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Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Schob C, Hempel M, Safka Brozkova D, Jiang H, Kim SY, Batzir NA, Orenstein N, Bierhals T, Johannsen J, Uhrova Meszarosova A, Chae JH, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J. Schob C, et al. Ann Neurol. 2021 Nov;90(5):738-750. doi: 10.1002/ana.26228. Epub 2021 Oct 14. Ann Neurol. 2021. PMID: 34564892
ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs.
Zolotarov Y, Ma C, González-Recio I, Hardy S, Franken GAC, Uetani N, Latta F, Kostantin E, Boulais J, Thibault MP, Côté JF, Díaz-Moreno I, Quintana AD, Hoenderop JGJ, Martínez-Cruz LA, Tremblay ML, de Baaij JHF. Zolotarov Y, et al. Cell Mol Life Sci. 2021 Jul;78(13):5427-5445. doi: 10.1007/s00018-021-03832-8. Epub 2021 Jun 5. Cell Mol Life Sci. 2021. PMID: 34089346 Free PMC article.
Most importantly, we found that ARL15 is required for forming complex N-glycosylation of CNNMs. Overexpression of ARL15 promotes complex N-glycosylation of CNNM3. ...Altogether, our results establish ARL15 as a novel negative regulator of Mg(2+) transport by promoti …
Most importantly, we found that ARL15 is required for forming complex N-glycosylation of CNNMs. Overexpression of ARL15 promotes comp …