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