Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome

Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

Eduardo Ruiz‐Pesini, Dan Mishmar, Martin Brandon et al. · Science · 2004 · 808 citations

Genetics, Dna Analysis, Amino Acid Conservation +22

Urea cycle enzymes

Sw Brusilow · Medical Entomology and Zoology · 2001 · 347 citations

Cellular Enzymology, Biochemistry, Enzyme Catalysis +2

Analysis of Steady-state Protein Phosphorylation in Mitochondria Using a Novel Fluorescent Phosphosensor Dye

Birte Schulenberg, Robert Aggeler, Joseph Beechem et al. · Journal of Biological Chemistry · 2003 · 231 citations · Full text

Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Jose A. Camacho, Cassandra Obie, Barbara J. Biery et al. · Nature Genetics · 1999 · 204 citations

Mitochondrial Ornithine Transporter, Urology, Mendelian Disorder +8

The Mitochondrial Ornithine Transporter

Giuseppe Fiermonte, Vincenza Dolce, L Garbers David et al. · Journal of Biological Chemistry · 2003 · 138 citations · Full text