Anna Segarra-Fas

TL;DR: Surprisingly, it is shown that SRPK has acquired the capacity to control a neurodevelopmental ubiquitin signaling pathway, and unappreciated functional diversification of SRPK is revealed to regulate ubiquit in signaling that ensures correct regulation of neuro developmental gene expression.

TL;DR: An embryonic stem cell model is employed to explore developmental functions of a recently identified XLID gene, the RNF12/RLIM E3 ubiquitin ligase, and shows that RNF 12 catalytic activity is required for proper stem cell maintenance and neural differentiation, and this is disrupted by patient-associated XLID mutation.

TL;DR: The MALDI TOF MS profiling method enables identification of unique features and robust phenotyping of mESC differentiation in under 1 hour from culture to analysis, which is significantly faster and cheaper when compared with conventional methods such as qPCR.

TL;DR: In this paper, a missense variant of the E3 ubiquitin ligase gene RLIM was identified, c.1262A>G p(Tyr421Cys) adjacent to the regulatory basic region, which causes a severe form of TOKAS resulting in perinatal lethality by diaphragmatic hernia.

TL;DR: In this paper, a universal workflow for mammalian cell MALDI-TOF mass spectrometry (MS) analysis is presented and applied to distinguish ground-state naive and differentiating mouse embryonic stem cells (mESCs).