Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 22

Results: 24

A novel conditional knock-in approach de nes molecular and circuit effects of the DYT1 dystonia mutation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6459, doi. 10.1093/hmg/ddv355

By:

Weisheit, Corinne E.;
Dauer, William T.

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 22, p. 6564, doi. 10.1093/hmg/ddv365
Publication type:: Article

Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6350, doi. 10.1093/hmg/ddv344

By:

Varghese, Febin;
Atcheson, Erwan;
Bridges, Hannah R.;
Hirst, Judy

Publication type:

Article

CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6485, doi. 10.1093/hmg/ddv357

By:

Volodarsky, Michael;
Lichtig, Hava;
Leibson, Tom;
Sadaka, Yair;
Kadir, Rotem;
Perez, Yonatan;
Liani-Leibson, Keren;
Gradstein, Libe;
Shaco-Levy, Ruthy;
Shorer, Zamir;
Frank, Dale;
Birk, Ohad S.

Publication type:

Article

Mitochondrial ATP synthase activity is impaired by suppressed O-GlcNAcylation in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6492, doi. 10.1093/hmg/ddv358

By:

Moon-Yong Cha;
Hyun Jin Cho;
Chaeyoung Kim;
Yang Ouk Jung;
Min Jueng Kang;
Murray, Melissa E.;
Hyun Seok Hong;
Young-Joo Choi;
Heesun Choi;
Dong Kyu Kim;
Hyunjung Choi;
Jisoo Kim;
Dickson, Dennis W.;
Hyun Kyu Song;
Jin Won Cho;
Yi, Eugene C.;
Jungsu Kim;
Seok Min Jin;
Inhee Mook-Jung

Publication type:

Article

F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6314, doi. 10.1093/hmg/ddv340

By:

Zhi Dong Zhou;
Shao Ping Xie;
Sathiyamoorthy, Sushmitha;
Wuan Ting Saw;
Tan Ye Sing;
Shin Hui Ng;
Pek Hup Chua, Heidi;
Mei Yan Tang, Alyssa;
Shaffra, Fathima;
Zeng Li;
Hongyan Wang;
Ghim Hoe Ho, Patrick;
Kim Peng Lai, Mitchell;
Angeles, Dario C.;
Tit Meng Lim;
Eng-King Tan

Publication type:

Article

Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6265, doi. 10.1093/hmg/ddv329

By:

Haiyan Zhou;
Jinhong Meng;
Marrosu, Elena;
Janghra, Narinder;
Morgan, Jennifer;
Muntoni, Francesco

Publication type:

Article

Muscle weakness in TPM3-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6278, doi. 10.1093/hmg/ddv334

By:

Yuen, Michaela;
Cooper, Sandra T.;
Marston, Steve B.;
Nowak, Kristen J.;
McNamara, Elyshia;
Mokbel, Nancy;
Ilkovski, Biljana;
Ravenscroft, Gianina;
Rendu, John;
de Winter, Josine M.;
Klinge, Lars;
Beggs, Alan H.;
North, Kathryn N.;
Ottenheijm, Coen A. C.;
Clarke, Nigel F.

Publication type:

Article

Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6530, doi. 10.1093/hmg/ddv362

By:

Sassone, Francesca;
Margulets, Victoria;
Maraschi, AnnaMaria;
Rodighiero, Simona;
Passafaro, Maria;
Silani, Vincenzo;
Ciammola, Andrea;
Kirshenbaum, Lorrie A.;
Sassone, Jenny

Publication type:

Article

Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6515, doi. 10.1093/hmg/ddv360

By:

Larroquette, Frédérique;
Seto, Lesley;
Gaub, Perrine L.;
Kamal, Brishna;
Wallis, Deeann;
Larivière, Roxanne;
Vallée, Joanne;
Robitaille, Richard;
Hiroshi Tsuda

Publication type:

Article

Genetic dissection of the Down syndrome critical region.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6540, doi. 10.1093/hmg/ddv364

By:

Xiaoling Jiang;
Chunhong Liu;
Tao Yu;
Li Zhang;
Kai Meng;
Zhuo Xing;
Belichenko, Pavel V.;
Kleschevnikov, Alexander M.;
Pao, Annie;
Peresie, Jennifer;
Wie, Sarah;
Mobley, William C.;
Yu, Y. Eugene

Publication type:

Article

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6552, doi. 10.1093/hmg/ddv347

By:

Hauser, Michael A.;
Aboobakar, Inas F.;
Yutao Liu;
Miura, Shiroh;
Whigham, Benjamin T.;
Challa, Pratap;
Wheeler, Joshua;
Williams, Andrew;
Santiago-Turla, Cecelia;
Xuejun Qin;
Rautenbach, Robyn M.;
Ziskind, Ari;
Ramsay, Michèle;
Uebe, Steffen;
Lingyun Song;
Safi, Alexias;
Vithana, Eranga N.;
Takanori Mizoguchi;
Satoko Nakano;
Toshiaki Kubota

Publication type:

Article

Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6361, doi. 10.1093/hmg/ddv346

By:

Friedrich, Ulrike;
Datta, Shyamtanu;
Schubert, Thomas;
Plössl, Karolina;
Schneider, Magdalena;
Grassmann, Felix;
Fuchshofer, Rudolf;
Tiefenbach, Klaus-Jürgen;
Längst, Gernot;
Weber, Bernhard H. F.

Publication type:

Article

A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6331, doi. 10.1093/hmg/ddv342

By:

Campbell, Andrew;
Krupp, Brittany;
Bushman, Jared;
Noble, Mark;
Pröschel, Christoph;
Mayer-Pröschel, Margot

Publication type:

Article

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6293, doi. 10.1093/hmg/ddv337

By:

Kernohan, Kristin D.;
Tétreault, Martine;
Liwak-Muir, Urszula;
Geraghty, Michael T.;
Wen Qin;
Venkateswaran, Sunita;
Davila, Jorge;
Holcik, Martin;
Majewski, Jacek;
Richer, Julie;
Boycott, Kym M.

Publication type:

Article

The twenty-four KDa C-terminal tau fragment increases with aging in tauopathy mice: implications of prion-like properties.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6403, doi. 10.1093/hmg/ddv351

By:

Shin-Ei Matsumoto;
Yumiko Motoi;
Koichi Ishiguro;
Takeshi Tabira;
Fuyuki Kametani;
Masato Hasegawa;
Nobutaka Hattori

Publication type:

Article

De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6390, doi. 10.1093/hmg/ddv350

By:

Tsuyoshi Takagi;
Yuriko Nishizaki;
Fumiko Matsui;
Nobuaki Wakamatsu;
Yujiro Higashi

Publication type:

Article

Common and specific effects of TIE2 mutations causing venous malformations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6374, doi. 10.1093/hmg/ddv349

By:

Nätynki, Marjut;
Kangas, Jaakko;
Miinalainen, Ilkka;
Sormunen, Raija;
Pietilä, Riikka;
Soblet, Julie;
Boon, Laurence M.;
Vikkula, Miikka;
Limaye, Nisha;
Eklund, Lauri

Publication type:

Article

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6417, doi. 10.1093/hmg/ddv352

By:

Burrage, Lindsay C.;
Qin Sun;
Elsea, Sarah H.;
Ming-Ming Jiang;
Nagamani, Sandesh C. S.;
Frankel, Arthur E.;
Stone, Everett;
Alters, Susan E.;
Johnson, Dale E.;
Rowlinson, Scott W.;
Georgiou, George;
Lee, Brendan H.

Publication type:

Article

Ultra-structural time-course study in the C. elegans model for Duchenne muscular dystrophy highlights a crucial role for sarcomere-anchoring structures and sarcolemma integrity in the earliest steps of the muscle degeneration process.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6428, doi. 10.1093/hmg/ddv353

By:

Brouilly, Nicolas;
Lecroisey, Claire;
Martin, Edwige;
Pierson, Laura;
Mariol, Marie-Christine;
Hiroshi Qadota;
Labouesse, Michel;
Streichenberger, Nathalie;
Mounier, Nicole;
Gieseler, Kathrin

Publication type:

Article

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6473, doi. 10.1093/hmg/ddv356

By:

Beraldi, Rosanna;
Chun-Hung Chan;
Rogers, Christopher S.;
Kovács, Attila D.;
Meyerholz, David K.;
Trantzas, Constantin;
Lambertz, Allyn M.;
Darbro, Benjamin W.;
Weber, Krystal L.;
White, Katherine A. M.;
Rheeden, Richard V.;
Kruer, Michael C.;
Dacken, Brian A.;
Xiao-Jun Wang;
Davis, Bryan T.;
Rohret, Judy A.;
Struzynski, Jason T.;
Rohret, Frank A.;
Weimer, Jill M.;
Pearce, David A.

Publication type:

Article

High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6301, doi. 10.1093/hmg/ddv338

By:

Aarabi, Mahmoud;
San Gabriel, Maria C.;
Chan, Donovan;
Behan, Nathalie A.;
Caron, Maxime;
Pastinen, Tomi;
Bourque, Guillaume;
MacFarlane, Amanda J.;
Zini, Armand;
Trasler, Jacquetta

Publication type:

Article

Accelerated reproductive aging in females lacking a novel centromere protein SYCP2L.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6505, doi. 10.1093/hmg/ddv359

By:

Jian Zhou;
Stein, Paula;
Leu, N. Adrian;
Chmátal, Lukáš;
Jiangyang Xue;
Jun Ma;
Xiaoyan Huang;
Lampson, Michael A.;
Schultz, Richard M.;
Wang, P. Jeremy

Publication type:

Article

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 22, p. 6446, doi. 10.1093/hmg/ddv354

By:

Mookherjee, Suddhasil;
Hiriyanna, Suja;
Kaneshiro, Kayleigh;
Linjing Li;
Yichao Li;
Wei Li;
Haohua Qian;
Tiansen Li;
Khanna, Hemant;
Colosi, Peter;
Swaroop, Anand;
Zhijian Wu

Publication type:

Article