FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2115305202> ?p ?o ?g. }

• W2115305202 endingPage "1064" @default.
• W2115305202 startingPage "1058" @default.
• W2115305202 abstract "Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal-dominant movement disorder characterized by attacks of dystonia, chorea and athetosis. Myofibrillogenesis regulator-1 (MR-1), the gene responsible for PNKD, is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M) and small (MR-1S). Two mutations, A7V and A9V, were previously discovered in the N-terminal region common to MR-1L and MR-1S. We now found a third mutation, A33P, in a new PNKD patient in the same region. Contrary to previous reports, we show here that the mutation-free MR-1M is localized in the Golgi apparatus, ER and plasma membrane, whereas both MR-1L and MR-1S isoforms are mitochondrial proteins, imported into the organelle thanks to a 39 amino acid-long, N-terminal mitochondrial targeting sequence (MTS). The MTS, which contains all three PNKD mutations, is then cleaved off the mature proteins before their insertion in the inner mitochondrial membrane. Therefore, mature MR-1S and MR-1L of PNKD patients are identical to those of normal subjects. We found no difference in import efficiency and protein maturation between wild-type and mutant MR-1 variants. These results indicate that PNKD is due to a novel disease mechanism based on a deleterious action of the MTS." @default.
• W2115305202 created "2016-06-24" @default.
• W2115305202 creator A5002764975 @default.
• W2115305202 creator A5015795505 @default.
• W2115305202 creator A5039883684 @default.
• W2115305202 creator A5042500656 @default.
• W2115305202 creator A5048857899 @default.
• W2115305202 creator A5070209892 @default.
• W2115305202 creator A5087608233 @default.
• W2115305202 date "2009-01-05" @default.
• W2115305202 modified "2023-09-26" @default.
• W2115305202 title "Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence" @default.
• W2115305202 cites W1717988203 @default.
• W2115305202 cites W1967666634 @default.
• W2115305202 cites W1972476228 @default.
• W2115305202 cites W1974708374 @default.
• W2115305202 cites W1982441008 @default.
• W2115305202 cites W2006159932 @default.
• W2115305202 cites W2018736093 @default.
• W2115305202 cites W2032606344 @default.
• W2115305202 cites W2047475536 @default.
• W2115305202 cites W2060178110 @default.
• W2115305202 cites W2071136574 @default.
• W2115305202 cites W2106882534 @default.
• W2115305202 cites W2110632298 @default.
• W2115305202 cites W2120271502 @default.
• W2115305202 cites W2128610702 @default.
• W2115305202 cites W2138881473 @default.
• W2115305202 cites W2139733850 @default.
• W2115305202 cites W2144362290 @default.
• W2115305202 cites W2147409552 @default.
• W2115305202 cites W2149824310 @default.
• W2115305202 cites W2155201844 @default.
• W2115305202 cites W2155252547 @default.
• W2115305202 cites W2160107586 @default.
• W2115305202 cites W2166483810 @default.
• W2115305202 cites W2462855682 @default.
• W2115305202 cites W4376848558 @default.
• W2115305202 doi "https://doi.org/10.1093/hmg/ddn441" @default.
• W2115305202 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19124534" @default.
• W2115305202 hasPublicationYear "2009" @default.
• W2115305202 type Work @default.
• W2115305202 sameAs 2115305202 @default.
• W2115305202 citedByCount "66" @default.
• W2115305202 countsByYear W21153052022012 @default.
• W2115305202 countsByYear W21153052022013 @default.
• W2115305202 countsByYear W21153052022014 @default.
• W2115305202 countsByYear W21153052022015 @default.
• W2115305202 countsByYear W21153052022016 @default.
• W2115305202 countsByYear W21153052022017 @default.
• W2115305202 countsByYear W21153052022018 @default.
• W2115305202 countsByYear W21153052022019 @default.
• W2115305202 countsByYear W21153052022020 @default.
• W2115305202 countsByYear W21153052022021 @default.
• W2115305202 countsByYear W21153052022022 @default.
• W2115305202 crossrefType "journal-article" @default.
• W2115305202 hasAuthorship W2115305202A5002764975 @default.
• W2115305202 hasAuthorship W2115305202A5015795505 @default.
• W2115305202 hasAuthorship W2115305202A5039883684 @default.
• W2115305202 hasAuthorship W2115305202A5042500656 @default.
• W2115305202 hasAuthorship W2115305202A5048857899 @default.
• W2115305202 hasAuthorship W2115305202A5070209892 @default.
• W2115305202 hasAuthorship W2115305202A5087608233 @default.
• W2115305202 hasBestOaLocation W21153052021 @default.
• W2115305202 hasConcept C104317684 @default.
• W2115305202 hasConcept C142724271 @default.
• W2115305202 hasConcept C143065580 @default.
• W2115305202 hasConcept C153911025 @default.
• W2115305202 hasConcept C169760540 @default.
• W2115305202 hasConcept C189978740 @default.
• W2115305202 hasConcept C2778559928 @default.
• W2115305202 hasConcept C2778868616 @default.
• W2115305202 hasConcept C2779134260 @default.
• W2115305202 hasConcept C2779248548 @default.
• W2115305202 hasConcept C2779734285 @default.
• W2115305202 hasConcept C2780405171 @default.
• W2115305202 hasConcept C501734568 @default.
• W2115305202 hasConcept C54355233 @default.
• W2115305202 hasConcept C71924100 @default.
• W2115305202 hasConcept C86803240 @default.
• W2115305202 hasConceptScore W2115305202C104317684 @default.
• W2115305202 hasConceptScore W2115305202C142724271 @default.
• W2115305202 hasConceptScore W2115305202C143065580 @default.
• W2115305202 hasConceptScore W2115305202C153911025 @default.
• W2115305202 hasConceptScore W2115305202C169760540 @default.
• W2115305202 hasConceptScore W2115305202C189978740 @default.
• W2115305202 hasConceptScore W2115305202C2778559928 @default.
• W2115305202 hasConceptScore W2115305202C2778868616 @default.
• W2115305202 hasConceptScore W2115305202C2779134260 @default.
• W2115305202 hasConceptScore W2115305202C2779248548 @default.
• W2115305202 hasConceptScore W2115305202C2779734285 @default.
• W2115305202 hasConceptScore W2115305202C2780405171 @default.
• W2115305202 hasConceptScore W2115305202C501734568 @default.
• W2115305202 hasConceptScore W2115305202C54355233 @default.
• W2115305202 hasConceptScore W2115305202C71924100 @default.
• W2115305202 hasConceptScore W2115305202C86803240 @default.
• W2115305202 hasIssue "6" @default.
• W2115305202 hasLocation W21153052021 @default.

• next