Associated Papers
SLC-25A46 regulates mitochondrial fusion through the mitofusin protein FZO-1 and is essential for maintaining neuronal morphology.
Obinata H et al.
Journal of Cell Science, 2025
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
Schuettpelz J et al.
Life Science Alliance, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases.
Zou W et al.
Journal of Nanobiotechnology, 2021
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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