Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 1

Results: 22

Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis†.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 82, doi. 10.1093/hmg/ddn319

By:

Cheroni, Cristina;
Marino, Marianna;
Tortarolo, Massimo;
Veglianese, Pietro;
De Biasi, Silvia;
Fontana, Elena;
Zuccarello, Laura Vitellaro;
Maynard, Christa J.;
Dantuma, Nico P.;
Bendotti, Caterina

Publication type:

Article

Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 142

By:

Dietrich, Paula;
Shanmugasundaram, Revathi;
E, Shuyu;
Dragatsis, Ioannis

Publication type:

Article

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 51, doi. 10.1093/hmg/ddn312

By:

van Wijk, Erwin;
Kersten, Ferry F.J.;
Kartono, Aileen;
Mans, Dorus A.;
Brandwijk, Kim;
Letteboer, Stef J.F.;
Peters, Theo A.;
Märker, Tina;
Yan, Xiumin;
Cremers, Cor W.R.J.;
Cremers, Frans P.M.;
Wolfrum, Uwe;
Roepman, Ronald;
Kremer, Hannie

Publication type:

Article

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 193, doi. 10.1093/hmg/ddn336

By:

Oishi, Kimihiko;
Zhang, Hui;
Gault, William J.;
Wang, Cindy J.;
Tan, Cheryl C.;
Kim, In-Kyong;
Ying, Huiwen;
Rahman, Tabassum;
Pica, Natalie;
Tartaglia, Marco;
Mlodzik, Marek;
Gelb, Bruce D.

Publication type:

Article

Transcript- and tissue-specific imprinting of a tumour suppressor gene.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 118, doi. 10.1093/hmg/ddn322

By:

Schulz, Reiner;
McCole, Ruth B.;
Woodfine, Kathryn;
Wood, Andrew J.;
Chahal, Mandeep;
Monk, David;
Moore, Gudrun E.;
Oakey, Rebecca J.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp131
Publication type:: Article

BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 128, doi. 10.1093/hmg/ddn323

By:

Esumi, Noriko;
Kachi, Shu;
Hackler, Laszlo;
Masuda, Tomohiro;
Yang, Zhiyong;
Campochiaro, Peter A.;
Zack, Donald J.

Publication type:

Article

The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 151, doi. 10.1093/hmg/ddn325

By:

Hartman, Tiffiney R.;
Liu, Dongyan;
Zilfou, Jack T.;
Robb, Victoria;
Morrison, Tasha;
Watnick, Terry;
Henske, Elizabeth P.

Publication type:

Article

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 12, doi. 10.1093/hmg/ddn309

By:

Viscomi, Carlo;
Spinazzola, Antonella;
Maggioni, Marco;
Fernandez-Vizarra, Erika;
Massa, Valeria;
Pagano, Claudio;
Vettor, Roberto;
Mora, Marina;
Zeviani, Massimo

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp129
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp130
Publication type:: Article

Hearing loss in a mouse model of Muenke syndrome.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 43, doi. 10.1093/hmg/ddn311

By:

Mansour, Suzanne L.;
Twigg, Stephen R.F.;
Freeland, Rowena M.;
Wall, Steven A.;
Li, Chaoying;
Wilkie, Andrew O.M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp132
Publication type:: Article

Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 105, doi. 10.1093/hmg/ddn321

By:

Bianchi, Veronica;
Farisello, Pasqualina;
Baldelli, Pietro;
Meskenaite, Virginia;
Milanese, Marco;
Vecellio, Matteo;
Mühlemann, Sven;
Lipp, Hans Peter;
Bonanno, Giambattista;
Benfenati, Fabio;
Toniolo, Daniela;
D'Adamo, Patrizia

Publication type:

Article

Mitochondrial abnormalities in spinal and bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 27, doi. 10.1093/hmg/ddn310

By:

Ranganathan, Srikanth;
Harmison, George G.;
Meyertholen, Kristin;
Pennuto, Maria;
Burnett, Barrington G.;
Fischbeck, Kenneth H.

Publication type:

Article

Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 202, doi. 10.1093/hmg/ddn337

By:

Guyon, Jeffrey R.;
Goswami, Julie;
Jun, Susan J.;
Thorne, Marielle;
Howell, Melanie;
Pusack, Timothy;
Kawahara, Genri;
Steffen, Leta S.;
Galdzicki, Michal;
Kunkel, Louis M.

Publication type:

Article

The conserved translocase Tim17 prevents mitochondrial DNA loss.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 65, doi. 10.1093/hmg/ddn313

By:

Iacovino, Michelina;
Granycome, Caroline;
Sembongi, Hiroshi;
Bokori-Brown, Monika;
Butow, Ronald A.;
Holt, Ian J.;
Bateman, Joseph M.

Publication type:

Article

Dissociation of tau toxicity and phosphorylation: role of GSK-3β, MARK and Cdk5 in a Drosophila model.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 164, doi. 10.1093/hmg/ddn326

By:

Chatterjee, Shreyasi;
Sang, Tzu-Kang;
Lawless, George M.;
Jackson, George R.

Publication type:

Article

New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 178, doi. 10.1093/hmg/ddn327

By:

Sakamoto, Kenji;
McCluskey, Michael;
Wensel, Theodore G.;
Naggert, Jürgen K.;
Nishina, Patsy M.

Publication type:

Article

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 75, doi. 10.1093/hmg/ddn318

By:

Monnier, Carine;
Dodé, Catherine;
Fabre, Ludovic;
Teixeira, Luis;
Labesse, Gilles;
Pin, Jean-Philippe;
Hardelin, Jean-Pierre;
Rondard, Philippe

Publication type:

Article

Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 97

By:

Briese, Michael;
Esmaeili, Behrooz;
Fraboulet, Sandrine;
Burt, Emma C.;
Christodoulou, Stefanos;
Towers, Paula R.;
Davies, Kay E.;
Sattelle, David B.

Publication type:

Article

Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 1, p. 1

By:

Campanella, Alessandro;
Rovelli, Elisabetta;
Santambrogio, Paolo;
Cozzi, Anna;
Taroni, Franco;
Levi, Sonia

Publication type:

Article