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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
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2018
2018
Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a… Expand
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2018
2018
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified… Expand
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2017
2017
SCL25A46 is a mitochondrial carrier protein that surprisingly localizes to the outer membrane and is distantly related to Ugo1… 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
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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
Neuropathies are neurodegenerative diseases affecting humans and other mammals. Many genetic causes have been identified so far… 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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2016
2016
Mitochondria form a dynamic network that responds to physiological signals and metabolic stresses by altering the balance between… Expand
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2015
2015
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary… Expand
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