Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sophia C. Gjervan"'
Autor:
Sophia C. Gjervan, Oguz K. Ozgoren, Alexander Gow, Sylvia Stockler-Ipsiroglu, Mahmoud A. Pouladi
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2024)
Claudin-11 plays a critical role in multiple physiological processes, including myelination, auditory function, and spermatogenesis. Recently, stop-loss mutations in CLDN11 have been identified as a novel cause of hypomyelinating leukodystrophy (HLD2
Externí odkaz:
https://doaj.org/article/b88163233b3043c19cee6955a98afe74
Autor:
Oguz K. Ozgoren, Glen Lester Sequiera, Costanza Ferrari Bardile, Sophia C. Gjervan, Areesha Salman, Anna Lehman, Stuart E. Turvey, Colin J.D. Ross, Sylvia Stockler, Mahmoud A. Pouladi
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103174- (2023)
Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mut
Externí odkaz:
https://doaj.org/article/da28363744664b88907f8eb810119337