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OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM, Prunier-Mirebeau D, Amati-Bonneau P, Ferré M, Sarzi E, Bris C, Leruez S, Chevrollier A, Desquiret-Dumas V, Gueguen N, Verny C, Hamel C, Miléa D, Procaccio V, Bonneau D, Lenaers G, Reynier P. Chao de la Barca JM, et al. Among authors: leruez s. Neurobiol Dis. 2016 Jun;90:20-6. doi: 10.1016/j.nbd.2015.08.015. Epub 2015 Aug 23. Neurobiol Dis. 2016. PMID: 26311407
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.
Bocca C, Kouassi Nzoughet J, Leruez S, Amati-Bonneau P, Ferré M, Kane MS, Veyrat-Durebex C, Chao de la Barca JM, Chevrollier A, Homedan C, Verny C, Miléa D, Procaccio V, Simard G, Bonneau D, Lenaers G, Reynier P. Bocca C, et al. Among authors: leruez s. Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):185-195. doi: 10.1167/iovs.17-23027. Invest Ophthalmol Vis Sci. 2018. PMID: 29340645 Free article.
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.
Chao de la Barca JM, Simard G, Sarzi E, Chaumette T, Rousseau G, Chupin S, Gadras C, Tessier L, Ferré M, Chevrollier A, Desquiret-Dumas V, Gueguen N, Leruez S, Verny C, Miléa D, Bonneau D, Amati-Bonneau P, Procaccio V, Hamel C, Lenaers G, Reynier P, Prunier-Mirebeau D. Chao de la Barca JM, et al. Among authors: leruez s. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):812-820. doi: 10.1167/iovs.16-21116. Invest Ophthalmol Vis Sci. 2017. PMID: 28159969
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Chao de la Barca JM, Simard G, Amati-Bonneau P, Safiedeen Z, Prunier-Mirebeau D, Chupin S, Gadras C, Tessier L, Gueguen N, Chevrollier A, Desquiret-Dumas V, Ferré M, Bris C, Kouassi Nzoughet J, Bocca C, Leruez S, Verny C, Miléa D, Bonneau D, Lenaers G, Martinez MC, Procaccio V, Reynier P. Chao de la Barca JM, et al. Among authors: leruez s. Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222. Brain. 2016. PMID: 27633772
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: leruez s. Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219. Brain. 2017. PMID: 28969390
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: leruez s. Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. Brain. 2018. PMID: 29529130 No abstract available.
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli V, Procaccio V, Zanlonghi X, Meunier I, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: leruez s. Neurol Genet. 2020 May 20;6(3):e428. doi: 10.1212/NXG.0000000000000428. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32548275 Free PMC article.
Mitochondrial dysfunction affecting visual pathways.
Leruez S, Amati-Bonneau P, Verny C, Reynier P, Procaccio V, Bonneau D, Milea D. Leruez S, et al. Rev Neurol (Paris). 2014 May;170(5):344-54. doi: 10.1016/j.neurol.2014.03.009. Epub 2014 May 3. Rev Neurol (Paris). 2014. PMID: 24798923 Review.
44 results