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: e1004340

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...

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Veröffentlicht in:	PLoS genetics 2014-05, Vol.10 (5)
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Defects Experiments Genes Lipids Mutation Proteins
Online-Zugang:	Volltext
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