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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Camarena V, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer SS, Kennerson M, Lee YC, Foskett JK, Shy ME, Zuchner S. Beijer D, et al. Among authors: weissenrieder js. Brain. 2025 Jan 7;148(1):227-237. doi: 10.1093/brain/awae206. Brain. 2025. PMID: 38938188
The mitochondrial Ca 2+ channel MCU is critical for tumor growth by supporting cell cycle progression and proliferation.
García EF, Paudel U, Noji MC, Bowman CE, Pitarresi JR, Rustgi AK, Wellen KE, Arany Z, Weissenrieder JS, Foskett JK. García EF, et al. Among authors: weissenrieder js. bioRxiv [Preprint]. 2023 Apr 28:2023.04.26.538295. doi: 10.1101/2023.04.26.538295. bioRxiv. 2023. Update in: Front Cell Dev Biol. 2023 Jun 08;11:1082213. doi: 10.3389/fcell.2023.1082213. PMID: 37163088 Free PMC article. Updated. Preprint.
The mitochondrial Ca2+ channel MCU is critical for tumor growth by supporting cell cycle progression and proliferation.
Fernandez Garcia E, Paudel U, Noji MC, Bowman CE, Rustgi AK, Pitarresi JR, Wellen KE, Arany Z, Weissenrieder JS, Foskett JK. Fernandez Garcia E, et al. Among authors: weissenrieder js. Front Cell Dev Biol. 2023 Jun 8;11:1082213. doi: 10.3389/fcell.2023.1082213. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37363724 Free PMC article.
13 results