Presentation
Benedetta received her PhD from the University of Padova (Italy). In this period, she studied how mitochondrial and cytosolic deoxyribonucleotides pools are regulated. Her postdoctoral research took place first at Karolinska Institute (Stockholm, Sweden) and then at the Max-Planck Institute (Cologne, Germany) where she studied the molecular mechanisms regulating mitochondrial gene expression using mouse genetics.
In the laboratory of Dr. RÖTIG, Benedetta works on understanding the pathomechanism of mitochondrial diseases caused by defects in mitochondrial gene expression using cell and mouse models. She co-supervises the Ph.D. student Ms. Cerane CAFOURNET on her work studying the tissue-specificity of LRPPRC-linked disease. She is also developing treatments for these disorders. In 2017, she obtained the Habilitation to Direct Research (HDR) from the Paris Descartes University.
Resources & publications
-
Journal (source)Am. J. Hum. Genet.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and...
-
Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
-
Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ...
-
Journal (source)Am. J. Hum. Genet.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
-
Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
-
Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...