James J. Cali

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

James J. Cali, C L Hsieh, Uta Francke et al. · Journal of Biological Chemistry · 1991 · 499 citations · Full text

Oxysterol, Hepatology, Biochemistry +14

Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.

James J. Cali, David W. Russell · Journal of Biological Chemistry · 1991 · 365 citations · Full text

Type VIII adenylyl cyclase. A Ca2+/calmodulin-stimulated enzyme expressed in discrete regions of rat brain.

James J. Cali, John C. Zwaagstra, N. Mons et al. · Journal of Biological Chemistry · 1994 · 361 citations · Full text

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

Eran Leitersdorf, Ayeleth Reshef, Vardiella Meiner et al. · Journal of Clinical Investigation · 1993 · 197 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +14

Selective tissue distribution of G protein gamma subunits, including a new form of the gamma subunits identified by cDNA cloning.

James J. Cali, Eric A. Balcueva, Janet D. Robishaw · Journal of Biological Chemistry · 1992 · 138 citations · Full text

Genetics, Molecular Biology, Alpha Subunits +24