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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: mccubbin t. Hum Mol Genet. 2022 Oct 28;31(21):3597-3612. doi: 10.1093/hmg/ddac040. Hum Mol Genet. 2022. PMID: 35147173 Free PMC article.
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: mccubbin t. 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
A universal molecular control for DNA, mRNA and protein expression.
Gunter HM, Youlten SE, Reis ALM, McCubbin T, Madala BS, Wong T, Stevanovski I, Cipponi A, Deveson IW, Santini NS, Kummerfeld S, Croucher PI, Marcellin E, Mercer TR. Gunter HM, et al. Among authors: mccubbin t. Nat Commun. 2024 Mar 20;15(1):2480. doi: 10.1038/s41467-024-46456-9. Nat Commun. 2024. PMID: 38509097 Free PMC article.
37 results