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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: stentenbach m. 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
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: stentenbach m. Hum Mol Genet. 2022 Oct 28;31(21):3597-3612. doi: 10.1093/hmg/ddac040. Hum Mol Genet. 2022. PMID: 35147173 Free PMC article.
The FASTK family proteins fine-tune mitochondrial RNA processing.
Ohkubo A, Van Haute L, Rudler DL, Stentenbach M, Steiner FA, Rackham O, Minczuk M, Filipovska A, Martinou JC. Ohkubo A, et al. Among authors: stentenbach m. PLoS Genet. 2021 Nov 8;17(11):e1009873. doi: 10.1371/journal.pgen.1009873. eCollection 2021 Nov. PLoS Genet. 2021. PMID: 34748562 Free PMC article.
A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance.
Rossetti G, Ermer JA, Stentenbach M, Siira SJ, Richman TR, Milenkovic D, Perks KL, Hughes LA, Jamieson E, Xiafukaiti G, Ward NC, Takahashi S, Gray N, Viola HM, Hool LC, Rackham O, Filipovska A. Rossetti G, et al. Among authors: stentenbach m. Sci Adv. 2021 Sep 24;7(39):eabi7514. doi: 10.1126/sciadv.abi7514. Epub 2021 Sep 24. Sci Adv. 2021. PMID: 34559558 Free PMC article.