Associated Papers
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
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
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
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J et al.
Brain : a Journal of Neurology, 2016
Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.
Bagli E et al.
In Vivo (athens, Greece), 0
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