@article{10818/32978,
year = {2017},
month = {2},
url = {http://hdl.handle.net/10818/32978},
abstract = {Trichosporon asahii es un hongo patógeno emergente reportado en la literatura médica principalmente en pacientes inmunocomprometidos. No obstante, el presente caso es inusual debido a que se trata de un paciente adulto joven inmunocompetente que presentó fungemia por T. asahii y al mismo tiempo desarrolló insuficiencia respiratoria aguda por bronquiolitis respiratoria y neumonía descamativa, la cual resolvió posterior al tratamiento antimicótico instaurado, soporte ventilatorio y vigilancia en Unidad de Cuidado Intesivo (UCI).},
abstract = {Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features. We observed reduced PSMD12 levels and an accumulation of ubiquitinated proteins without any impairment of proteasome catalytic activity. Our PSMD12 loss-of-function zebrafish CRISPR/Cas9 model exhibited microcephaly, decreased convolution of the renal tubules, and abnormal craniofacial morphology. Our data support the biological importance of PSMD12 as a scaffolding subunit in proteasome function during development and neurogenesis in particular; they enable the definition of a neurodevelopmental disorder due to PSMD12 variants, expanding the phenotypic spectrum of UPS-dependent disorders.},
publisher = {The American Journal of Human Genetics},
keywords = {PSMD12},
keywords = {Intellectual disability},
keywords = {Proteasome 26S},
keywords = {RPN5},
keywords = {Ubiquitin},
keywords = {Syndromic neurodevelopmental disorder},
title = {De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder},
doi = {10.1016/j.ajhg.2017.01.003},
author = {Küry, Sébastien and Besnard, Thomas and Ebstein, Frédéric and Khan, Tahir N. and Gambin, Tomasz and Douglas, Jessica and Bacino, Carlos A. and Sanders, Stephan J. and Lehmann, Andrea and Latypova, Xénia and Khan, Kamal and Pacault, Mathilde and Sacharow, Stephanie and Glaser, Kimberly and Bieth, Eric and Perrin-Sabourin, Laurence and Jacquemont, Marie Line and Cho, Megan T and Roeder, Elizabeth and Denommé Pichon, Anne Sophie and Monaghan, Kristin G. and Yuan, Bo and Xia, Fan and Simon, Sylvain and Bonneau, Dominique and Parent, Philippe and Gilbert Dussardier, Brigitte and Odent, Sylvie and Toutain, Annick and Pasquier, Laurent and Barbouth, Deborah Sara and Shaw, Chad A. and Patel, Ankita and Smith, Janice L. and Bi, Weimin and Schmitt, Sébastien and Deb, Wallid and Nizon, Mathilde and Mercier, Sandra and Vincent, Marie and Rooryck, Caroline and Malan, Valérie and Briceño Balcázar, Ignacio and Gómez Gutiérrez, Alberto and Nugent, Kimberly M. and Gibson, James B. and Cogné, Benjamin and Lupski, James R. and Stessman, Holly A.F. and Eichler, Evan E. and Retterer, Kyle and Yang, Yaping and Redon, Richard and Katsanis, Nicholas and Rosenfeld, Jill A. and Kloetzel, Peter Michael and Golzio, Christelle and Bézieau, Stéphane and Stankiewicz, Paweł and Isidor, Bertrand},
}