Article
A single mutation near the C-terminus in alpha/beta hydrolase fold protein family causes a defect in protein processing.
Chemico-biological interactions - 15 Dec 2005
De Jaco Antonella, Kovarik Zrinka, Comoletti Davide, Jennings Lori L, Gaietta Guido, Ellisman Mark H, Taylor Palmer
Abstract excerpt
An Arg to Cys mutation in the extracellular domain of neuroligin-3 (NL3) was recently found in a twin set with autism [S. Jamain, H. Quach, C. Betancur, M. Rastam, C. Colineaux, I.C. Gillberg, H. Soderstrom, B. Giros, M. Leboyer, C. Gillberg, T. Bourgeron, Paris Autism Research International Sibpair Study, mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism, Nat. Genet....
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