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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Journal article   Open access  Peer reviewed

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J Abrams, Robert B Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael A Gonzalez, Ion J Campeanu, Laurie B Griffin, Saskia Groenewald, Alleene V Strickland, …
Nature genetics, Vol.47(8), pp.926-932
2015-08
PMID: 26168012

Abstract

Humans Optic Atrophy, Autosomal Dominant - metabolism Embryo, Nonmammalian - metabolism Phosphate Transport Proteins - metabolism Cercopithecus aethiops Embryo, Nonmammalian - embryology Male Mitochondrial Proteins - genetics Zebrafish - embryology Charcot-Marie-Tooth Disease - genetics RNA Interference Mitochondrial Proteins - metabolism HEK293 Cells Muscle Proteins - metabolism Female Membrane Proteins - metabolism Optic Atrophy, Autosomal Dominant - pathology Phosphate Transport Proteins - genetics Charcot-Marie-Tooth Disease - metabolism Microscopy, Electron, Transmission Genetic Predisposition to Disease - genetics Animals, Genetically Modified Membrane Proteins - genetics Saccharomyces cerevisiae Proteins - genetics Sequence Analysis, DNA Mitochondrial Membranes - metabolism Muscle Proteins - genetics Microscopy, Confocal Exome - genetics Animals Pedigree Embryo, Nonmammalian - ultrastructure Zebrafish - metabolism Optic Atrophy, Autosomal Dominant - genetics Saccharomyces cerevisiae Proteins - metabolism Protein Binding Mutation COS Cells
url
https://doi.org/10.1038/ng.3354View
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1 Clinical & Life Sciences
1.197 Molecular & Cell Biology - Mitochondria
1.197.564 Mitochondrial DNA
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Genetics & Heredity
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Molecular Biology & Genetics

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