Concepedia

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

Jose A. Camacho, Rebecca Mardach, Natalia Rioseco‐Camacho, Eduardo Ruiz‐Pesini, Olga Derbeneva, Darío Andrade, Frank Zaldivar, Yong Qu, Stephen D. Cederbaum

Pediatric Research · 2006 · 34 citations · 12 references

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12

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

Eduardo Ruiz‐Pesini, Dan Mishmar, Martin Brandon et al. · Science · 2004 · 816 citations

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Urea cycle enzymes

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

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

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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 · 205 citations

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The Mitochondrial Ornithine Transporter

Giuseppe Fiermonte, Vincenza Dolce, L Garbers David et al. · Journal of Biological Chemistry · 2003 · 139 citations · Full text

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