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AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI. Almajan ER, et al. Among authors: martinelli p. J Clin Invest. 2012 Nov;122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8. J Clin Invest. 2012. PMID: 23041622 Free PMC article.
The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.
Wang S, Jacquemyn J, Murru S, Martinelli P, Barth E, Langer T, Niessen CM, Rugarli EI. Wang S, et al. Among authors: martinelli p. PLoS Genet. 2016 Dec 2;12(12):e1006463. doi: 10.1371/journal.pgen.1006463. eCollection 2016 Dec. PLoS Genet. 2016. PMID: 27911893 Free PMC article.
BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella.
Andree M, Seeger JM, Schüll S, Coutelle O, Wagner-Stippich D, Wiegmann K, Wunderlich CM, Brinkmann K, Broxtermann P, Witt A, Fritsch M, Martinelli P, Bielig H, Lamkemeyer T, Rugarli EI, Kaufmann T, Sterner-Kock A, Wunderlich FT, Villunger A, Martins LM, Krönke M, Kufer TA, Utermöhlen O, Kashkar H. Andree M, et al. Among authors: martinelli p. EMBO J. 2014 Oct 1;33(19):2171-87. doi: 10.15252/embj.201387244. Epub 2014 Jul 23. EMBO J. 2014. PMID: 25056906 Free PMC article.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Pierson TM, et al. Among authors: martinelli p. PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022284 Free PMC article.
Cohort profile: demographic and clinical characteristics of the MILESTONE longitudinal cohort of young people approaching the upper age limit of their child mental health care service in Europe.
Gerritsen SE, Maras A, van Bodegom LS, Overbeek MM, Verhulst FC, Wolke D, Appleton R, Bertani A, Cataldo MG, Conti P, Da Fonseca D, Davidović N, Dodig-Ćurković K, Ferrari C, Fiori F, Franić T, Gatherer C, De Girolamo G, Heaney N, Hendrickx G, Kolozsvari A, Levi FM, Lievesley K, Madan J, Martinelli O, Mastroianni M, Maurice V, McNicholas F, O'Hara L, Paul M, Purper-Ouakil D, de Roeck V, Russet F, Saam MC, Sagar-Ouriaghli I, Santosh PJ, Sartor A, Schandrin A, Schulze UME, Signorini G, Singh SP, Singh J, Street C, Tah P, Tanase E, Tremmery S, Tuffrey A, Tuomainen H, van Amelsvoort TAMJ, Wilson A, Walker L, Dieleman GC; Milestone consortium. Gerritsen SE, et al. BMJ Open. 2021 Dec 16;11(12):e053373. doi: 10.1136/bmjopen-2021-053373. BMJ Open. 2021. PMID: 34916319 Free PMC article.
570 results