Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 19

Results: 12

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3266, doi. 10.1093/hmg/ddaa202
By:
- Al-Shekaili, Hilal H.;
- Petkau, Terri L.;
- Pena, Izabella;
- Lengyell, Tess C.;
- Verhoeven-Duif, Nanda M.;
- Ciapaite, Jolita;
- Bosma, Marjolein;
- van Faassen, Martijn;
- Kema, Ido P.;
- Horvath, Gabriella;
- Ross, Colin;
- Simpson, Elizabeth M.;
- Friedman, Jan M.;
- van Karnebeek, Clara;
- Leavitt, Blair R.
Publication type:
Article
Dystroglycan regulates proper expression, submembranous localization and subsequent phosphorylation of Dp71 through physical interaction.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3312, doi. 10.1093/hmg/ddaa217
By:
- Takahiro Fujimoto;
- Takeshi Yaoi;
- Hidekazu Tanaka;
- Kyoko Itoh
Publication type:
Article
Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3338, doi. 10.1093/hmg/ddaa190
By:
- Athanasiou, Dimitra;
- Bevilacqua, Dalila;
- Aguila, Monica;
- McCulley, Caroline;
- Kanuga, Naheed;
- Takao Iwawaki;
- Chapple, J. Paul;
- Cheetham, Michael E.
Publication type:
Article
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3285, doi. 10.1093/hmg/ddaa210
By:
- Langouët, Maéva;
- Gorka, Dea;
- Orniacki, Clarisse;
- Dupont-Thibert, Clémence M.;
- Chung, Michael S.;
- Glatt-Deeley, Heather R.;
- Germain, Noelle;
- Crandall, Leann J.;
- Cotney, Justin L.;
- Stoddard, Christopher E.;
- Lalande, Marc;
- Chamberlain, Stormy J.
Publication type:
Article
Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3224, doi. 10.1093/hmg/ddaa209
By:
- Wenfei Liu;
- Orjona Taso;
- Rui Wang;
- Bayram, Sevinc;
- Graham, Andrew C.;
- Garcia-Reitboeck, Pablo;
- Mallach, Anna;
- Andrews, William D.;
- Piers, Thomas M.;
- Botia, Juan A.;
- Pocock, Jennifer M.;
- Cummings, Damian M.;
- Hardy, John;
- Edwards, Frances A.;
- Salih, Dervis A.
Publication type:
Article
Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3249, doi. 10.1093/hmg/ddaa212
By:
- Chopra, Ravi;
- Bushart, David D.;
- Cooper, John P.;
- Yellajoshyula, Dhananjay;
- Morrison, Logan M.;
- Huang, Haoran;
- Handler, Hillary P.;
- Man, Luke J.;
- Dansithong, Warunee;
- Scoles, Daniel R.;
- Pulst, Stefan M.;
- Orr, Harry T.;
- Shakkottai, Vikram G.
Publication type:
Article
Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3296, doi. 10.1093/hmg/ddaa214
By:
- González-García, Pilar;
- Hidalgo-Gutiérrez, Agustín;
- Mascaraque, Cristina;
- Barriocanal-Casado, Eliana;
- Bakkali, Mohammed;
- Ziosi, Marcello;
- Abdihankyzy, Ussipbek Botagoz;
- Sánchez-Hernández, Sabina;
- Escames, Germaine;
- Prokisch, Holger;
- Martín, Francisco;
- Quinzii, Catarina M.;
- López, Luis C.
Publication type:
Article
Regulation of telomeric function by DNA methylation differs between humans and mice.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3197, doi. 10.1093/hmg/ddaa206
By:
- Toubiana, Shir;
- Larom, Gal;
- Smoom, Riham;
- Duszynski, Robert J.;
- Godley, Lucy A.;
- Francastel, Claire;
- Velasco, Guillaume;
- Selig, Sara
Publication type:
Article
Brain ventricular enlargement in human and murine acute intermittent porphyria.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3211, doi. 10.1093/hmg/ddaa204
By:
- Jericó, Daniel;
- Luis, Elkin O.;
- Cussó, Lorena;
- Fernández-Seara, María A.;
- Morales, Xabier;
- Córdoba, Karol M.;
- Benito, Marina;
- Sampedro, Ana;
- Larriva, María;
- Ramírez, María J.;
- de Salamanca, Rafael Enríquez;
- Ortiz-de-Solorzano, Carlos;
- Alegre, Manuel;
- Prieto, Jesús;
- Lanciego, José Luis;
- D’Avola, Delia;
- González-Aseguinolaza, Gloria;
- Pastor, María A.;
- Desco, Manuel;
- Fontanellas, Antonio
Publication type:
Article
Genetic determinants of increased body mass index mediate the effect of smoking on increased risk for type 2 diabetes but not coronary artery disease.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3327, doi. 10.1093/hmg/ddaa193
By:
- Thom, Christopher S.;
- Zhuoran Ding;
- Levin, Michael G.;
- Damrauer, Scott M.;
- Kyung Min Lee;
- Lynch, Julie;
- Kyong-Mi Chang;
- Tsao, Philip S.;
- Cho, Kelly;
- Wilson, Peter W. F.;
- Assimes, Themistocles L.;
- Sun, Yan V.;
- O’Donnell, Christopher J.;
- Vujkovic, Marijana;
- Voight, Benjamin F.
Publication type:
Article
LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3183, doi. 10.1093/hmg/ddaa200
By:
- Christ, Annabel;
- Marczenke, Maike;
- Willnow, Thomas E
Publication type:
Article
Assembly of the [4Fe–4S] cluster of NFU1 requires the coordinated donation of two [2Fe–2S] clusters from the scaffold proteins, ISCU2 and ISCA1.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3165, doi. 10.1093/hmg/ddaa172
By:
- Jain, Anshika;
- Singh, Anamika;
- Maio, Nunziata;
- Rouault, Tracey A
Publication type:
Article