Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 24

Results: 9

Correction to: "Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors".

Published in:: Human Molecular Genetics, 2023, v. 32, n. 24, p. 3391, doi. 10.1093/hmg/ddad169
Publication type:: Article

Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 24, p. 3374, doi. 10.1093/hmg/ddad164

By:

Cocchiararo, Ilaria;
Cattaneo, Olivia;
Rajendran, Jayasimman;
Chabry, Florent;
Cornut, Mélanie;
Soldati, Hadrien;
Bigot, Anne;
Mamchaoui, Kamel;
Gibertini, Sara;
Bouche, Axelle;
Ham, Daniel J;
Laumonier, Thomas;
Prola, Alexandre;
Castets, Perrine

Publication type:

Article

A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 24, p. 3342, doi. 10.1093/hmg/ddad155

By:

Wilson, Anna F;
Barakat, Rasha;
Mu, Rui;
Karush, Leah L;
Gao, Yunqing;
Hartigan, Kelly A;
Chen, Ji-Kang;
Shu, Hongjin;
Turner, Tychele N;
Maloney, Susan E;
Mennerick, Steven J;
Gutmann, David H;
Anastasaki, Corina

Publication type:

Article

Cardiolipin deficiency leads to the destabilization of mitochondrial magnesium channel MRS2 in Barth syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 24, p. 3353, doi. 10.1093/hmg/ddad153

By:

Joshi, Alaumy;
Gohil, Vishal M

Publication type:

Article

Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 24, p. 3323, doi. 10.1093/hmg/ddad146

By:

Dookwah, Michelle;
Wagner, Shannon K;
Ishihara, Mayumi;
Yu, Seok-Ho;
Ulrichs, Heidi;
Kulik, Michael J;
Zeltner, Nadja;
Dalton, Stephen;
Strauss, Kevin A;
Aoki, Kazuhiro;
Steet, Richard;
Tiemeyer, Michael

Publication type:

Article

Correction to: Myofibrillar myopathy hallmarks associated with ZAK deficiency.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 24, p. 3390, doi. 10.1093/hmg/ddad168
Publication type:: Article

Polyglutamine disease in peripheral tissues.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 24, p. 3303, doi. 10.1093/hmg/ddad138

By:

Barwell, Taylor;
Seroude, Laurent

Publication type:

Article

Divergent phenotypes in constitutive versus conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 24, p. 3361, doi. 10.1093/hmg/ddad157

By:

Larrigan, Sarah;
Joshi, Shrilaxmi V;
Mattar, Pierre

Publication type:

Article

Hippocampal and peripheral blood DNA methylation signatures correlate at the gene and pathway level in a mouse model of autism.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 24, p. 3312, doi. 10.1093/hmg/ddad137

By:

Alberca, Carolina D;
Papale, Ligia A;
Madrid, Andy;
Alisch, Reid S

Publication type:

Article