Associated Papers
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
32340404 (PubMed )
Supplement: biomolecules-10-00655-s001.pdf
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D et al.
Orphanet Journal of Rare Diseases, 2015
Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.
Monné M et al.
The Journal of Biological Chemistry, 2012
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A et al.
Human Mutation, 2009
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