Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 9

Results: 14

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1664, doi. 10.1093/hmg/ddy067

By:

Teslovich, Tanya M.;
Kim, Daniel Seung;
Xianyong Yin;
Stančcáková, Alena;
Jackson, Anne U.;
Wielscher, Matthias;
Naj, Adam;
Perry, John R. B.;
Huyghe, Jeroen R.;
Stringham, Heather M.;
Davis, James P.;
Raulerson, Chelsea K.;
Welch, Ryan P.;
Fuchsberger, Christian;
Locke, Adam E.;
Xueling Sim;
Chines, Peter S.;
Narisu, Narisu;
Kangas, Antti J.;
Soininen, Pasi

Publication type:

Article

Superoxide dismutating molecules rescue the toxic effects of PINK1 and parkin loss.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1618, doi. 10.1093/hmg/ddy069

By:

Alice Biosa;
Alvaro Sanchez-Martinez;
Roberta Filograna;
Ana Terriente-Felix;
Sarah M. Alam;
Mariano Beltramini;
Luigi Bubacco;
Marco Bisaglia;
Whitworth, Alexander J.

Publication type:

Article

BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1630, doi. 10.1093/hmg/ddy070

By:

Milenkovic, Andrea;
Milenkovic, Vladimir M.;
Wetzel, Christian H.;
Weber, Bernhard H. F.

Publication type:

Article

SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1608, doi. 10.1093/hmg/ddy068

By:

Huntoon, Virginia;
Widrick, Jeffrey J.;
Sanchez, Colline;
Rosen, Samantha M.;
Kutchukian, Candice;
Cao, Siqi;
Pierson, Christopher R.;
Xiaoli Liu;
Perrella, Mark A.;
Beggs, Alan H.;
Jacquemond, Vincent;
Agrawal, Pankaj B.

Publication type:

Article

TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1654, doi. 10.1093/hmg/ddy073

By:

Ogórek, Barbara;
Lam, Hilaire C.;
Khabibullin, Damir;
Heng-Jia Liu;
Nijmeh, Julie;
Triboulet, Robinson;
Kwiatkowski, David J.;
Gregory, Richard I.;
Henske, Elizabeth P.

Publication type:

Article

Small molecule modulator of protein disulfide isomerase attenuates mutant huntingtin toxicity and inhibits endoplasmic reticulum stress in a mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1545, doi. 10.1093/hmg/ddy061

By:

Xiao Zhou;
Gang Li;
Anna Kaplan;
Gaschler, Michael M.;
Xiaoyan Zhang;
Zhipeng Hou;
Mali Jiang;
Zott, Roseann;
Cremers, Serge;
Stockwell, Brent R.;
Duan, Wenzhen

Publication type:

Article

Calpain 3 and CaMKIIb signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1642, doi. 10.1093/hmg/ddy071

By:

Kramerova, Irina;
Torres, Jorge A.;
Eskin, Ascia;
Nelson, Stanley F.;
Spencer, Melissa J.

Publication type:

Article

CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1572, doi. 10.1093/hmg/ddy064

By:

Trazzi, Stefania;
De Franceschi, Marianna;
Fuchs, Claudia;
Bastianini, Stefano;
Viggiano, Rocchina;
Lupori, Leonardo;
Mazziotti, Raffaele;
Medici, Giorgio;
Martire, Viviana Lo;
Ren, Elisa;
Rimondini, Roberto;
Zoccoli, Giovanna;
Bartesaghi, Renata;
Pizzorusso, Tommaso;
Ciani, Elisabetta

Publication type:

Article

TDP-43 controls lysosomal pathways thereby determining its own clearance and cytotoxicity.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1593, doi. 10.1093/hmg/ddy066

By:

Leibiger, Christine;
Deisel, Jana;
Aufschnaiter, Andreas;
Ambros, Stefanie;
Tereshchenko, Maria;
Verheijen, Bert M.;
ttner, Sabrina Bü;
Braun, Ralf J.

Publication type:

Article

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1556, doi. 10.1093/hmg/ddy062

By:

Macken, Grace Mc;
Cox, Dan;
Roos, Andreas;
Müller, Juliane;
Whittaker, Roger;
Lochmüller, Hanns

Publication type:

Article

How the most common mitochondrial DNA mutation (m.3243A>G) vanishes from leukocytes: a mathematical model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1565, doi. 10.1093/hmg/ddy063

By:

Veitia, Reiner A.

Publication type:

Article

Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1533, doi. 10.1093/hmg/ddy060

By:

Flores, Daniel J.;
Duong, ThuyVy;
Brandenberger, Luke O.;
Mitra, Apratim;
Shirali, Aditya;
Johnson, John C.;
Springer, Danielle;
Noguchi, Audrey;
Zu-Xi Yu;
Ebert, Steven N.;
Ludwig, Andreas;
Knollmann, Bjorn C.;
Levin, Mark D.;
Pfeifer, Karl

Publication type:

Article

Transcriptome analysis reveals intermittent fasting-induced genetic changes in ischemic stroke.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1497, doi. 10.1093/hmg/ddy057

By:

Joonki Kim;
Sung-Wook Kang;
Mallilankaraman, Karthik;
Sang-Ha Baik;
Lim, James C.;
Balaganapathy, Priyanka;
She, David T.;
Lok, Ker-Zhing;
Fann, David Y.;
Thambiayah, Uma;
Sung-Chun Tang;
Stranahan, Alexis M.;
Dheen, S. Thameem;
Gelderblom, Mathias;
Seet, Raymond C.;
Karamyan, Vardan T.;
Vemuganti, Raghu;
Sobey, Christopher G.;
Mattson, Mark P.;
Dong-Gyu Jo

Publication type:

Article

Alpha-synuclein inhibits Snx3-retromer-mediated retrograde recycling of iron transporters in S. cerevisiae and C. elegans models of Parkinson's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1514, doi. 10.1093/hmg/ddy059

By:

Patel, Dhaval;
Chuan Xu;
Nagarajan, Sureshbabu;
Zhengchang Liu;
Hemphill, Wayne O.;
Shi, Runhua;
Uversky, Vladimir N.;
Caldwell, Guy A.;
Caldwell, Kim A.;
Witt, Stephan N.

Publication type:

Article