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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: friedman tb. Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007. Online ahead of print. Am J Hum Genet. 2024. PMID: 39701103 Free article.
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: friedman tb. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. Update in: Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007 PMID: 39371131 Free PMC article. Updated. Preprint.
Live-cell single-molecule fluorescence microscopy for protruding organelles reveals regulatory mechanisms of MYO7A-driven cargo transport in stereocilia of inner ear hair cells.
Miyoshi T, Vishwasrao HD, Belyantseva IA, Sajeevadathan M, Ishibashi Y, Adadey SM, Harada N, Shroff H, Friedman TB. Miyoshi T, et al. Among authors: friedman tb. bioRxiv [Preprint]. 2024 May 7:2024.05.04.590649. doi: 10.1101/2024.05.04.590649. bioRxiv. 2024. PMID: 38766013 Free PMC article. Preprint.
Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B.
Lau SC, Grati M, Isgrig K, Sinan M, Calabro KR, Zhu J, Ishibashi Y, Ozgur Z, Wafa T, Belyantseva IA, Fitzgerald T, Friedman TB, Boye SL, Boye SE, Chien WW. Lau SC, et al. Among authors: friedman tb. Mol Ther Methods Clin Dev. 2023 Aug 21;30:534-545. doi: 10.1016/j.omtm.2023.08.012. eCollection 2023 Sep 14. Mol Ther Methods Clin Dev. 2023. PMID: 37693946 Free PMC article.
234 results