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Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates.
Boeynaems S, Dorone Y, Zhuang Y, Shabardina V, Huang G, Marian A, Kim G, Sanyal A, Şen NE, Griffith D, Docampo R, Lasker K, Ruiz-Trillo I, Auburger G, Holehouse AS, Kabashi E, Lin Y, Gitler AD. Boeynaems S, et al. Among authors: marian a. Mol Cell. 2023 Jun 15;83(12):2020-2034.e6. doi: 10.1016/j.molcel.2023.05.025. Epub 2023 Jun 8. Mol Cell. 2023. PMID: 37295429 Free PMC article.
Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects.
de Calbiac H, Renault S, Haouy G, Jung V, Roger K, Zhou Q, Campanari ML, Chentout L, Demy DL, Marian A, Goudin N, Edbauer D, Guerrera C, Ciura S, Kabashi E. de Calbiac H, et al. Among authors: marian a. Autophagy. 2024 Oct;20(10):2164-2185. doi: 10.1080/15548627.2024.2358736. Epub 2024 Sep 24. Autophagy. 2024. PMID: 39316747 Free PMC article.
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.
de Calbiac H, Montealegre S, Straube M, Renault S, Debruge H, Chentout L, Ciura S, Imbard A, Guillou EL, Marian A, Goudin N, Caccavelli L, Fabrega S, Hubas A, van Endert P, Dupont N, Diana J, Kabashi E, de Lonlay P. de Calbiac H, et al. Among authors: marian a. Autophagy Rep. 2024 Feb 1;3(1):27694127.2024.2306766. doi: 10.1080/27694127.2024.2306766. eCollection 2024 Dec 31. Autophagy Rep. 2024. PMID: 39722856 Free PMC article.
Aficamten and Cardiopulmonary Exercise Test Performance: A Substudy of the SEQUOIA-HCM Randomized Clinical Trial.
Lee MMY, Masri A, Nassif ME, Barriales-Villa R, Abraham TP, Claggett BL, Coats CJ, Gimeno JR, Kulac IJ, Landsteiner I, Ma C, Maron MS, Olivotto I, Owens AT, Solomon SD, Veselka J, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Lewis GD; SEQUOIA-HCM Investigators. Lee MMY, et al. JAMA Cardiol. 2024 Nov 1;9(11):990-1000. doi: 10.1001/jamacardio.2024.2781. JAMA Cardiol. 2024. PMID: 39230885 Free PMC article. Clinical Trial.
298 results