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NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CD, et al. Among authors: renkema h. Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Nat Genet. 2016. PMID: 27213289 Free article.
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CDM, et al. Among authors: renkema h. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. Nat Genet. 2017. PMID: 28546570 No abstract available.
Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons.
Klein Gunnewiek TM, Verboven AHA, Pelgrim I, Hogeweg M, Schoenmaker C, Renkema H, Beyrath J, Smeitink J, de Vries BBA, Hoen PAC', Kozicz T, Nadif Kasri N. Klein Gunnewiek TM, et al. Among authors: renkema h. Stem Cell Reports. 2021 Sep 14;16(9):2197-2212. doi: 10.1016/j.stemcr.2021.07.002. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329596 Free PMC article.
A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms ("KHENERGYC").
Smeitink J, van Maanen R, de Boer L, Ruiterkamp G, Renkema H. Smeitink J, et al. Among authors: renkema h. BMC Neurol. 2022 Apr 27;22(1):158. doi: 10.1186/s12883-022-02685-3. BMC Neurol. 2022. PMID: 35477351 Free PMC article. Clinical Trial.
The Redox Modulating Sonlicromanol Active Metabolite KH176m and the Antioxidant MPG Protect Against Short-Duration Cardiac Ischemia-Reperfusion Injury.
Xiao Y, Yim K, Zhang H, Bakker D, Nederlof R, Smeitink JAM, Renkema H, Hollmann MW, Weber NC, Zuurbier CJ. Xiao Y, et al. Among authors: renkema h. Cardiovasc Drugs Ther. 2021 Aug;35(4):745-758. doi: 10.1007/s10557-021-07189-9. Epub 2021 Apr 29. Cardiovasc Drugs Ther. 2021. PMID: 33914182 Free PMC article.
13 results