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PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome.
Spinazzi M, Radaelli E, Horré K, Arranz AM, Gounko NV, Agostinis P, Maia TM, Impens F, Morais VA, Lopez-Lluch G, Serneels L, Navas P, De Strooper B. Spinazzi M, et al. Among authors: morais va. Proc Natl Acad Sci U S A. 2019 Jan 2;116(1):277-286. doi: 10.1073/pnas.1811938116. Epub 2018 Dec 21. Proc Natl Acad Sci U S A. 2019. PMID: 30578322 Free PMC article.
The yeast complex I equivalent NADH dehydrogenase rescues pink1 mutants.
Vilain S, Esposito G, Haddad D, Schaap O, Dobreva MP, Vos M, Van Meensel S, Morais VA, De Strooper B, Verstreken P. Vilain S, et al. Among authors: morais va. PLoS Genet. 2012 Jan;8(1):e1002456. doi: 10.1371/journal.pgen.1002456. Epub 2012 Jan 5. PLoS Genet. 2012. PMID: 22242018 Free PMC article.
Vitamin K2 is a mitochondrial electron carrier that rescues pink1 deficiency.
Vos M, Esposito G, Edirisinghe JN, Vilain S, Haddad DM, Slabbaert JR, Van Meensel S, Schaap O, De Strooper B, Meganathan R, Morais VA, Verstreken P. Vos M, et al. Among authors: morais va. Science. 2012 Jun 8;336(6086):1306-10. doi: 10.1126/science.1218632. Epub 2012 May 10. Science. 2012. PMID: 22582012 Free article.
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RM, Vianna-Morgante AM, De Strooper B, Van Esch H, Morais VA, Verstreken P. Haddad DM, et al. Among authors: morais va. Mol Cell. 2013 Jun 27;50(6):831-43. doi: 10.1016/j.molcel.2013.04.012. Epub 2013 May 16. Mol Cell. 2013. PMID: 23685073 Free article.
57 results