Matches in SemOpenAlex for { <https://semopenalex.org/work/W4210663723> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W4210663723 endingPage "2172" @default.
- W4210663723 startingPage "2153" @default.
- W4210663723 abstract "In the medical literature the term 'mitochondrial disorders' is to a large extent applied to the clinical syndromes associated with abnormalities of the common final pathway of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS). Faulty oxidative phosphorylation may be due to overall dysfunction of the respiratory chain, a heteromultimeric structure embedded in the inner mitochondrial membrane, or can be associated with single or multiple defects of the five complexes forming the respiratory chain itself. From the genetic standpoint, the respiratory chain is a unique structure of the inner mitochondrial membrane formed by means of the complementation of two separate genetic systems: the nuclear genome and the mitochondrial genome. The nuclear genome encodes the large majority of the protein subunits of the respiratory complexes and most of the mitochondrial DNA (mtDNA) replication and expression systems, whereas the mitochondrial genome encodes only 13 respiratory complex subunits, and some RNA components of the mitochondrial translational apparatus. Accordingly, mitochondrial disorders due to defects in OXPHOS include both mendelian-inherited and cytoplasmic-inherited diseases. This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS." @default.
- W4210663723 created "2022-02-08" @default.
- W4210663723 creator A5048857899 @default.
- W4210663723 creator A5073056364 @default.
- W4210663723 date "2004-09-13" @default.
- W4210663723 modified "2023-10-13" @default.
- W4210663723 title "Mitochondrial disorders" @default.
- W4210663723 doi "https://doi.org/10.1093/brain/awh259" @default.
- W4210663723 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15358637" @default.
- W4210663723 hasPublicationYear "2004" @default.
- W4210663723 type Work @default.
- W4210663723 citedByCount "316" @default.
- W4210663723 countsByYear W42106637232012 @default.
- W4210663723 countsByYear W42106637232013 @default.
- W4210663723 countsByYear W42106637232014 @default.
- W4210663723 countsByYear W42106637232015 @default.
- W4210663723 countsByYear W42106637232016 @default.
- W4210663723 countsByYear W42106637232017 @default.
- W4210663723 countsByYear W42106637232018 @default.
- W4210663723 countsByYear W42106637232019 @default.
- W4210663723 countsByYear W42106637232020 @default.
- W4210663723 countsByYear W42106637232021 @default.
- W4210663723 countsByYear W42106637232022 @default.
- W4210663723 countsByYear W42106637232023 @default.
- W4210663723 crossrefType "journal-article" @default.
- W4210663723 hasAuthorship W4210663723A5048857899 @default.
- W4210663723 hasAuthorship W4210663723A5073056364 @default.
- W4210663723 hasBestOaLocation W42106637231 @default.
- W4210663723 hasConcept C104317684 @default.
- W4210663723 hasConcept C111491248 @default.
- W4210663723 hasConcept C127716648 @default.
- W4210663723 hasConcept C151994961 @default.
- W4210663723 hasConcept C163950672 @default.
- W4210663723 hasConcept C188082640 @default.
- W4210663723 hasConcept C24586158 @default.
- W4210663723 hasConcept C2777614518 @default.
- W4210663723 hasConcept C28859421 @default.
- W4210663723 hasConcept C3020377403 @default.
- W4210663723 hasConcept C3020761558 @default.
- W4210663723 hasConcept C54355233 @default.
- W4210663723 hasConcept C55493867 @default.
- W4210663723 hasConcept C57600042 @default.
- W4210663723 hasConcept C86803240 @default.
- W4210663723 hasConcept C95444343 @default.
- W4210663723 hasConceptScore W4210663723C104317684 @default.
- W4210663723 hasConceptScore W4210663723C111491248 @default.
- W4210663723 hasConceptScore W4210663723C127716648 @default.
- W4210663723 hasConceptScore W4210663723C151994961 @default.
- W4210663723 hasConceptScore W4210663723C163950672 @default.
- W4210663723 hasConceptScore W4210663723C188082640 @default.
- W4210663723 hasConceptScore W4210663723C24586158 @default.
- W4210663723 hasConceptScore W4210663723C2777614518 @default.
- W4210663723 hasConceptScore W4210663723C28859421 @default.
- W4210663723 hasConceptScore W4210663723C3020377403 @default.
- W4210663723 hasConceptScore W4210663723C3020761558 @default.
- W4210663723 hasConceptScore W4210663723C54355233 @default.
- W4210663723 hasConceptScore W4210663723C55493867 @default.
- W4210663723 hasConceptScore W4210663723C57600042 @default.
- W4210663723 hasConceptScore W4210663723C86803240 @default.
- W4210663723 hasConceptScore W4210663723C95444343 @default.
- W4210663723 hasIssue "10" @default.
- W4210663723 hasLocation W42106637231 @default.
- W4210663723 hasLocation W42106637232 @default.
- W4210663723 hasOpenAccess W4210663723 @default.
- W4210663723 hasPrimaryLocation W42106637231 @default.
- W4210663723 hasRelatedWork W2020985206 @default.
- W4210663723 hasRelatedWork W2094521844 @default.
- W4210663723 hasRelatedWork W2097769256 @default.
- W4210663723 hasRelatedWork W2131226021 @default.
- W4210663723 hasRelatedWork W2317519480 @default.
- W4210663723 hasRelatedWork W2998638237 @default.
- W4210663723 hasRelatedWork W4210663723 @default.
- W4210663723 hasRelatedWork W4210805057 @default.
- W4210663723 hasRelatedWork W4252074316 @default.
- W4210663723 hasRelatedWork W4311168198 @default.
- W4210663723 hasVolume "127" @default.
- W4210663723 isParatext "false" @default.
- W4210663723 isRetracted "false" @default.
- W4210663723 workType "article" @default.