Associated Papers
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
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
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 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
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
Janer A et al.
Embo Molecular Medicine, 2016
Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.
Bagli E et al.
In Vivo (athens, Greece), 0
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