Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 8

Results: 8

Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 629, doi. 10.1093/hmg/ddab065

By:

Lopez-Manzaneda, Mario;
Franco-Espin, Julio;
Tejero, Rocio;
Cano, Raquel;
Tabares, Lucia

Publication type:

Article

Salvage NAD<sup>+</sup> biosynthetic pathway enzymes moonlight as molecular chaperones to protect against proteotoxicity.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 672, doi. 10.1093/hmg/ddab080

By:

Pinkerton, Meredith;
Ruetenik, Andrea;
Bazylianska, Viktoriia;
Nyvltova, Eva;
Barrientos, Antoni

Publication type:

Article

Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 687, doi. 10.1093/hmg/ddab078

By:

Straub, Isabella R;
Weraarpachai, Woranontee;
Shoubridge, Eric A

Publication type:

Article

Mutant Nmnat1 leads to a retina-specific decrease of NAD<sup>+</sup> accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 644, doi. 10.1093/hmg/ddab070

By:

Greenwald, Scott H;
Brown, Emily E;
Scandura, Michael J;
Hennessey, Erin;
Farmer, Raymond;
Du, Jianhai;
Wang, Yekai;
Pierce, Eric A

Publication type:

Article

Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 706, doi. 10.1093/hmg/ddab074

By:

Suart, Celeste E.;
Perez, Alma M.;
Al-Ramahi, Ismael;
Maiuri, Tamara;
Botas, Juan;
Truant, Ray

Publication type:

Article

Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 716, doi. 10.1093/hmg/ddab044

By:

Imamura, Minako;
Takahashi, Atsushi;
Matsunami, Masatoshi;
Horikoshi, Momoko;
Iwata, Minoru;
Araki, Shin-ichi;
Toyoda, Masao;
Susarla, Gayatri;
Ahn, Jeeyun;
Park, Kyu Hyung;
Kong, Jinhwa;
Moon, Sanghoon;
Sobrin, Lucia;
(iDRAGON), International Diabetic Retinopathy and Genetics CONsortium;
Yamauchi, Toshimasa;
Tobe, Kazuyuki;
Maegawa, Hiroshi;
Kadowaki, Takashi;
Maeda, Shiro

Publication type:

Article

Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 658, doi. 10.1093/hmg/ddab075

By:

Shinde, Vishal;
Sobreira, Nara;
Wohler, Elizabeth S;
Maiti, George;
Hu, Nan;
Silvestri, Giuliana;
George, Sonia;
Jackson, Jonathan;
Chakravarti, Aravinda;
Willoughby, Colin E;
Chakravarti, Shukti

Publication type:

Article

Imputed gene expression risk scores: a functionally informed component of polygenic risk.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 727, doi. 10.1093/hmg/ddab053

By:

Pain, Oliver;
Glanville, Kylie P;
Hagenaars, Saskia;
Selzam, Saskia;
Fürtjes, Anna;
Coleman, Jonathan R I;
Rimfeld, Kaili;
Breen, Gerome;
Folkersen, Lasse;
Lewis, Cathryn M

Publication type:

Article