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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460.
Brain. 2023.
PMID: 36718090
Free PMC article.
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Mor-Shaked H, Rippert AL, Nomakuchi T, Izumi K, Kollman JM.
O'Neill AG, et al.
J Biol Chem. 2023 Aug;299(8):105012. doi: 10.1016/j.jbc.2023.105012. Epub 2023 Jul 4.
J Biol Chem. 2023.
PMID: 37414152
Free PMC article.
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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL, Kanaan M, Shaked HM, Alahmady N, Vance C, Newhouse SJ, Breen G, Nishimura AL, Shaw CE, Smith BN.
Gotkine M, et al. Among authors: shaked hm.
Neurobiol Aging. 2021 Oct;106:351.e1-351.e6. doi: 10.1016/j.neurobiolaging.2021.05.009. Epub 2021 Jun 4.
Neurobiol Aging. 2021.
PMID: 34272080
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Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Shaked HM, Rippert AL, Nomakuchi T, Izumi K, Kollman JM.
O'Neill AG, et al. Among authors: shaked hm.
bioRxiv [Preprint]. 2023 Mar 15:2023.03.15.532669. doi: 10.1101/2023.03.15.532669.
bioRxiv. 2023.
PMID: 36993700
Free PMC article.
Updated.
Preprint.
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