Article
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle.
Proceedings of the National Academy of Sciences of the United States of America - 30 Oct 2007
Makita Noriko, Sato Junichiro, Rondard Philippe, Fukamachi Hiroshi, Yuasa Yasuhito, Aldred Micheala A, Hashimoto Makiko, Fujita Toshiro, Iiri Taroh
Abstract excerpt
Pseudohypoparathyroidism type Ia (PHP-Ia) results from the loss of one allele of G(salpha), causing resistance to parathyroid hormone and other hormones that transduce signals via G(s). Most G(salpha)mutations cause the complete loss of protein expression, but some cause loss of function only, and these have provided valuable insights into the normal function of G proteins. Here we have analyzed a mutant...
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