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Reply: The expanding neurological phenotype of DNM1L-related disorders.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Among authors: alban j. Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. Brain. 2018. PMID: 29529130 No abstract available.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G. Charif M, et al. Among authors: alban j. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.
Bocca C, Kane MS, Veyrat-Durebex C, Chupin S, Alban J, Kouassi Nzoughet J, Le Mao M, Chao de la Barca JM, Amati-Bonneau P, Bonneau D, Procaccio V, Lenaers G, Simard G, Chevrollier A, Reynier P. Bocca C, et al. Among authors: alban j. Sci Rep. 2018 Aug 1;8(1):11528. doi: 10.1038/s41598-018-29972-9. Sci Rep. 2018. PMID: 30068998 Free PMC article.
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
Kane MS, Alban J, Desquiret-Dumas V, Gueguen N, Ishak L, Ferre M, Amati-Bonneau P, Procaccio V, Bonneau D, Lenaers G, Reynier P, Chevrollier A. Kane MS, et al. Among authors: alban j. J Cell Mol Med. 2017 Oct;21(10):2284-2297. doi: 10.1111/jcmm.13149. Epub 2017 Apr 4. J Cell Mol Med. 2017. PMID: 28378518 Free PMC article.
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Among authors: alban j. Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219. Brain. 2017. PMID: 28969390