Mitochondrial Complex I activity signals antioxidant response through ERK5

Autor: Abrar Ul Haq Khan, Nerea Allende-Vega, Delphine Gitenay, Johan Garaude, Dang-Nghiem Vo, Sana Belkhala, Sabine Gerbal-Chaloin, Claire Gondeau, Martine Daujat-Chavanieu, Cécile Delettre, Stefania Orecchioni, Giovanna Talarico, Francesco Bertolini, Alberto Anel, José M. Cuezva, Jose A. Enriquez, Guillaume Cartron, Charles-Henri Lecellier, Javier Hernandez, Martin Villalba

Publikováno v: Scientific Reports, Vol 8, Iss 1, Pp 1-14 (2018)

Abstract Oxidative phosphorylation (OXPHOS) generates ROS as a byproduct of mitochondrial complex I activity. ROS-detoxifying enzymes are made available through the activation of their antioxidant response elements (ARE) in their gene promoters. NRF2

Externí odkaz: https://doaj.org/article/cc2bb76d7c6941359df8d4c75d727c38

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

Autor: Delphine Bonnet Wersinger, Nesrine Benkafadar, Jolanta Jagodzinska, Christian Hamel, Yukio Tanizawa, Guy Lenaers, Cécile Delettre

Publikováno v: PLoS ONE, Vol 9, Iss 5, p e97222 (2014)

Wolfram syndrome is an early onset genetic disease (1/180,000) featuring diabetes mellitus and optic neuropathy, associated to mutations in the WFS1 gene. Wfs1-/- mouse model shows pancreatic beta cell atrophy, but its visual performance has not been

Externí odkaz: https://doaj.org/article/7e43f6f4b6964110873391b023c9efbd

Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?

Autor: Naïg Gueguen, Pascal Amedro, Julie Piarroux, Pascal Reynier, Guy Lenaers, Isabelle Meunier, Mehdi Benkirane, Michel Koenig, Nicolas Leboucq, Cécile Delettre, Pierre Meyer, Agathe Roubertie, Emmanuelle Sarzi, Gaël Manes

Publikováno v: Mitochondrion
Mitochondrion, Elsevier, 2021, pp.169-174. ⟨10.1016/j.mito.2021.05.002⟩

Mitochondrial complex I (CI) deficiencies (OMIM 252010) are the commonest inherited mitochondrial disorders in children. Acyl-CoA dehydrogenase 9 (ACAD9) is a flavoenzyme involved chiefly in CI assembly and possibly in fatty acid oxidation. Biallelic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f96a5ac60e02f433fecfeee785a2ed7
https://pubmed.ncbi.nlm.nih.gov/34023438

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Autor: Oliver Bartsch, Nanna Dahl Rendtorff, Toke Bek, Julia Doll, Karen Østergaard, Béatrice Bocquet, Katherine Harrop-Griffiths, Shamima Rahman, Wojciech Kopec, Sture Lindholm, Claes Möller, Himanshu Khandelia, Kaukab Rajput, Barbara Vona, Cécile Delettre, Hanne Jensen, Lucinda Carr, Louise C. Wilson, Hanne Poulsen, Michael Bille, Maria Bitner-Glindzicz, Tobias Moser, Linda M. Luxon, Lisbeth Tranebjærg, Thomas Haaf, Troels Lyngbye, Nicola Strenzke, Hendrik Rosewich, Christian P. Hamel, Hanne H Owen, Tony Sirimanna

Publikováno v: Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111-127 . https://doi.org/10.1007/s00439-017-1862-z
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111–127 . https://doi.org/10.1007/s00439-017-1862-z

International audience; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G\textgreaterA, p.Glu818Lys, in AT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7426660fc4d077dcb8ac340d07464985
https://doi.org/10.1007/s00439-017-1862-z

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Autor: Cécile Delettre, Gaël Manes, Mélanie Quiles, Guy Lenaers, Marie O. Pequignot, Ulrich Kellner, Béatrice Bocquet, Helmut Wilhelm, Chantal Cazevieille, Audrey Sénéchal, Maria Solà, Fenna Hensen, Bernd Wissinger, Emmanuelle Sarzi, Camille Piro-Mégy, Xavier Zanlonghi, Aleix Tarrés-Solé, David Goudenège, Agathe Roubertie, Nicole Weisschuh, Christian P. Hamel, Majida Charif, Johannes N. Spelbrink, Arka Chakraborty, Agnès Muller

Publikováno v: J Clin Invest
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
The Journal of Clinical Investigation
Journal of Clinical Investigation, 130, 1, pp. 143-156
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
Journal of Clinical Investigation, 130, 143-156

© 2020, Piro-Mégy et al.
Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6a6e3579f08dffaaf3cc8d271ef404
https://pubmed.ncbi.nlm.nih.gov/31738184