Associated Papers
Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Abrams AJ et al.
Human Mutation, 2018
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
Braunisch MC et al.
Clinical Genetics, 2018
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.
Duchesne A et al.
Plos Genetics, 2017
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
Nguyen M et al.
Clinical Genetics, 2017
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ et al.
Nature Genetics, 2015
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