Matches in SemOpenAlex for { <https://semopenalex.org/work/W2149785891> ?p ?o ?g. }
- W2149785891 endingPage "90" @default.
- W2149785891 startingPage "85" @default.
- W2149785891 abstract "The contribution of genetic factors to the pathogenesis of Parkinson's disease (PD) is supported by the demonstration of the high concordance in twins studies using positron emission tomography (PET), the increased risk among relatives of PD patients in case–control and family studies, and the existence of familial PD and parkinsonism by single gene defect. Recently several genes have been mapped and/or identified. α‐Synuclein is involved in a rare dominant form of familial PD with dopa‐responsive parkinsonism features and Lewy body‐positive pathology. In contrast, parkin is responsible for the autosomal recessive form (AR‐JP) of early onset PD with Lewy body‐negative pathology. The clinical features of this form include early onset (in the 20s), levodopa‐responsive parkinsonism, diurnal fluctuation, and slow progression of the disease. Parkin consists of 12 exons and the estimated size is over 1.5 Mb. To date, variable mutations such as deletions or point mutations resulting in missense and nonsense changes have been reported in AR‐JP patients. In addition, the localization of parkin indicates that parkin may be involved in the axonal transport system. More recently we have found that parkin interacts with the ubiquitin‐conjugating enzyme E2 and is functionally linked to the Ub‐proteasome pathway as a ubiquitin ligase, E3. These findings fit the characteristics of a lack of Lewy bodies (these are cytoplasmic inclusions that are considered to be a pathological hallmark). Our findings should enhance the exploration of the mechanisms of neuronal death in PD as well as other neurodegenerative disorders of which variable inclusion bodies are observed." @default.
- W2149785891 created "2016-06-24" @default.
- W2149785891 creator A5014705038 @default.
- W2149785891 creator A5025748633 @default.
- W2149785891 creator A5035322817 @default.
- W2149785891 creator A5053544869 @default.
- W2149785891 creator A5055949941 @default.
- W2149785891 creator A5057857434 @default.
- W2149785891 creator A5072673518 @default.
- W2149785891 creator A5077439573 @default.
- W2149785891 creator A5077625948 @default.
- W2149785891 creator A5082083783 @default.
- W2149785891 creator A5084716950 @default.
- W2149785891 date "2000-09-01" @default.
- W2149785891 modified "2023-10-18" @default.
- W2149785891 title "Autosomal recessive juvenile parkinsonism: A key to understanding nigral degeneration in sporadic Parkinson's disease" @default.
- W2149785891 cites W1511517753 @default.
- W2149785891 cites W1550876205 @default.
- W2149785891 cites W1618846043 @default.
- W2149785891 cites W1877873625 @default.
- W2149785891 cites W1965111825 @default.
- W2149785891 cites W1966798983 @default.
- W2149785891 cites W1983951782 @default.
- W2149785891 cites W1988457275 @default.
- W2149785891 cites W1991930087 @default.
- W2149785891 cites W2005406723 @default.
- W2149785891 cites W2008005122 @default.
- W2149785891 cites W2009270310 @default.
- W2149785891 cites W2013558716 @default.
- W2149785891 cites W2036058336 @default.
- W2149785891 cites W2075170646 @default.
- W2149785891 cites W2076100769 @default.
- W2149785891 cites W2077400178 @default.
- W2149785891 cites W2113507118 @default.
- W2149785891 cites W2117335809 @default.
- W2149785891 cites W2121781216 @default.
- W2149785891 cites W2123052357 @default.
- W2149785891 cites W2129975909 @default.
- W2149785891 cites W2139638246 @default.
- W2149785891 cites W2150656456 @default.
- W2149785891 cites W2158674636 @default.
- W2149785891 cites W2166987747 @default.
- W2149785891 cites W2178503716 @default.
- W2149785891 cites W2473580629 @default.
- W2149785891 cites W4375906958 @default.
- W2149785891 doi "https://doi.org/10.1046/j.1440-1789.2000.00312.x" @default.
- W2149785891 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11037196" @default.
- W2149785891 hasPublicationYear "2000" @default.
- W2149785891 type Work @default.
- W2149785891 sameAs 2149785891 @default.
- W2149785891 citedByCount "31" @default.
- W2149785891 countsByYear W21497858912013 @default.
- W2149785891 countsByYear W21497858912014 @default.
- W2149785891 countsByYear W21497858912015 @default.
- W2149785891 countsByYear W21497858912016 @default.
- W2149785891 countsByYear W21497858912019 @default.
- W2149785891 countsByYear W21497858912021 @default.
- W2149785891 countsByYear W21497858912022 @default.
- W2149785891 crossrefType "journal-article" @default.
- W2149785891 hasAuthorship W2149785891A5014705038 @default.
- W2149785891 hasAuthorship W2149785891A5025748633 @default.
- W2149785891 hasAuthorship W2149785891A5035322817 @default.
- W2149785891 hasAuthorship W2149785891A5053544869 @default.
- W2149785891 hasAuthorship W2149785891A5055949941 @default.
- W2149785891 hasAuthorship W2149785891A5057857434 @default.
- W2149785891 hasAuthorship W2149785891A5072673518 @default.
- W2149785891 hasAuthorship W2149785891A5077439573 @default.
- W2149785891 hasAuthorship W2149785891A5077625948 @default.
- W2149785891 hasAuthorship W2149785891A5082083783 @default.
- W2149785891 hasAuthorship W2149785891A5084716950 @default.
- W2149785891 hasConcept C142724271 @default.
- W2149785891 hasConcept C169760540 @default.
- W2149785891 hasConcept C2776525014 @default.
- W2149785891 hasConcept C2777668072 @default.
- W2149785891 hasConcept C2779097696 @default.
- W2149785891 hasConcept C2779134260 @default.
- W2149785891 hasConcept C2779734285 @default.
- W2149785891 hasConcept C54355233 @default.
- W2149785891 hasConcept C71924100 @default.
- W2149785891 hasConcept C86803240 @default.
- W2149785891 hasConceptScore W2149785891C142724271 @default.
- W2149785891 hasConceptScore W2149785891C169760540 @default.
- W2149785891 hasConceptScore W2149785891C2776525014 @default.
- W2149785891 hasConceptScore W2149785891C2777668072 @default.
- W2149785891 hasConceptScore W2149785891C2779097696 @default.
- W2149785891 hasConceptScore W2149785891C2779134260 @default.
- W2149785891 hasConceptScore W2149785891C2779734285 @default.
- W2149785891 hasConceptScore W2149785891C54355233 @default.
- W2149785891 hasConceptScore W2149785891C71924100 @default.
- W2149785891 hasConceptScore W2149785891C86803240 @default.
- W2149785891 hasIssue "s1" @default.
- W2149785891 hasLocation W21497858911 @default.
- W2149785891 hasLocation W21497858912 @default.
- W2149785891 hasOpenAccess W2149785891 @default.
- W2149785891 hasPrimaryLocation W21497858911 @default.
- W2149785891 hasRelatedWork W1631602692 @default.
- W2149785891 hasRelatedWork W1969829622 @default.
- W2149785891 hasRelatedWork W2082550881 @default.