A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat

Journal of Biological Chemistry

Volumn 286, Issue 30, 2011, Pages 26781-26793

  Mul, Joram D ^a,h   Nadra, Karim ^b   Jagalur, Noorjahan B ^c   Nijman, Isaac J ^a   Toonen, Pim W ^a   Médard, Jean Jacques ^b   Grès, Sandra ^d   De Bruin, Alain ^e   Han, Gil Soo ^f   Brouwers, Jos F ^g   Carman, George M ^f   Saulnier Blache, Jean Sébastien ^d   Meijer, Dies ^c   Chrast, Roman ^b   Cuppen, Edwin ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Departments of Clinical Biochemistry and Sports Medicine   (France)

^e UTRECHT UNIVERSITY   (Netherlands)

^f RUTGERS UNIVERSITY   (United States)

^g UTRECHT UNIVERSITY   (Netherlands)

^h UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOCYTES; BIOCHEMICAL PATHWAY; FRAMESHIFT; GENE ENCODES; HIND LIMBS; HUMAN DISEASE; LIPID METABOLISMS; LIPODYSTROPHY; MOLECULAR ANALYSIS; NON-ENZYMATIC; NONSENSE-MEDIATED DECAY; NULL ALLELES; POINT MUTATIONS; RAT MODEL; RODENT MODELS; SPLICE SITE;

GENES;

RATS;

ETHYLNITROSOUREA; PHOSPHATIDATE PHOSPHATASE; PHOSPHATIDATE PHOSPHATASE 1; PROTEIN LPIN1; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADIPOCYTE; ALLELE; ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DEMYELINATING DISEASE; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HINDLIMB PARALYSIS; HISTOCHEMISTRY; HYPOMORPHIC MUTATION; INTRON; LIPID METABOLISM; LIPODYSTROPHY; LPIN1 GENE; MALE; MUTAGENESIS; NEUROPATHY; NONHUMAN; PARALYSIS; PATHOGENESIS; PERINATAL PERIOD; PRIORITY JOURNAL; RAT; STOP CODON;

ALKYLATING AGENTS; ANIMALS; DEMYELINATING DISEASES; ETHYLNITROSOUREA; HEK293 CELLS; HUMANS; INTRONS; LIPODYSTROPHY; MICE; MUTAGENESIS; MUTATION; PHOSPHATIDATE PHOSPHATASE; PROTEIN STRUCTURE, TERTIARY; RATS; RATS, MUTANT STRAINS; RNA SPLICE SITES;

MUS; RATTUS; RODENTIA;

EID: 79960682025     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M110.197947     Document Type: Article

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