Presentation
Agnès RÖTIG is research director (DR1, INSERM) in Institut Imagine. She completed her PhD in mitochondrial biology in Université Pierre et Marie Curie. She carried a post-doctoral training in INSERM U12 in Necker hospital during which she has built her research group in the field of mitochondrial disorders in very close collaboration with the Genetic Unit of Necker Hospital. By using gene mapping, candidate gene analysis and now next generation sequencing, she has described several novel genes responsible of these disorders.
Resources & publications
-
2017Journal (source)Am. J. Hum. Genet.Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ...
-
2021Journal (source)Blood
Defective palmitoylation of transferrin receptor triggers iron overload in Fr...
-
2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
-
2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
-
2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
-
2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
-
2021Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
-
2020Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...
-
2020Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
-
2018Journal (source)Am. J. Hum. Genet.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati...
-
2019Journal (source)Nature
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
-
2018Journal (source)Am. J. Hum. Genet.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
-
2017Journal (source)Am. J. Hum. Genet.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and...
-
2018Journal (source)Am. J. Hum. Genet.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with...
-
2019Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
-
2019Journal (source)J. Med. Genet.
Segregation of mitochondrial DNA mutations in the human placenta: implication...
-
2017Journal (source)Am. J. Hum. Genet.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe En...
-
2017Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa...
-
2018Journal (source)Nat Commun
Genetic diagnosis of Mendelian disorders via RNA sequencing.
-
2017Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
-
2018Journal (source)J. Med. Genet.
No correlation between mtDNA amount and methylation levels at the CpG island ...
-
2017Journal (source)Eur. J. Hum. Genet.
High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
-
2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
-
2017Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...