Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 17

Results: 18

Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3235, doi. 10.1093/hmg/ddx206

By:

Vest, Katherine E.;
Phillips, Brittany L.;
Banerjee, Ayan;
Apponi, Luciano H.;
Dammer, Eric B.;
Weiting Xu;
Dinghai Zheng;
Julia Yu;
Bin Tian;
Pavlath, Grace K.;
Corbett, Anita H.

Publication type:

Article

Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3442, doi. 10.1093/hmg/ddx266

By:

de Vries, Paul S.;
Yu, Bing;
Feofanova, Elena V.;
Metcalf, Ginger A.;
Brown, Michael R.;
Zeighami, Atefeh L.;
Liu, Xiaoming;
Muzny, Donna M.;
Gibbs, Richard A.;
Boerwinkle, Eric;
Morrison, Alanna C.

Publication type:

Article

Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3432, doi. 10.1093/hmg/ddx265

By:

Shouneng Peng;
Deyssenroth, Maya A.;
Di Narzo, Antonio F.;
Lambertini, Luca;
Marsit, Carmen J.;
Jia Chen;
Ke Hao

Publication type:

Article

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3452, doi. 10.1093/hmg/ddx268

By:

Sundaramoorthy, Vinod;
Walker, Adam K.;
Tan, Vanessa;
Fifita, Jennifer A.;
Mccann, Emily P.;
Williams, Kelly L.;
Blair, Ian P.;
Guillemin, Gilles J.;
Farg, Manal A.;
Atkin, Julie D.

Publication type:

Article

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3451, doi. 10.1093/hmg/ddx245

By:

Schwarz, Nele;
Lane, Amelia;
Jovanovic, Katarina;
Parfitt, David A.;
Aguila, Monica;
Thompson, Clare L.;
da Cruz, Lyndon;
Coffey, Peter J.;
Chapple, J. Paul;
Hardcastle, Alison J.;
Cheetham, Michael E.

Publication type:

Article

TFEB activation restores migration ability to Tsc1-deficient adult neural stem/progenitor cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3303, doi. 10.1093/hmg/ddx214

By:

Magini, Alessandro;
Polchi, Alice;
Di Meo, Danila;
Mariucci, Giuseppina;
Sagini, Krizia;
De Marco, Fe derico;
Cassano, Tommaso;
Giovagnoli, Stefano;
Dolcetta, Diego;
Emiliani, Carla

Publication type:

Article

Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3285, doi. 10.1093/hmg/ddx212

By:

Koutsoulidou, Andrie;
Photiades, Marinos;
Kyriakides, Tassos C.;
Georgiou, Kristia;
Prokopi, Marianna;
Kapnisis, Konstantinos;
Łusakowska, Anna;
Nearchou, Marianna;
Christou, Yiolanda;
Papadimas, George K.;
Anayiotos, Andreas;
Kyriakou, Kyriakos;
Kararizou, Evangelia;
Papanicolaou, Eleni Zamba;
Phylactou, Leonidas A.

Publication type:

Article

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3421, doi. 10.1093/hmg/ddx233

By:

Prudencio, Mercedes;
Gonzales, Patrick K.;
Cook, Casey N.;
Gendron, Tania F.;
Daughrity, Lillian M.;
Song, Yuping;
Ebbert, Mark T. W.;
van Blitterswijk, Marka;
Zhang, Yong-Jie;
Jansen-West, Karen;
Baker, Matthew C.;
DeTure, Michael;
Rademakers, Rosa;
Boylan, Kevin B.;
Dickson, Dennis W.;
Petrucelli, Leonard;
Link, Christopher D.

Publication type:

Article

Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3409, doi. 10.1093/hmg/ddx230

By:

Sison, Samantha L.;
Patitucci, Teresa N.;
Seminary, Emily R.;
Villalon, Eric;
Lorson, Christian L.;
Ebert, Allison D.

Publication type:

Article

Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3396, doi. 10.1093/hmg/ddx229

By:

Pons, Marine;
Miguel, Laetitia;
Miel, Camille;
Avequin, Tracey;
Juge, François;
Frebourg, Thierry;
Campion, Dominique;
Lecourtois, Magalie

Publication type:

Article

Aqua-soluble DDQ reduces the levels of Drp1 and Aβ and inhibits abnormal interactions between Ab and Drp1 and protects Alzheimer's disease neurons from Aβ- and Drp1-induced mitochondrial and synaptic toxicities.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3375, doi. 10.1093/hmg/ddx226

By:

Kuruva, Chandra Sekhar;
Manczak, Maria;
Xiangling Yin;
Ogunmokun, Gilbert;
Reddy, Arubala P.;
Reddy, P. Hemachandra

Publication type:

Article

Comparison of spinocerebellar ataxia type 3 mouse models identifies early gain-of-function, cell-autonomous transcriptional changes in oligodendrocytes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3362, doi. 10.1093/hmg/ddx224

By:

Ramani, Biswarathan;
Panwar, Bharat;
Moore, Lauren R.;
Bo Wang;
Huang, Rogerio;
Yuanfang Guan;
Paulson, Henry L.

Publication type:

Article

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3352, doi. 10.1093/hmg/ddx221

By:

Matilainen, Sanna;
Carroll, Christopher J.;
Richter, Uwe;
Euro, Liliya;
Pohjanpelto, Max;
Paetau, Anders;
Isohanni, Pirjo;
Suomalainen, Anu

Publication type:

Article

SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3342, doi. 10.1093/hmg/ddx218

By:

Vianello, Sara;
Pantic, Boris;
Fusto, Aurora;
Bello, Luca;
Galletta, Eva;
Borgia, Doriana;
Gavassini, Bruno F.;
Semplicini, Claudio;
Sorarú, Gianni;
Vitiello, Libero;
Pegoraro, Elena

Publication type:

Article

Mitochondrial dysfunction underlies cognitive defects as a result of neural stem cell depletion and impaired neurogenesis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3327, doi. 10.1093/hmg/ddx217

By:

Khacho, Mireille;
Clark, Alysen;
Svoboda, Devon S.;
MacLaurin, Jason G.;
Lagace, Diane C.;
Park, David S.;
Slack, Ruth S.

Publication type:

Article

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3313, doi. 10.1093/hmg/ddx216

By:

Kalmar, Bernadett;
Innes, Amy;
Wanisch, Klaus;
Kolaszynska, Alicia Koyen;
Pandraud, Amelie;
Kelly, Gavin;
Abramov, Andrey Y.;
Reilly, Mary M.;
Schiavo, Giampietro;
Greensmith, Linda

Publication type:

Article

Epigallocatechin-3-gallate and related phenol compounds redirect the amyloidogenic aggregation pathway of ataxin-3 towards non-toxic aggregates and prevent toxicity in neural cells and Caenorhabditis elegans animal model.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3271, doi. 10.1093/hmg/ddx211

By:

Visentin, Cristina;
Pellistri, Francesca;
Natalello, Antonino;
Vertemara, Jacopo;
Bonanomi, Marcella;
Gatta, Elena;
Penco, Amanda;
Relini, Annalisa;
De Gioia, Luca;
Airoldi, Cristina;
Regonesi, Maria E.;
Tortora, Paolo

Publication type:

Article

FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 17, p. 3253, doi. 10.1093/hmg/ddx209

By:

Neben, Cynthia L.;
Tuzon, Creighton T.;
Xiaojing Mao;
Lay, Fides D.;
Merrill, Amy E.

Publication type:

Article