Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 17

Results: 13

Mutant huntingtin does not cross the mitochondrial outer membrane.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2962, doi. 10.1093/hmg/ddaa185

By:

Hamilton, James;
Brustovetsky, Tatiana;
Khanna, Rajesh;
Brustovetsky, Nickolay

Publication type:

Article

Integrative genomics approach identifies conserved transcriptomic networks in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2899, doi. 10.1093/hmg/ddaa182

By:

Morabito, Samuel;
Miyoshi, Emily;
Michael, Neethu;
Swarup, Vivek

Publication type:

Article

Astrocyte DISC1 contributes to cognitive function in a brain region-dependent manner.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2936, doi. 10.1093/hmg/ddaa180

By:

Shevelkin, Alexey V;
Terrillion, Chantelle E;
Hasegawa, Yuto;
Mychko, Olga A;
Jouroukhin, Yan;
Sawa, Akira;
Kamiya, Atsushi;
Pletnikov, Mikhail V

Publication type:

Article

Gene therapy for Alzheimer's disease targeting CD33 reduces amyloid beta accumulation and neuroinflammation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2920, doi. 10.1093/hmg/ddaa179

By:

Griciuc, Ana;
Federico, Anthony N;
Natasan, Jeyashree;
Forte, Angela M;
McGinty, Danielle;
Nguyen, Huong;
Volak, Adrienn;
LeRoy, Stanley;
Gandhi, Sheetal;
Lerner, Eli P;
Hudry, Eloise;
Tanzi, Rudolph E;
Maguire, Casey A

Publication type:

Article

Prkar1a haploinsufficiency ameliorates the growth hormone excess phenotype in Aip-deficient mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2951, doi. 10.1093/hmg/ddaa178

By:

Schernthaner-Reiter, Marie Helene;
Trivellin, Giampaolo;
Roetzer, Thomas;
Hainfellner, Johannes A;
Starost, Matthew F;
Stratakis, Constantine A

Publication type:

Article

Discoidin Domain Receptor 1 is a therapeutic target for neurodegenerative diseases.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2882, doi. 10.1093/hmg/ddaa177

By:

Fowler, Alan J;
Hebron, Michaeline;
Balaraman, Kaluvu;
Shi, Wangke;
Missner, Alexander A;
Greenzaid, Jonathan D;
Chiu, Timothy L;
Ullman, Clementina;
Weatherdon, Ethan;
Duka, Val;
Torres-Yaghi, Yasar;
Pagan, Fernando L;
Liu, Xiaoguang;
Ressom, Habtom;
Ahn, Jaeil;
Wolf, Christian;
Moussa, Charbel

Publication type:

Article

DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2845, doi. 10.1093/hmg/ddaa176

By:

Rumyantseva, Anastasia;
Motori, Elisa;
Trifunovic, Aleksandra

Publication type:

Article

Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2872, doi. 10.1093/hmg/ddaa174

By:

Gubb, Samuel J A;
Brcic, Lucija;
Underwood, Jack F G;
Kendall, Kimberley M;
Caseras, Xavier;
Kirov, George;
Davies, William

Publication type:

Article

DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2855, doi. 10.1093/hmg/ddaa173

By:

Reid, Andrea L;
Wang, Yimin;
Samani, Adrienne;
Hightower, Rylie M;
Lopez, Michael A;
Gilbert, Shawn R;
Ianov, Lara;
Crossman, David K;
Dell'Italia, Louis J;
Millay, Douglas P;
Groen, Thomas van;
Halade, Ganesh V;
Alexander, Matthew S

Publication type:

Article

A Drosophila model of Friedreich ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2831, doi. 10.1093/hmg/ddaa170

By:

Russi, Maria;
Martin, Elodie;
D'Autréaux, Benoit;
Tixier, Laura;
Tricoire, Hervé;
Monnier, Véronique

Publication type:

Article

Erbb4 regulates the oocyte microenvironment during folliculogenesis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2813, doi. 10.1093/hmg/ddaa161

By:

Veikkolainen, Ville;
Ali, Nsrein;
Doroszko, Milena;
Kiviniemi, Antti;
Miinalainen, Ilkka;
Ohlsson, Claes;
Poutanen, Matti;
Rahman, Nafis;
Elenius, Klaus;
Vainio, Seppo J;
Naillat, Florence

Publication type:

Article

Multiplex melanoma families are enriched for polygenic risk.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2976, doi. 10.1093/hmg/ddaa156

By:

Law, Matthew H;
Aoude, Lauren G;
Duffy, David L;
Long, Georgina V;
Johansson, Peter A;
Pritchard, Antonia L;
Khosrotehrani, Kiarash;
Mann, Graham J;
Montgomery, Grant W;
Iles, Mark M;
Cust, Anne E;
Palmer, Jane M;
Consortium, Melanoma GWAS;
Shannon, Kerwin F;
Spillane, Andrew J;
Stretch, Jonathan R;
Thompson, John F;
Saw, Robyn P M;
Scolyer, Richard A;
Martin, Nicholas G

Publication type:

Article

Corrigendum to: ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 17, p. 2986, doi. 10.1093/hmg/ddaa090

By:

Holdener, Bernadette C;
Percival, Christopher J;
Grady, Richard C;
Cameron, Daniel C;
Berardinelli, Steven J;
Zhang, Ao;
Neupane, Sanjiv;
Takeuchi, Megumi;
Jimenez-Vega, Javier C;
Uddin, Sardar M Z;
Komatsu, David E;
Honkanen, Robert;
Dubail, Johanne;
Apte, Suneel S;
Sato, Takashi;
Narimatsu, Hisashi;
McClain, Steve A;
Haltiwanger, Robert S

Publication type:

Article