Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis

Journal of Clinical Investigation

Volumn 110, Issue 9, 2002, Pages 1301-1308

  Bejaoui, Khemissa ^a   Uchida, Yoshikazu ^b,c   Yasuda, Satoshi ^d   Ho, Mengfatt ^a   Nishijima, Masahiro ^d   Brown Jr , Robert H ^a   Holleran, Walter M ^b,c   Hanada, Kentaro ^d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d NATIONAL INSTITUTE OF INFECTIOUS DISEASES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; SERINE PALMITOYLTRANSFERASE; SPHINGOLIPID;

ARTICLE; CHO CELL; CONTROLLED STUDY; DEGENERATIVE DISEASE; DOMINANT INHERITANCE; ENZYME ACTIVITY; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; LYMPHOBLAST; NEUROPATHY; PRIORITY JOURNAL; PROTEIN INTERACTION;

EID: 0036839943     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0216450     Document Type: Article

References (41)

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