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

Autor: Stylianos E. Antonarakis, Christel Thauvin-Robinet, Marilyn D. Resh, Laurence Faivre, Sandy Lambert, Isabelle Stévant, Christèle Desdoits-Lethimonier, Hiroshi Kurosaka, Paul A. Trainor, Federico Santoni, Christelle Borel, Bernard Jégou, Armine Matevossian, Antoine Rolland, Serge Nef, Frédéric Huet, Pierre Calvel, Françoise Kühne, Jadwiga Jaruzelska, Béatrice Conne, Patrick Callier, Séverine Mazaud-Guittot, Periklis Makrythanasis, Pascal Bernard, Céline Zimmermann, Michel Guipponi, Anne Vannier, Dagmar Wilhelm, Francine Mugneret

Publikováno v: PLoS Genet, vol. 10, no. 5, pp. e1004340
PLoS Genetics
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLOS Genetics, Vol. 10, No 5 (2014) P. e1004340
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. 〈10.1371/journal.pgen.1004340〉
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩

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 multime

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https://serval.unil.ch/resource/serval:BIB_359C54BAB25D.P001/REF.pdf