAMMALIA; MUS MUSCULUS;

EID: 27944499000     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi380     Document Type: Article

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