Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Emmanuelle Sarzi"'
Autor:
Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaers
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1572-1577 (2019)
Abstract Homozygous mutations in MAG, encoding the myelin‐associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75 recessive spastic paraplegia. Here, we report the first patient with two compound he
Externí odkaz:
https://doaj.org/article/04eb0ee344294a4bb5cf3ccc67728744
Autor:
Juan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen, Christophe Verny, Christian Hamel, Dan Miléa, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier
Publikováno v:
Neurobiology of Disease, Vol 90, Iss , Pp 20-26 (2016)
Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve. Since then, an increasing number of symptoms invo
Externí odkaz:
https://doaj.org/article/7a66761b919e48789ee9bffc3c58a9b2
Autor:
Sophie Le Page, Marjorie Niro, Jérémy Fauconnier, Laura Cellier, Sophie Tamareille, Abdallah Gharib, Arnaud Chevrollier, Laurent Loufrani, Céline Grenier, Rima Kamel, Emmanuelle Sarzi, Alain Lacampagne, Michel Ovize, Daniel Henrion, Pascal Reynier, Guy Lenaers, Delphine Mirebeau-Prunier, Fabrice Prunier
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0164066 (2016)
Recent data suggests the involvement of mitochondrial dynamics in cardiac ischemia/reperfusion (I/R) injuries. Whilst excessive mitochondrial fission has been described as detrimental, the role of fusion proteins in this context remains uncertain.To
Externí odkaz:
https://doaj.org/article/9a94a432c8f143a69675a6b6f979acba
Autor:
Guillaume, Olivier, Philippe, Brabet, Nelly, Pirot, Morgane, Broyon, Laurent, Guillou, Chantal, Cazevieille, Chamroeun, Sar, Melanie, Quiles, Emmanuelle, Sarzi, Marie, Pequignot, Ervann, Andreo, Agathe, Roubertie, Isabelle, Meunier, Agnès, Muller, Vasiliki, Kalatzis, Gaël, Manes
Publikováno v:
Genes. 13(9)
Several pathogenic variants have been reported in the
Autor:
Guillaume Olivier, Philippe Brabet, Nelly Pirot, Morgane Broyon, Laurent Guillou, Chantal Cazevieille, Chamroeun Sar, Melanie Quiles, Emmanuelle Sarzi, Marie Pequignot, Ervann Andreo, Agathe Roubertie, Isabelle Meunier, Agnès Muller, Vasiliki Kalatzis, Gaël Manes
Publikováno v:
Genes; Volume 13; Issue 9; Pages: 1508
Several pathogenic variants have been reported in the IMPG1 gene associated with the inherited retinal disorders vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). IMPG1 and its paralog IMPG2 encode for two proteoglycans, SPACR and SP
Autor:
Laurent Loufrani, Coralyne Proux, Emilie Vessières, Arnaud Chevrollier, Samir Henni, Eric Lelièvre, Pauline Robert, Céline Fassot, Emmanuelle Sarzi, Phuc Minh Chau Nguyen, Delphine Prunier, Guys Lenaers, Céline Grenier, Pascal Reynier, Tristan Champin, Daniel Henrion, Alexis Richard, Mathilde Munier, Linda Grimaud
Publikováno v:
FASEB Journal
FASEB Journal, Federation of American Society of Experimental Biology, 2021, 35, ⟨10.1096/fj.202000238rrr⟩
FASEB Journal, Federation of American Society of Experimental Biology, 2021, 35, ⟨10.1096/fj.202000238rrr⟩
Hypertension is associated with excessive reactive oxygen species (ROS) production in vascular cells. Mitochondria undergo fusion and fission, a process playing a role in mitochondrial function. OPA1 is essential for mitochondrial fusion. Loss of OPA
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⟩
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
Autor:
Gaël Manes, Isabelle Meunier, Agathe Roubertie, Guy Lenaers, Nicolas Leboucq, Cécile Delettre, Agnès Guichet, Emmanuelle Sarzi, François Rivier, Pierre Meyer, Raul Junta Morales, Majida Charif, Guillaume Taieb
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2019, ⟨10.1002/acn3.50860⟩
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1572-1577 (2019)
Annals of Clinical and Translational Neurology, 2019, ⟨10.1002/acn3.50860⟩
Annals of Clinical and Translational Neurology, Wiley, 2019, ⟨10.1002/acn3.50860⟩
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1572-1577 (2019)
Annals of Clinical and Translational Neurology, 2019, ⟨10.1002/acn3.50860⟩
Homozygous mutations in MAG, encoding the myelin‐associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75 recessive spastic paraplegia. Here, we report the first patient with two compound heterozygou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68806d1a0a7898327d0ebd41ecbbb38e
https://hal.archives-ouvertes.fr/hal-02197816
https://hal.archives-ouvertes.fr/hal-02197816
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
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
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
Autor:
Guy Lenaers, Arnaud Chevrollier, Pascal Reynier, Vincent Procaccio, Christophe Verny, Juan Manuel Chao de la Barca, Dominique Bonneau, Naïg Gueguen, Stéphanie Leruez, D. Milea, Valérie Desquiret-Dumas, Céline Bris, Emmanuelle Sarzi, Christian P. Hamel, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré
Publikováno v:
Neurobiology of Disease, Vol 90, Iss, Pp 20-26 (2016)
Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2015, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩
Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2015, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩
International audience; Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve. Since then, an increasing