基本信息
浏览量:445
职业迁徙
个人简介
Major achievements:
- Identification of OPA1 as the principal gene responsible for Dominant Optic Atrophy (DOA, Delettre, 2000 and 2001)
- Localisation of OPA1 in the mitochondria (Olichon 2002)
- First characterization of OPA1 functions in mitochondrial dynamics, cristae structure and apoptosis (Olichon, 2003)
- Contribution to the discovery of mutations in OPA3 gene in DOA + cataract. (Reynier 2004)
- Contribution to the characterisation of the first syndromic DOA patients (Amati-Bonneau, 2005)
- Characterization of DOA pathophysiology (Kamei, 2005, Olichon, 2007)
- Characterization of the function of OPA1 isoforms and cleavage (Olichon, 2007; Baricault 2007)
- Identification of the genetic basis of a reversible form of DOA (Cornille, 2008)
- Participation to a multi-centric analysis of syndromic DOA patients (Amati-Bonneau, 2008)
- Characterization of OPA1 function in calcium clearance in retinal ganglion cells (Dayanithi, 2010)
- Characterization of OPA1 involvement in mitochondrial genome maintenance (Elachouri, 2011)
- Characterization of Opa1 (Sarzi, 2012) and Wfs1 (Bonnet in prep) mouse models.
- Identification of OPA1 as the principal gene responsible for Dominant Optic Atrophy (DOA, Delettre, 2000 and 2001)
- Localisation of OPA1 in the mitochondria (Olichon 2002)
- First characterization of OPA1 functions in mitochondrial dynamics, cristae structure and apoptosis (Olichon, 2003)
- Contribution to the discovery of mutations in OPA3 gene in DOA + cataract. (Reynier 2004)
- Contribution to the characterisation of the first syndromic DOA patients (Amati-Bonneau, 2005)
- Characterization of DOA pathophysiology (Kamei, 2005, Olichon, 2007)
- Characterization of the function of OPA1 isoforms and cleavage (Olichon, 2007; Baricault 2007)
- Identification of the genetic basis of a reversible form of DOA (Cornille, 2008)
- Participation to a multi-centric analysis of syndromic DOA patients (Amati-Bonneau, 2008)
- Characterization of OPA1 function in calcium clearance in retinal ganglion cells (Dayanithi, 2010)
- Characterization of OPA1 involvement in mitochondrial genome maintenance (Elachouri, 2011)
- Characterization of Opa1 (Sarzi, 2012) and Wfs1 (Bonnet in prep) mouse models.
研究兴趣
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