Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 17

Results: 22

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4829, doi. 10.1093/hmg/ddv207

By:

Min Peng;
Ostrovsky, Julian;
Young Joon Kwon;
Polyak, Erzsebet;
Licata, Joseph;
Mai Tsukikawa;
Marty, Eric;
Thomas, Jeffrey;
Felix, Carolyn A.;
Rui Xiao;
Zhe Zhang;
Gasser, David L.;
Argon, Yair;
Falk, Marni J.

Publication type:

Article

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4848, doi. 10.1093/hmg/ddv208

By:

May, Melanie;
Kyu-Seok Hwang;
Miles, Judith;
Williams, Charlie;
Niranjan, Tejasvi;
Kahler, Stephen G.;
Chiurazzi, Pietro;
Steindl, Katharina;
Van Der Spek, Peter J.;
Swagemakers, Sigrid;
Mueller, Jennifer;
Stefl, Shannon;
Alexov, Emil;
Jeong-Im Ryu;
Jung-Hwa Choi;
Hyun-Taek Kim;
Tarpey, Patrick;
Neri, Giovanni;
Holloway, Lynda;
Skinner, Cindy

Publication type:

Article

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4984, doi. 10.1093/hmg/ddv220

By:

Hirst, Jennifer;
Edgar, James R.;
Esteves, Typhaine;
Darios, Frédéric;
Madeo, Marianna;
Chang, Jaerak;
Roda, Ricardo H.;
Dürr, Alexandra;
Anheim, Mathieu;
Gellera, Cinzia;
Li, Jun;
Züchner, Stephan;
Mariotti, Caterina;
Stevanin, Giovanni;
Blackstone, Craig;
Kruer, Michael C.;
Robinson, Margaret S.

Publication type:

Article

Fingolimod (FTY720) enhances hippocampal synaptic plasticity and memory in Huntington’s disease by preventing p75NTR up-regulation and astrocyte-mediated inflammation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4958, doi. 10.1093/hmg/ddv218

By:

Miguez, Andrés;
Barriga, Gerardo García-Díaz;
Brito, Verónica;
Straccia, Marco;
Giralt, Albert;
Ginés, Silvia;
Canals, Josep M.;
Alberch, Jordi

Publication type:

Article

Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4916, doi. 10.1093/hmg/ddv214

By:

Rouillon, Jérémy;
Poupiot, Jérôme;
Zocevic, Aleksandar;
Amor, Fatima;
Léger, Thibaut;
Garcia, Camille;
Camadro, Jean-Michel;
Wong, Brenda;
Pinilla, Robin;
Cosette, Jérémie;
Coenen-Stass, Anna M. L.;
Mcclorey, Graham;
Roberts, Thomas C.;
Wood, Matthew J. A.;
Servais, Laurent;
Udd, Bjarne;
Voit, Thomas;
Richard, Isabelle;
Svinartchouk, Fedor

Publication type:

Article

The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4901, doi. 10.1093/hmg/ddv213

By:

Xinliang Sun;
Hongbo Chen;
Zaian Deng;
Bo Hu;
Hui Luo;
Xiaobin Zeng;
Liqiao Han;
Guoping Cai;
Lan Ma

Publication type:

Article

Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4792, doi. 10.1093/hmg/ddv204

By:

Rabionet, Mariona;
Bayerle, Aline;
Jennemann, Richard;
Heid, Hans;
Fuchser, Jens;
Marsching, Christian;
Porubsky, Stefan;
Bolenz, Christian;
Guillou, Florian;
Gröne, Hermann-Josef;
Gorgas, Karin;
Sandhoff, Roger

Publication type:

Article

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4817, doi. 10.1093/hmg/ddv206

By:

Jong-Won Lim;
Snider, Lauren;
Zizhen Yao;
Tawil, Rabi;
Van Der Maarel, Silvère M.;
Rigo, Frank;
Bennett, C. Frank;
Filippova, Galina N.;
Tapscott, Stephen J.

Publication type:

Article

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 5060, doi. 10.1093/hmg/ddv211

By:

Cuellar-Partida, Gabriel;
Springelkamp, Henriët;
Lucas, Sionne E. M.;
Yazar, Seyhan;
Hewitt, Alex W.;
Iglesias, Adriana I.;
Montgomery, Grant W.;
Martin, Nicholas G.;
Pennell, Craig E.;
van Leeuwen, Elisabeth M.;
Verhoeven, Virginie J. M.;
Hofman, Albert;
Uitterlinden, André G.;
Ramdas, Wishal D.;
Wolfs, Roger. C. W.;
Vingerling, Johannes R.;
Brown, Matthew A.;
Mills, Richard A.;
Craig, Jamie E.;
Klaver, Caroline C. W.

Publication type:

Article

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4948, doi. 10.1093/hmg/ddv216

By:

Hukema, Renate K.;
Buijsen, Ronald A. M.;
Schonewille, Martijn;
Raske, Chris;
Severijnen, Lies-Anne W. F. M.;
Nieuwenhuizen Bakker, Ingeborg;
Verhagen, Rob F. M.;
van Dessel, Lisanne;
Maas, Alex;
Charlet Berguerand, Nicolas;
De Zeeuw, Chris I.;
Hagerman, Paul J.;
Berman, Robert F.;
Willemsen, Rob

Publication type:

Article

I2020T mutant LRRK2 iPSC-derived neurons in the Sagamihara family exhibit increased Tau phosphorylation through the AKT/GSK-3β signaling pathway.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4879, doi. 10.1093/hmg/ddv212

By:

Etsuro Ohta;
Tomoko Nihira;
Akiko Uchino;
Yoichi Imaizumi;
Yohei Okada;
Wado Akamatsu;
Kayoko Takahashi;
Hideki Hayakawa;
Makiko Nagai;
Manabu Ohyama;
Masafuchi Ryo;
Mieko Ogino;
Shigeo Murayama;
Akihiko Takashima;
Kazutoshi Nishiyama;
Yoshikuni Mizuno;
Hideki Mochizuki;
Fumiya Obata;
Hideyuki Okano

Publication type:

Article

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 5015, doi. 10.1093/hmg/ddv222

By:

Homedan, Chadi;
Schmitt, Caroline;
Laafi, Jihane;
Gueguen, Naïg;
Desquiret-Dumas, Valérie;
Lenglet, Hugo;
Karim, Zoubida;
Gouya, Laurent;
Deybach, Jean-Charles;
Simard, Gilles;
Puy, Hervé;
Malthièry, Yves;
Reynier, Pascal

Publication type:

Article

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4775, doi. 10.1093/hmg/ddv182

By:

Loveday, Chey;
Tatton-Brown, Katrina;
Clarke, Matthew;
Westwood, Isaac;
Renwick, Anthony;
Ramsay, Emma;
Nemeth, Andrea;
Campbell, Jennifer;
Joss, Shelagh;
Gardner, McKinlay;
Zachariou, Anna;
Elliott, Anna;
Ruark, Elise;
van Montfort, Rob;
Rahman, Nazneen

Publication type:

Article

The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4997, doi. 10.1093/hmg/ddv221

By:

Laclef, Christine;
Anselme, Isabelle;
Besse, Laurianne;
Catala, Martin;
Palmyre, Aurélien;
Baas, Dominique;
Paschaki, Marie;
Pedraza, Maria;
Métin, Christine;
Durand, Bénédicte;
Schneider-Maunoury, Sylvie

Publication type:

Article

Decreased glycogen synthase kinase-3 levels and activity contribute to Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 5040, doi. 10.1093/hmg/ddv224

By:

Fernández-Nogales, Marta;
Hernández, Félix;
Miguez, Andrés;
Alberch, Jordi;
Ginés, Silvia;
Pérez-Navarro, Esther;
Lucas, José J.

Publication type:

Article

Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 5024, doi. 10.1093/hmg/ddv223

By:

Cesario, Jeffry M.;
Malt, Andre Landin;
Deacon, Lindsay J.;
Sandberg, Magnus;
Vogt, Daniel;
Zuojian Tang;
Yangu Zhao;
Brown, Stuart;
Rubenstein, John L.;
Juhee Jeong

Publication type:

Article

A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 5053, doi. 10.1093/hmg/ddv210

By:

Chesi, Alessandra;
Mitchell, Jonathan A.;
Kalkwarf, Heidi J.;
Bradfield, Jonathan P.;
Lappe, Joan M.;
McCormack, Shana E.;
Gilsanz, Vicente;
Oberfield, Sharon E.;
Hakonarson, Hakon;
Shepherd, John A.;
Kelly, Andrea;
Zemel, Babette S.;
Grant, Struan F. A.

Publication type:

Article

Oxidative metabolism in YAC128 mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4862, doi. 10.1093/hmg/ddv209

By:

Hamilton, James;
Pellman, Jessica J.;
Brustovetsky, Tatiana;
Harris, Robert A.;
Brustovetsky, Nickolay

Publication type:

Article

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4933, doi. 10.1093/hmg/ddv215

By:

Chaoui, Asma;
Kavo, Anthula;
Baral, Viviane;
Watanabe, Yuli;
Lecerf, Laure;
Colley, Alison;
Mendoza-Londono, Roberto;
Pingault, Veronique;
Bondurand, Nadege

Publication type:

Article

Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4971, doi. 10.1093/hmg/ddv219

By:

Bisset, Darren R.;
Stepniak-Konieczna, Ewa A.;
Zavaljevski, Maja;
Wei, Jessica;
Carter, Gregory T.;
Weiss, Michael D.;
Chamberlain, Joel R.

Publication type:

Article

Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4780, doi. 10.1093/hmg/ddv202

By:

Tomonori Aikawa;
Kaoru Mogushi;
Kumiko Iijima-Tsutsui;
Kinya Ishikawa;
Miyano Sakurai;
Hiroshi Tanaka;
Hidehiro Mizusawa;
Kei Watase

Publication type:

Article

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 17, p. 4809, doi. 10.1093/hmg/ddv205

By:

Balestra, Dario;
Barbon, Elena;
Scalet, Daniela;
Cavallari, Nicola;
Perrone, Daniela;
Zanibellato, Silvia;
Bernardi, Francesco;
Pinotti, Mirko

Publication type:

Article

Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 17

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Fingolimod (FTY720) enhances hippocampal synaptic plasticity and memory in Huntington’s disease by preventing p75<sup>NTR</sup> up-regulation and astrocyte-mediated inflammation.

Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.

The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.

Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors.

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

I2020T mutant LRRK2 iPSC-derived neurons in the Sagamihara family exhibit increased Tau phosphorylation through the AKT/GSK-3β signaling pathway.

Mitochondrial energetic defects in muscle and brain of a Hmbs<sup>-/-</sup> mouse model of acute intermittent porphyria.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.

Decreased glycogen synthase kinase-3 levels and activity contribute to Huntington's disease.

Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57<sup>Kip2</sup>.

A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.

Oxidative metabolism in YAC128 mouse model of Huntington's disease.

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.

Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model.

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.