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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.
Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.
Zatyka M, Rosenstock TR, Sun C, Palhegyi AM, Hughes GW, Lara-Reyna S, Astuti D, di Maio A, Sciauvaud A, Korsgen ME, Stanulovic V, Kocak G, Rak M, Pourtoy-Brasselet S, Winter K, Varga T, Jarrige M, Polvèche H, Correia J, Frickel EM, Hoogenkamp M, Ward DG, Aubry L, Barrett T, Sarkar S. Zatyka M, et al. Among authors: astuti d. Stem Cell Reports. 2023 May 9;18(5):1090-1106. doi: 10.1016/j.stemcr.2023.04.002. Stem Cell Reports. 2023. PMID: 37163979 Free PMC article.
NAD depletion mediates cytotoxicity in human neurons with autophagy deficiency.
Sun C, Seranova E, Cohen MA, Chipara M, Roberts J, Astuti D, Palhegyi AM, Acharjee A, Sedlackova L, Kataura T, Otten EG, Panda PK, Lara-Reyna S, Korsgen ME, Kauffman KJ, Huerta-Uribe A, Zatyka M, Silva LFSE, Torresi J, Zhang S, Hughes GW, Ward C, Kuechler ER, Cartwright D, Trushin S, Trushina E, Sahay G, Buganim Y, Lavery GG, Gsponer J, Anderson DG, Frickel EM, Rosenstock TR, Barrett T, Maddocks ODK, Tennant DA, Wang H, Jaenisch R, Korolchuk VI, Sarkar S. Sun C, et al. Among authors: astuti d. Cell Rep. 2023 May 30;42(5):112372. doi: 10.1016/j.celrep.2023.112372. Epub 2023 Apr 21. Cell Rep. 2023. PMID: 37086404 Free PMC article.
63 results