Combined oxidative phosphorylation deficiency (COXPD) is a rare, multisystem disorder that exhibits significant clinical and genetic heterogeneity. Through genome sequencing, we identified biallelic variants in MRPL49 in individuals from five unrelated families. These individuals presented a spectru...
Campare the difference between pairwise NOF and coCAF tissues for three patients patient #603: NOF #603 vs coCAF #603 patient #609: NOF #609 vs coCAF #609 patient #612: NOF #612 vs coCAF #612
Development of a degradomics strategy which combines the isolation of mitochondria (surfactants-based method) with the dimethylation-TAILS protocol for N-terminome enrichment.
The germ cell lineage ensures the continuity of life through the generation of male and female gametes, which unite to form a totipotent zygote. We have established a culture system that recapitulates the mouse germ-cell specification pathway: Using cytokines, embryonic stem cells (ESCs)/induced plu...
The germ cell lineage ensures the continuity of life through the generation of male and female gametes, which unite to form a totipotent zygote. We have established a culture system that recapitulates the mouse germ-cell specification pathway: Using cytokines, embryonic stem cells (ESCs)/induced plu...
