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Neuroscience Bulletin · 2025 · Vol. 41 · Issue 4 · Springer
Accurate timing of myelination is crucial for the proper functioning of the central nervous system. Here, we identified a de novo heterozygous mutation in TMEM63A (c.1894G>A; p. Ala632Thr) in a 7-year-old boy exhibiting hypomyelination. A Ca 2+ influx assay suggested that this is a loss-of-function mutation. To explore how TMEM63A deficiency causes hypomyelination, we generated Tmem63a knockout mice. Genetic deletion of TMEM63...
Science Bulletin · 2025 · Vol. 70 · Issue 4 · Elsevier
M. Ablikim; M.N. Achasov; P. Adlarson; O. Afedulidis; X.C. Ai; R. Aliberti; A. Amoroso; Q. An; Y. Bai; O. Bakina; I. Balossino; Y. Ban; H.-R. Bao; V. Batozskaya; K. Begzsuren; N. Berger; M. Berlowski; M. Bertani; D. Bettoni; F. Bianchi; E. Bianco; A. Bortone; I. Boyko; R.A. Briere; A. Brueggemann; H. Cai; X. Cai; A. Calcaterra; G.F. Cao; N. Cao; S.A. Cetin; J.F. Chang; G.R. Che; G. Chelkov; C. Chen; C.H. Chen; Chao Chen; G. Chen; H.S. Chen; H.Y. Chen; M.L. Chen; S.J. Chen; S.L. Chen; S.M. Chen; T. Chen; X.R. Chen; X.T. Chen; Y.B. Chen; Y.Q. Chen; Z.J. Chen; Z.Y. Chen; S.K. Choi; G. Cibinetto; F. Cossio; J.J. Cui; H.L. Dai; J.P. Dai; A. Dbeyssi; R.E. de Boer; D. Dedovich; C.Q. Deng; Z.Y. Deng; A. Denig; I. Denysenko; M. Destefanis; F. De Mori; B. Ding; X.X. Ding; Y. Ding; Y. Ding; J. Dong; L.Y. Dong; M.Y. Dong; X. Dong; M.C. Du; S.X. Du; Y.Y. Duan; Z.H. Duan; P. Egorov; Y.H. Fan; J. Fang; J. Fang; S.S. Fang; W.X. Fang; Y. Fang; Y.Q. Fang; R. Farinelli; L. Fava; F. Feldbauer; G. Felici; C.Q. Feng; J.H. Feng; Y.T. Feng; M. Fritsch; C.D. Fu; J.L. Fu; Y.W. Fu; H. Gao; X.B. Gao; Y.N. Gao; Yang Gao; S. Garbolino; I. Garzia; L. Ge; P.T. Ge; Z.W. Ge; C. Geng; E.M. Gersabeck; A. Gilman; K. Goetzen; L. Gong; W.X. Gong; W. Gradl; S. Gramigna; M. Greco; M.H. Gu; Y.T. Gu; C.Y. Guan; A.Q. Guo; L.B. Guo; M.J. Guo; R.P. Guo; Y.P. Guo; A. Guskov; J. Gutierrez; K.L. Han; T.T. Han; F. Hanisch; X.Q. Hao; F.A. Harris; K.K. He; K.L. He; F.H. Heinsius; C.H. Heinz; Y.K. Heng; C. Herold; T. Holtmann; P.C. Hong; G.Y. Hou; X.T. Hou; Y.R. Hou; Z.L. Hou; B.Y. Hu; H.M. Hu; J.F. Hu; S.L. Hu; T. Hu; Y. Hu; G.S. Huang; K.X. Huang; L.Q. Huang; X.T. Huang; Y.P. Huang; Y.S. Huang; T. Hussain; F. Hölzken; N. Hüsken; N. in der Wiesche; J. Jackson; S. Janchiv; J.H. Jeong; Q. Ji; Q.P. Ji; W. Ji; X.B. Ji; X.L. Ji; Y.Y. Ji; X.Q. Jia; Z.K. Jia; D. Jiang; H.B. Jiang; P.C. Jiang; S.S. Jiang; T.J. Jiang; X.S. Jiang; Y. Jiang; J.B. Jiao; J.K. Jiao; Z. Jiao; S. Jin; Y. Jin; M.Q. Jing; X.M. Jing; T. 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