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SLC25A46 gene

Known as: SLC25A46, SOLUTE CARRIER FAMILY 25, MEMBER 46, solute carrier family 25 member 46 
 
National Institutes of Health

Papers overview

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2020
2020
A phenomenon of genetic compensation is commonly observed when an organism with a disease-bearing mutation shows incomplete… Expand
2018
2018
Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a… Expand
2018
2018
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified… Expand
2017
2017
SCL25A46 is a mitochondrial carrier protein that localizes to the outer membrane. Mutation L341P causes rapid degradation of… Expand
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2017
2017
The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some… Expand
2017
2017
Recently, we identified biallelic mutations of SLC25A46 in patients with multiple neuropathies. Functional studies revealed that… Expand
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2017
2017
Background: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical… Expand
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2017
2017
Neuropathies are neurodegenerative diseases affecting humans and other mammals. Many genetic causes have been identified so far… Expand
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Highly Cited
2016
Highly Cited
2016
Mitochondria form a dynamic network that responds to physiological signals and metabolic stresses by altering the balance between… Expand
2015
2015
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary… Expand
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