Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 13

Results: 15

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1485, doi. 10.1093/hmg/ddg175

By:

Huynh, Duong P.;
Yang, Hai-Tao;
Vakharia, Hema;
Nguyen, Dung;
Pulst, Stefan M.

Publication type:

Article

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1507, doi. 10.1093/hmg/ddg174

By:

Rapić-Otrin, Vesna;
Navazza, Valentina;
Nardo, Tiziana;
Botta, Elena;
McLenigan, Mary;
Bisi, Dawn C.;
Levine, Arthur S.;
Stefanini, Miria

Publication type:

Article

Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G αB-crystallin mutant.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1609, doi. 10.1093/hmg/ddg173

By:

Chávez Zobel, Aura T.;
Loranger, Anne;
Marceau, Normand;
Thériault, Jimmy R.;
Lambert, Herman;
Landry, Jacques

Publication type:

Article

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1631, doi. 10.1093/hmg/ddg172

By:

Krakowiak, Patrycja A.;
Wassif, Christopher A.;
Kratz, Lisa;
Cozma, Diana;
Kovářová, Martina;
Harris, Ginny;
Grinberg, Alexander;
Yang, Yinzi;
Hunter, Alasdair G.W.;
Tsokos, Maria;
Kelley, Richard I.;
Porter, Forbes D.

Publication type:

Article

Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1543, doi. 10.1093/hmg/ddg170

By:

Dalloz, Cécile;
Sarig, Rachel;
Fort, Patrice;
Yaffe, David;
Bordais, Agnès;
Pannicke, Thomas;
Grosche, Jens;
Mornet, Dominique;
Reichenbach, Andreas;
Sahel, José;
Nudel, Uri;
Rendon, Alvaro

Publication type:

Article

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1555, doi. 10.1093/hmg/ddg169

By:

Slow, Elizabeth J.;
van Raamsdonk, Jeremy;
Rogers, Daniel;
Coleman, Sarah H.;
Graham, Rona K.;
Deng, Yu;
Oh, Rosemary;
Bissada, Nagat;
Hossain, Sazzad M.;
Yang, Yu-Zhou;
Li, Xiao-Jiang;
Simpson, Elizabeth M.;
Gutekunst, Claire-Anne;
Leavitt, Blair R.;
Hayden, Michael R.

Publication type:

Article

Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1535, doi. 10.1093/hmg/ddg168

By:

Okamura-Oho, Yuko;
Miyashita, Toshiyuki;
Nagao, Kazuaki;
Shima, Seigo;
Ogata, Yukie;
Katada, Toshiaki;
Nishina, Hiroshi;
Yamada, Masao

Publication type:

Article

Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regions.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1569, doi. 10.1093/hmg/ddg167

By:

Sandovici, Ionel;
Leppert, Mark;
Hawk, Patricia Red;
Suarez, Alexander;
Linares, Yendi;
Sapienza, Carmen

Publication type:

Article

The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1523, doi. 10.1093/hmg/ddg166

By:

Cobbold, Christian;
Coventry, Julie;
Ponnambalam, Sreenivasan;
Monaco, Anthony P.

Publication type:

Article

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1463, doi. 10.1093/hmg/ddg165

By:

Frints, Suzanna G. M.;
Marynen, Peter;
Hartmann, Dieter;
Fryns, Jean-Pierre;
Steyaert, Jean;
Schachner, Melitta;
Rolf, Bettina;
Craessaerts, Katleen;
Snellinx, An;
Hollanders, Karen;
D'Hooge, Rudi;
De Deyn, Peter P.;
Froyen, Guy

Publication type:

Article

Genetic modifiers interact with maternal determinants in vascular development of Tgfb1−/− mice.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1579, doi. 10.1093/hmg/ddg164

By:

Tang, Yang;
McKinnon, Margaret L.;
Leong, Li Ming;
Rusholme, Sarah A. B.;
Wang, Susana;
Akhurst, Rosemary J.

Publication type:

Article

Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein context.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1621, doi. 10.1093/hmg/ddg163

By:

Jackson, Walker S.;
Tallaksen-Greene, Sara J.;
Albin, Roger L.;
Detloff, Peter J.

Publication type:

Article

DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1591, doi. 10.1093/hmg/ddg162

By:

Morris, Jill A.;
Kandpal, Geeta;
Ma, Lei;
Austin, Christopher P.

Publication type:

Article

Transglutaminase potentiates ligand-dependent proteasome dysfunction induced by polyglutamine-expanded androgen receptor.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1497, doi. 10.1093/hmg/ddg161

By:

Mandrusiak, Lisa M.;
Beitel, Lenore K.;
Wang, Xiaoling;
Scanlon, Thomas C.;
Chevalier-Larsen, Erica;
Merry, Diane E.;
Trifiro, Mark A.

Publication type:

Article

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 13, p. 1475, doi. 10.1093/hmg/ddg160

By:

Robinson-White, Audrey;
Hundley, Thomas R.;
Shiferaw, Miriam;
Bertherat, Jérôme;
Sandrini, Fabiano;
Stratakis, Constantine A.

Publication type:

Article