Roser Gonzàlez-Duarte

TL;DR: It is shown that mutation of K99 clearly diminished USP25-dependent rescue of the specific substrate MyBPC1 from proteasome degradation, thereby supporting a new mechanistic model, in which USP 25m is regulated through alternative conjugation of ubiquitin or SUMO to the same lysine residue (K99), which may promote the interaction with distinct intramolecular regulatory domains.

TL;DR: Exhaustive ophthalmologic examination of the patients clearly distinguished the disease from the Stargardt and FFM phenotypes and revealed an atypical form of arRP with choroidal atrophy as a distinctive feature.

TL;DR: Biochemical analyses demonstrated that MyBPC1 is a short-lived proteasomal substrate, and its degradation is prevented by over-expression of USP 25m but not by other USP25 isoforms, indicating that their interaction with ACTA1 and FLNC appear to be stable proteins, indicating queuing up the pathogenesis of severe myopathies is not related to their turnover rate.

TL;DR: Phylogenetic analysis and chromosomal mapping of the vertebrate Adh gene cluster suggest that family expansion took place by tandem duplications, probably concurrent with the extensive isoform burst observed before the fish/tetrapode split, rather than through the large-scale genome duplications also postulated in early vertebrate evolution.