A mutation in the mitochondrial aspartate/glutamate carrier leads to a more oxidizing intramitochondrial environment and an inflammatory myopathy in Dutch shepherd dogs
Background: Inflammatory myopathies are characterized by infiltration of inflammatory cells into muscle. Typically, immune-mediated disorders such as polymyositis, dermatomyositis and inclusion body myositis are diagnosed. Objective: A small family of dogs with early onset muscle weakness and inflammatory muscle biopsies were investigated for an underlying genetic cause. Methods: Following the histopathological diagnosis of inflammatory myopathy, mutational analysis including whole genome sequencing, functional transport studies of the mutated and wild-type proteins, and metabolomic analysis w... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2019 |
Verlag/Hrsg.: |
IOS Press
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Schlagwörter: | Canine / Metabolomics / Mitochondrial transporter / Myopathy / SLC25A12 / Amino Acid Transport Systems / Acidic / Animals / Antiporters / Aspartic Acid / Dermatomyositis / Dog Diseases / Dogs / Glutamic Acid / Humans / Mitochondria / Mutation / Myositis / Oxidation-Reduction / Polymyositis |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28620768 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/11570/3167720 |