Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Omar A.Z. Tutakhel"'
Autor:
Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter, Saskia Hoogstraten, Lisanne H.T. Wezendonk, Omar A.Z. Tutakhel, Liesbeth T. Wintjes, Bert van den Heuvel, Peter H.G.M. Willems, Erik-Jan Kamsteeg, M. Estela Rubio Gozalbo, Suzanne C.E.H. Sallevelt, Suzanne M. Koudijs, Joost Nicolai, Charlotte I. de Bie, Jessica E. Hoogendijk, Werner J.H. Koopman, Richard J. Rodenburg
Ionic calcium (Ca2+) is a key messenger in signal transduction and its mitochondrial uptake plays an important role in cell physiology. This uptake is mediated by the mitochondrial Ca2+uniporter (MCU), which is regulated by EMRE (essential MCU regula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf84aee657bd169254b5a731093db3fd
https://doi.org/10.1101/2022.10.31.514480
https://doi.org/10.1101/2022.10.31.514480
Autor:
Frans van den Brandt, Maina P. Kava, Silja Svanstrøm Amundsen, Mariël A.M. van den Brand, David R. Thorburn, Trine Tangeraas, Mari Ann Kulseth, Liesbeth T. Wintjes, Yngve Thomas Bliksrud, Marion Ybema‐Antoine, Shanti Balasubramaniam, Lawrence Greed, Oksana Lapina, Richard J. Rodenburg, Omar A.Z. Tutakhel, Terje R. Selberg
Publikováno v:
Human Mutation
Human Mutation, 42, 135-141
Human Mutation, 42, 2, pp. 135-141
Human Mutation, 42, 135-141
Human Mutation, 42, 2, pp. 135-141
COX16 is involved in the biogenesis of cytochrome‐c‐oxidase (complex IV), the terminal complex of the mitochondrial respiratory chain. We present the first report of two unrelated patients with the homozygous nonsense variant c.244C>T(p. Arg82*)