Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

Journal of Biological Chemistry

Volumn 285, Issue 15, 2010, Pages 11178-11187

  Penno, Anke ^a,b   Reilly, Mary M ^c   Houlden, Henry ^c   Laurá, Matilde ^c   Rentsch, Katharina ^a   Niederkofler, Vera ^d   Stoeckli, Esther T ^d   Nicholson, Garth ^e   Eichler, Florian ^f   Brown Jr , Robert H ^f,g   Von Eckardstein, Arnold ^a,b   Hornemann, Thorsten ^a,b  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b ETH ZURICH   (Switzerland)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e Department of Microbiology and Infectious Diseases   (Australia)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DE NOVO SYNTHESIS; GAIN-OF FUNCTION; HEK293 CELLS; HYDROXYL GROUPS; NEURITES; NEUROFILAMENTS; NEUROTOXIC EFFECTS; NEUROTOXICITY; SENSORY NEURONS; SERINE PALMITOYLTRANSFERASES; SPHINGOLIPIDS; SUBSTRATE SPECIFICITY;

AMINO ACIDS; METABOLISM; METABOLITES; NEURONS; PHOSPHATASES;

LIPIDS;

1 DEOXYSPHINGANINE; DEOXYMETHYLSPHINGANINE; HYDROXYL GROUP; PROTEIN SPTLC1; SERINE PALMITOYLTRANSFERASE; SPHINGANINE; SPHINGOLIPID; UNCLASSIFIED DRUG;

ARTICLE; CELL STRAIN HEK293; CONTROLLED STUDY; EMBRYO; ENZYME SPECIFICITY; ENZYME SUBSTRATE; GENE MUTATION; HEREDITARY SENSORY NEUROPATHY TYPE 1; HUMAN; HUMAN CELL; LYMPHOBLAST; NERVE FIBER GROWTH; NEUROFILAMENT; NEUROPATHY; NEUROTOXICITY; PRIORITY JOURNAL; SENSORY NERVE CELL; TOXICOKINETICS;

ANIMALS; CHICK EMBRYO; FUMONISINS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; LIPIDS; LYMPHOCYTES; MODELS, BIOLOGICAL; MUTATION; NEURITES; NEURONS; NEUROTOXINS; SERINE C-PALMITOYLTRANSFERASE; SPHINGOLIPIDS; SUBSTRATE SPECIFICITY;

EID: 77951218516     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M109.092973     Document Type: Article

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