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Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajan P, Green JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poché RA. Chern T, et al. Among authors: chaudhury a. Nat Commun. 2022 Jan 10;13(1):134. doi: 10.1038/s41467-021-27759-7. Nat Commun. 2022. PMID: 35013307 Free PMC article.
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY. Gennarino VA, et al. Among authors: chaudhury a. Elife. 2015 Aug 27;4:e10782. doi: 10.7554/eLife.10782. Elife. 2015. PMID: 26312503 Free PMC article.
Telomere Dysfunction Induces Sirtuin Repression that Drives Telomere-Dependent Disease.
Amano H, Chaudhury A, Rodriguez-Aguayo C, Lu L, Akhanov V, Catic A, Popov YV, Verdin E, Johnson H, Stossi F, Sinclair DA, Nakamaru-Ogiso E, Lopez-Berestein G, Chang JT, Neilson JR, Meeker A, Finegold M, Baur JA, Sahin E. Amano H, et al. Among authors: chaudhury a. Cell Metab. 2019 Jun 4;29(6):1274-1290.e9. doi: 10.1016/j.cmet.2019.03.001. Epub 2019 Mar 28. Cell Metab. 2019. PMID: 30930169 Free PMC article.
305 results