De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

12 páginas

Autores:

Küry, Sébastien
Besnard, Thomas
Ebstein, Frédéric
Khan, Tahir N.
Gambin, Tomasz
Douglas, Jessica
Bacino, Carlos A.
Sanders, Stephan J.
Lehmann, Andrea
Latypova, Xénia
Khan, Kamal
Pacault, Mathilde
Sacharow, Stephanie
Glaser, Kimberly
Bieth, Eric
Perrin-Sabourin, Laurence
Jacquemont, Marie Line
Cho, Megan T
Roeder, Elizabeth
Denommé Pichon, Anne Sophie
Monaghan, Kristin G.
Yuan, Bo
Xia, Fan
Simon, Sylvain
Bonneau, Dominique
Parent, Philippe
Gilbert Dussardier, Brigitte
Odent, Sylvie
Toutain, Annick
Pasquier, Laurent
Barbouth, Deborah Sara
Shaw, Chad A.
Patel, Ankita
Smith, Janice L.
Bi, Weimin
Schmitt, Sébastien
Deb, Wallid
Nizon, Mathilde
Mercier, Sandra
Vincent, Marie
Rooryck, Caroline
Malan, Valérie
Briceño Balcázar, Ignacio
Gómez Gutiérrez, Alberto
Nugent, Kimberly M.
Gibson, James B.
Cogné, Benjamin
Lupski, James R.
Stessman, Holly A.F.
Eichler, Evan E.
Retterer, Kyle
Yang, Yaping
Redon, Richard
Katsanis, Nicholas
Rosenfeld, Jill A.
Kloetzel, Peter Michael
Golzio, Christelle
Bézieau, Stéphane
Stankiewicz, Paweł
Isidor, Bertrand

Tipo de recurso:

Fecha de publicación:

2017

Institución:

Universidad de la Sabana

Repositorio:

Repositorio Universidad de la Sabana

Idioma:

eng

OAI Identifier:

oai:intellectum.unisabana.edu.co:10818/32978

Acceso en línea:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/pdf/main.pdf
http://hdl.handle.net/10818/32978

Palabra clave:

PSMD12
Intellectual disability
Proteasome 26S
RPN5
Ubiquitin
Syndromic neurodevelopmental disorder

Rights

License

Attribution-NonCommercial-NoDerivatives 4.0 International