Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 8

Results: 14

Bone morphogenetic protein 1 cleaves the linker region between ligand-binding repeats 4 and 5 of the LDL receptor and makes the LDL receptor non-functional.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1229, doi. 10.1093/hmg/ddz238

By:

Strøm, Thea Bismo;
Bjune, Katrine;
Leren, Trond P

Publication type:

Article

Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1365, doi. 10.1093/hmg/ddaa068

By:

Klofas, Lindsay K;
Short, Brittany P;
Zhou, Chengwen;
Carson, Robert P

Publication type:

Article

Impaired mitochondrial–endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1353, doi. 10.1093/hmg/ddaa066

By:

Berenguer-Escuder, Clara;
Grossmann, Dajana;
Antony, Paul;
Arena, Giuseppe;
Wasner, Kobi;
Massart, François;
Jarazo, Javier;
Walter, Jonas;
Schwamborn, Jens C;
Grünewald, Anne;
Krüger, Rejko

Publication type:

Article

Nemo-like kinase reduces mutant huntingtin levels and mitigates Huntington's disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1340, doi. 10.1093/hmg/ddaa061

By:

Jiang, Mali;
Zhang, Xiaoyan;
Liu, Hongshuai;
LeBron, Jared;
Alexandris, Athanasios;
Peng, Qi;
Gu, Hao;
Yang, Fanghan;
Li, Yuchen;
Wang, Ruiling;
Hou, Zhipeng;
Arbez, Nicolas;
Ren, Qianwei;
Dong, Jen-Li;
Whela, Emma;
Wang, Ronald;
Ratovitski, Tamara;
Troncoso, Juan C;
Mori, Susumu;
Ross, Christopher A

Publication type:

Article

Protein–protein interaction network with machine learning models and multiomics data reveal potential neurodegenerative disease-related proteins.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1378, doi. 10.1093/hmg/ddaa065

By:

Yu, Xinjian;
Lai, Siqi;
Chen, Hongjun;
Chen, Ming

Publication type:

Article

Oligodendrocyte dysfunction due to Chd8 mutation gives rise to behavioral deficits in mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1274, doi. 10.1093/hmg/ddaa036

By:

Kawamura, Atsuki;
Katayama, Yuta;
Nishiyama, Masaaki;
Shoji, Hirotaka;
Tokuoka, Kota;
Ueta, Yoshifumi;
Miyata, Mariko;
Isa, Tadashi;
Miyakawa, Tsuyoshi;
Hayashi-Takagi, Akiko;
Nakayama, Keiichi I

Publication type:

Article

A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1396, doi. 10.1093/hmg/ddaa058

By:

Meng, Weihua;
Chan, Brian W;
Harris, Cameron;
Freidin, Maxim B;
Hebert, Harry L;
Adams, Mark J;
Campbell, Archie;
Hayward, Caroline;
Zheng, Hua;
Zhang, Xianwei;
Colvin, Lesley A;
Hales, Tim G;
Palmer, Colin N A;
Williams, Frances M K;
McIntosh, Andrew;
Smith, Blair H

Publication type:

Article

Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1319, doi. 10.1093/hmg/ddaa047

By:

Barca, Juan Manuel Chao de la;
Fogazza, Mario;
Rugolo, Michela;
Chupin, Stéphanie;
Dotto, Valentina Del;
Ghelli, Anna Maria;
Carelli, Valerio;
Simard, Gilles;
Procaccio, Vincent;
Bonneau, Dominique;
Lenaers, Guy;
Reynier, Pascal;
Zanna, Claudia

Publication type:

Article

Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1292, doi. 10.1093/hmg/ddaa043

By:

Butler, Thomas J;
Estep, Katrina N;
Sommers, Joshua A;
Maul, Robert W;
Moore, Ann Zenobia;
Bandinelli, Stefania;
Cucca, Francesco;
Tuke, Marcus A;
Wood, Andrew R;
Bharti, Sanjay Kumar;
Bogenhagen, Daniel F;
Yakubovskaya, Elena;
Garcia-Diaz, Miguel;
Guilliam, Thomas A;
Byrd, Alicia K;
Raney, Kevin D;
Doherty, Aidan J;
Ferrucci, Luigi;
Schlessinger, David;
Ding, Jun

Publication type:

Article

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1330, doi. 10.1093/hmg/ddaa056

By:

Eckhardt, Jan;
Bachmann, Christoph;
Benucci, Sofia;
Elbaz, Moran;
Ruiz, Alexis;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

Polygenic risk scores for coronary artery disease and subsequent event risk amongst established cases.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1388, doi. 10.1093/hmg/ddaa052

By:

Howe, Laurence J;
Dudbridge, Frank;
Schmidt, Amand F;
Finan, Chris;
Denaxas, Spiros;
Asselbergs, Folkert W;
Hingorani, Aroon D;
Patel, Riyaz S

Publication type:

Article

AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1310, doi. 10.1093/hmg/ddaa049

By:

Aguilà, Monica;
Bellingham, James;
Athanasiou, Dimitra;
Bevilacqua, Dalila;
Duran, Yanai;
Maswood, Ryea;
Parfitt, David A;
Iwawaki, Takao;
Spyrou, Giannis;
Smith, Alexander J;
Ali, Robin R;
Cheetham, Michael E

Publication type:

Article

TET2-mediated Cdkn2A DNA hydroxymethylation in midbrain dopaminergic neuron injury of Parkinson's disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1239, doi. 10.1093/hmg/ddaa022

By:

Wu, Ting-Ting;
Liu, Te;
Li, Xuan;
Chen, Ya-Jing;
Chen, Tian-Jiao;
Zhu, Xiao-Ying;
Chen, Jiu-Lin;
Li, Qing;
Liu, Ye;
Feng, Ya;
Wu, Yun-Cheng

Publication type:

Article

Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 8, p. 1253, doi. 10.1093/hmg/ddaa034

By:

Pereira, Jorge A;
Gerber, Joanne;
Ghidinelli, Monica;
Gerber, Daniel;
Tortola, Luigi;
Ommer, Andrea;
Bachofner, Sven;
Santarella, Francesco;
Tinelli, Elisa;
Lin, Shuo;
Rüegg, Markus A;
Kopf, Manfred;
Toyka, Klaus V;
Suter, Ueli

Publication type:

Article