Associated Papers
Lack of genetic evidence for a role of SLC25A46 in alpha-synucleinopathies.
Yu H et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646756 (PubMed )
Supplement: media-1.xlsx › Table_S2
Assessment of SLC25A46 variants in idiopathic Parkinson's disease.
Schneider Z et al.
Parkinsonism & Related Disorders, 2026
An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.
Reynier P et al.
Neuro-ophthalmology (aeolus Press), 2026
Identification of SLC25A46 interaction interfaces with mitochondrial membrane fusogens Opa1 and Mfn2.
Boopathy S et al.
The Journal of Biological Chemistry, 2024
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
Schuettpelz J et al.
Life Science Alliance, 2023
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf
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
Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria.
Steffen J et al.
Molecular Biology of the Cell, 2017
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
Nguyen M et al.
Clinical Genetics, 2017
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J et al.
Brain : a Journal of Neurology, 2016
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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