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
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
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
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
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
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
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