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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium; Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A. Lee RG, et al. Among authors: reid ge. Hum Mol Genet. 2022 Oct 28;31(21):3597-3612. doi: 10.1093/hmg/ddac040. Hum Mol Genet. 2022. PMID: 35147173 Free PMC article.
Phosphoinositide and redox dysregulation by the anticancer methylthioadenosine phosphorylase transition state inhibitor.
Salita T, Rustam YH, Hofferek V, Jackson M, Tollestrup I, Sheridan JP, Schramm VL, Evans GB, Reid GE, Munkacsi AB. Salita T, et al. Among authors: reid ge. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Sep;1868(9):159346. doi: 10.1016/j.bbalip.2023.159346. Epub 2023 Jun 8. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 37301365
Quantitative subcellular reconstruction reveals a lipid mediated inter-organelle biogenesis network.
Lee RG, Rudler DL, Raven SA, Peng L, Chopin A, Moh ESX, McCubbin T, Siira SJ, Fagan SV, DeBono NJ, Stentenbach M, Browne J, Rackham FF, Li J, Simpson KJ, Marcellin E, Packer NH, Reid GE, Padman BS, Rackham O, Filipovska A. Lee RG, et al. Among authors: reid ge. Nat Cell Biol. 2024 Jan;26(1):57-71. doi: 10.1038/s41556-023-01297-4. Epub 2023 Dec 21. Nat Cell Biol. 2024. PMID: 38129691
189 results