Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Callier, Patrick, Calvel, Pierre, Matevossian, Armine, Makrythanasis, Periklis, Bernard, Pascal, Kurosaka, Hiroshi, Vannier, Anne, Thauvin-Robinet, Christel, Borel, Christelle, Mazaud-Guittot, Séverine, Rolland, Antoine, Desdoits-Lethimonier, Christèle, Guipponi, Michel, Zimmermann, Céline, Stévant, Isabelle, Kuhne, Françoise, Conne, Béatrice, Santoni, Federico, Lambert, Sandy, Huet, Frederic, Mugneret, Francine, Jaruzelska, Jadwiga, Faivre, Laurence, Wilhelm, Dagmar, Jégou, Bernard, Trainor, Paul A., Resh, Marilyn D., Antonarakis, Stylianos E., Nef, Serge
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4006744/
https://ncbi.nlm.nih.gov/pubmed/24784881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004340
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados