17 results for author:"Denefle P." in Literature citations
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| AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Buj-Bello A., Fougerousse F., Schwab Y., Messaddeq N., Spehner D., Pierson C.R., Durand M., Kretz C., Danos O., Douar A.M. et al. Hum. Mol. Genet. 17:2132-2143(2008) · Mapped (58) |
| In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Tregouet D.A., Ricard S., Nicaud V., Arnould I., Soubigou S., Rosier M., Duverger N., Poirier O., Mace S., Kee F. et al. Arterioscler. Thromb. Vasc. Biol. 24:775-781(2004) · Mapped (8) |
| Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Itier J.M., Ibanez P., Mena M.A., Abbas N., Cohen-Salmon C., Bohme G.A., Laville M., Pratt J., Corti O., Pradier L. et al. Hum. Mol. Genet. 12:2277-2291(2003) · Mapped (9) |
| Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Annilo T., Shulemin S., Chen Z.Q., Arnould I., Prades C., Lemoine C., Maintoux-Larois C., Devaud C., Dean M., Denefle P. et al. Cytogenet. Genome Res. 98:169-176(2002) · UniProtKB (1) · Mapped (1) |
| The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. Prades C., Arnould I., Annilo T., Shulenin S., Chen Z.-Q., Orosco L., Triunfol M., Devaud C., Maintoux-Larois C., Lafargue C. et al. Cytogenet. Genome Res. 98:160-168(2002) · UniProtKB (2) · Mapped (2) |
| Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology. Peelman F., Labeur C., Vanloo B., Roosbeek S., Devaud C., Duverger N., Denefle P., Rosier M., Vandekerckhove J., Rosseneu M. J. Mol. Biol. 325:259-274(2003) · Mapped (2) |
| Interfacial exclusion pressure determines the ability of apolipoprotein A-IV truncation mutants to activate cholesterol ester transfer protein. Weinberg R.B., Anderson R.A., Cook V.R., Emmanuel F., Denefle P., Tall A.R., Steinmetz A. J. Biol. Chem. 277:21549-21553(2002) · Mapped (2) |
| Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter. Broccardo C., Osorio J., Luciani M.-F., Schriml L.M., Prades C., Shulenin S., Arnould I., Naudin L., Lafargue C., Rosier M. et al. Cytogenet. Cell Genet. 92:264-270(2001) · UniProtKB (2) · Mapped (4) |
| Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects. Periquet M., Luecking C.B., Vaughan J.R., Bonifati V., Duerr A., De Michele G., Horstink M., Farrer M., Illarioshkin S.N., Pollak P. et al. Am. J. Hum. Genet. 68:617-626(2001) · UniProtKB (1) |
| Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter. Santamarina-Fojo S., Peterson K.M., Knapper C.L., Qiu Y., Freeman L.A., Cheng J.-F., Osorio J., Remaley A.T., Yang X.-P., Haudenschild C.C. et al. Proc. Natl. Acad. Sci. U.S.A. 97:7987-7992(2000) · UniProtKB (1) |
| Association between early-onset Parkinson's disease and mutations in the parkin gene. Luecking C.B., Duerr A., Bonifati V., Vaughan J.R., De Michele G., Gasser T., Harhangi B.S., Meco G., Denefle P., Wood N.W. et al. N. Engl. J. Med. 342:1560-1567(2000) · UniProtKB (1) · Mapped (16) |
| Functional screening of an asthma QTL in YAC transgenic mice. Symula D.J., Frazer K.A., Ueda Y., Denefle P., Stevens M.E., Wang Z.E., Locksley R., Rubin E.M. Nat. Genet. 23:241-244(1999) · Mapped (5) |
| Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Rust S., Rosier M., Funke H., Real J., Amoura Z., Piette J.-C., Deleuze J.-F., Brewer H.B. Jr., Duverger N., Denefle P. et al. Nat. Genet. 22:352-355(1999) · UniProtKB (1) |
| A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Abbas N., Luecking C.B., Ricard S., Duerr A., Bonifati V., De Michele G., Bouley S., Vaughan J.R., Gasser T., Marconi R. et al. Hum. Mol. Genet. 8:567-574(1999) · UniProtKB (1) |
| Regulation of rat liver apolipoprotein A-I, apolipoprotein A-II and acyl-coenzyme A oxidase gene expression by fibrates and dietary fatty acids. Berthou L., Saladin R., Yaqoob P., Branellec D., Calder P., Fruchart J.C., Denefle P., Auwerx J., Staels B. Eur. J. Biochem. 232:179-187(1995) · Mapped (1) |
| Functional characterization of human recombinant apolipoprotein AIV produced in Escherichia coli. Duverger N., Murry-Brelier A., Latta M., Reboul S., Castro G., Mayaux J.F., Fruchart J.C., Taylor J.M., Steinmetz A., Denefle P. Eur. J. Biochem. 201:373-383(1991) |
| Phosphorylation of human recombinant tyrosine hydroxylase isoforms 1 and 2: an additional phosphorylated residue in isoform 2, generated through alternative splicing. Le Bourdelles B., Horellou P., Le Caer J.P., Denefle P., Latta M., Haavik J., Guibert B., Mayaux J.F., Mallet J. J. Biol. Chem. 266:17124-17130(1991) · UniProtKB (1) |