Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 24

Results: 10

Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich's ataxia model mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3954, doi. 10.1093/hmg/ddaa282

By:

Hui, Chun Kiu;
Dedkova, Elena N;
Montgomery, Claire;
Cortopassi, Gino

Publication type:

Article

Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3900, doi. 10.1093/hmg/ddaa279

By:

Pattamatta, Amrutha;
Nguyen, Lien;
Olafson, Hailey R;
Scotti, Marina M;
Laboissonniere, Lauren A;
Richardson, Jared;
Berglund, J Andrew;
Zu, Tao;
Wang, Eric T;
Ranum, Laura P W

Publication type:

Article

Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3919, doi. 10.1093/hmg/ddaa278

By:

Dridi, Haikel;
Wu, Wei;
Reiken, Steven R;
Ofer, Rachel M;
Liu, Yang;
Yuan, Qi;
Sittenfeld, Leah;
Kushner, Jared;
Muchir, Antoine;
Worman, Howard J;
Marks, Andrew R

Publication type:

Article

SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3882, doi. 10.1093/hmg/ddaa276

By:

Luo, Shiyu;
Li, Qifei;
Lin, Jasmine;
Murphy, Quinn;
Marty, Isabelle;
Zhang, Yuanfan;
Kazerounian, Shideh;
Agrawal, Pankaj B

Publication type:

Article

Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3935, doi. 10.1093/hmg/ddaa275

By:

Bora, Gamze;
Hensel, Niko;
Rademacher, Sebastian;
Koyunoğlu, Dila;
Sunguroğlu, Merve;
Aksu-Mengeş, Evrim;
Balcı-Hayta, Burcu;
Claus, Peter;
Erdem-Yurter, Hayat

Publication type:

Article

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3892, doi. 10.1093/hmg/ddaa270

By:

Sá, Maria J Nabais;
Olson, Alexandra N;
Yoon, Grace;
Nimmo, Graeme A M;
Gomez, Christopher M;
Willemsen, Michèl A;
Millan, Francisca;
Schneider, Alexandra;
Pfundt, Rolph;
Brouwer, Arjan P M de;
Dinman, Jonathan D;
Vries, Bert B A de

Publication type:

Article

Separating the genetics of childhood and adult obesity: a validation study of genetic scores for body mass index in adolescence and adulthood in the HUNT Study.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3966, doi. 10.1093/hmg/ddaa256

By:

Brandkvist, Maria;
Bjørngaard, Johan Håkon;
Ødegård, Rønnaug Astri;
Åsvold, Bjørn Olav;
Smith, George Davey;
Brumpton, Ben;
Hveem, Kristian;
Richardson, Tom G;
Vie, Gunnhild Åberge

Publication type:

Article

Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3872, doi. 10.1093/hmg/ddaa251

By:

Correll-Tash, Sarah;
Lilley, Brenna;
IV, Harold Salmons;
Mlynarski, Elisabeth;
Franconi, Colleen P;
McNamara, Meghan;
Woodbury, Carson;
Easley, Charles A;
Emanuel, Beverly S

Publication type:

Article

Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3945, doi. 10.1093/hmg/ddaa248

By:

Weiss, Lan;
Jung, Kwang-Mook;
Nalbandian, Angele;
Llewellyn, Katrina;
Yu, Howard;
Ta, Lac;
Chang, Isabela;
Migliore, Marco;
Squire, Erica;
Ahmed, Faizy;
Piomelli, Daniele;
Kimonis, Virginia

Publication type:

Article

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3859, doi. 10.1093/hmg/ddaa220

By:

Santos-Gómez, Ana;
Miguez-Cabello, Federico;
García-Recio, Adrián;
Locubiche-Serra, Sílvia;
García-Díaz, Roberto;
Soto-Insuga, Víctor;
Guerrero-López, Rosa;
Juliá-Palacios, Natalia;
Ciruela, Francisco;
García-Cazorla, Àngels;
Soto, David;
Olivella, Mireia;
Altafaj, Xavier

Publication type:

Article