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Reply: The expanding neurological phenotype of DNM1L-related disorders.
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.
Item in Clipboard
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.
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Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts.
Bocca C, Kane MS, Veyrat-Durebex C, Nzoughet JK, Chao de la Barca JM, Chupin S, Alban J, Procaccio V, Bonneau D, Simard G, Lenaers G, Reynier P, Chevrollier A.
Bocca C, et al. Among authors: alban j.
J Proteome Res. 2019 Jul 5;18(7):2779-2790. doi: 10.1021/acs.jproteome.9b00081. Epub 2019 Jun 14.
J Proteome Res. 2019.
PMID: 31199663
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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.
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Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.
Chevrollier A, Cassereau J, Ferré M, Alban J, Desquiret-Dumas V, Gueguen N, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P.
Chevrollier A, et al. Among authors: alban j.
Int J Biochem Cell Biol. 2012 Jun;44(6):980-8. doi: 10.1016/j.biocel.2012.03.006. Epub 2012 Mar 17.
Int J Biochem Cell Biol. 2012.
PMID: 22433900
Free article.
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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
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