FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2507780420> ?p ?o ?g. }

• W2507780420 endingPage "1703" @default.
• W2507780420 startingPage "1694" @default.
• W2507780420 abstract "ABSTRACT Background Myoclonus‐dystonia is a neurogenic movement disorder caused by mutations in the gene encoding ɛ‐sarcoglycan. By contrast, mutations in the α‐, β‐, γ‐, and δ‐sarcoglycan genes cause limb girdle muscular dystrophies. The sarcoglycans are part of the dystrophin‐associated protein complex in muscle that is disrupted in several types of muscular dystrophy. Intriguingly, patients with myoclonus‐dystonia have no muscle pathology; conversely, limb‐girdle muscular dystrophy patients have not been reported to have dystonia‐associated features. To gain further insight into the molecular mechanisms underlying these differences, we searched for evidence of a sarcoglycan complex in the brain. Methods Immunoaffinity chromatography and mass spectrometry were used to purify ubiquitous and brain‐specific ɛ‐sarcoglycan directly from tissue. Cell models were used to determine the effect of mutations on the trafficking and assembly of the brain sarcoglycan complex. Results Ubiquitous and brain‐specific ɛ‐sarcoglycan isoforms copurify with β‐, δ‐, and ζ‐sarcoglycan, β‐dystroglycan, and dystrophin Dp71 from brain. Incorporation of a muscular dystrophy‐associated β‐sarcoglycan mutant into the brain sarcoglycan complex impairs the formation of the βδ‐sarcoglycan core but fails to abrogate the association and membrane trafficking of ɛ‐ and ζ‐sarcoglycan. Conclusions ɛ‐Sarcoglycan is part of the dystrophin‐associated protein complex in brain. Partial preservation of ɛ‐ and ζ‐sarcoglycan in brain may explain the absence of myoclonus dystonia‐like features in muscular dystrophy patients. © 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society." @default.
• W2507780420 created "2016-09-16" @default.
• W2507780420 creator A5063915267 @default.
• W2507780420 creator A5065438352 @default.
• W2507780420 creator A5077627550 @default.
• W2507780420 creator A5057011511 @default.
• W2507780420 date "2016-08-18" @default.
• W2507780420 modified "2023-10-16" @default.
• W2507780420 title "Myoclonus dystonia and muscular dystrophy: ɛ‐sarcoglycan is part of the dystrophin‐associated protein complex in brain" @default.
• W2507780420 cites W1490093678 @default.
• W2507780420 cites W1494261909 @default.
• W2507780420 cites W1600589392 @default.
• W2507780420 cites W1891414773 @default.
• W2507780420 cites W1975107352 @default.
• W2507780420 cites W1978799741 @default.
• W2507780420 cites W1979901925 @default.
• W2507780420 cites W1988677978 @default.
• W2507780420 cites W1989163468 @default.
• W2507780420 cites W1994485685 @default.
• W2507780420 cites W1996010358 @default.
• W2507780420 cites W2000141534 @default.
• W2507780420 cites W2000575653 @default.
• W2507780420 cites W2009330986 @default.
• W2507780420 cites W2015407064 @default.
• W2507780420 cites W2017719480 @default.
• W2507780420 cites W2023960386 @default.
• W2507780420 cites W2026962372 @default.
• W2507780420 cites W2029956592 @default.
• W2507780420 cites W2031806916 @default.
• W2507780420 cites W2032434406 @default.
• W2507780420 cites W2036052128 @default.
• W2507780420 cites W2044125776 @default.
• W2507780420 cites W2045852449 @default.
• W2507780420 cites W2048389811 @default.
• W2507780420 cites W2057989042 @default.
• W2507780420 cites W2061808607 @default.
• W2507780420 cites W2066133198 @default.
• W2507780420 cites W2067498074 @default.
• W2507780420 cites W2068600166 @default.
• W2507780420 cites W2071803581 @default.
• W2507780420 cites W2072288907 @default.
• W2507780420 cites W2074674462 @default.
• W2507780420 cites W2076570906 @default.
• W2507780420 cites W2086546094 @default.
• W2507780420 cites W2088314766 @default.
• W2507780420 cites W2089739401 @default.
• W2507780420 cites W2090885629 @default.
• W2507780420 cites W2095634158 @default.
• W2507780420 cites W2106556204 @default.
• W2507780420 cites W2107703969 @default.
• W2507780420 cites W2112892628 @default.
• W2507780420 cites W2114669518 @default.
• W2507780420 cites W2116901396 @default.
• W2507780420 cites W2119951665 @default.
• W2507780420 cites W2123067244 @default.
• W2507780420 cites W2125179922 @default.
• W2507780420 cites W2125433750 @default.
• W2507780420 cites W2125683839 @default.
• W2507780420 cites W2129278356 @default.
• W2507780420 cites W2130203692 @default.
• W2507780420 cites W2130230941 @default.
• W2507780420 cites W2131134103 @default.
• W2507780420 cites W2143513370 @default.
• W2507780420 cites W2145786618 @default.
• W2507780420 cites W2149190531 @default.
• W2507780420 cites W2150553525 @default.
• W2507780420 cites W2160353348 @default.
• W2507780420 cites W2163495044 @default.
• W2507780420 cites W2171003123 @default.
• W2507780420 cites W2197536693 @default.
• W2507780420 cites W2237721005 @default.
• W2507780420 cites W2301133501 @default.
• W2507780420 cites W2340880118 @default.
• W2507780420 doi "https://doi.org/10.1002/mds.26738" @default.
• W2507780420 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5129563" @default.
• W2507780420 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27535350" @default.
• W2507780420 hasPublicationYear "2016" @default.
• W2507780420 type Work @default.
• W2507780420 sameAs 2507780420 @default.
• W2507780420 citedByCount "19" @default.
• W2507780420 countsByYear W25077804202017 @default.
• W2507780420 countsByYear W25077804202018 @default.
• W2507780420 countsByYear W25077804202019 @default.
• W2507780420 countsByYear W25077804202020 @default.
• W2507780420 countsByYear W25077804202021 @default.
• W2507780420 countsByYear W25077804202022 @default.
• W2507780420 crossrefType "journal-article" @default.
• W2507780420 hasAuthorship W2507780420A5057011511 @default.
• W2507780420 hasAuthorship W2507780420A5063915267 @default.
• W2507780420 hasAuthorship W2507780420A5065438352 @default.
• W2507780420 hasAuthorship W2507780420A5077627550 @default.
• W2507780420 hasBestOaLocation W25077804201 @default.
• W2507780420 hasConcept C104317684 @default.
• W2507780420 hasConcept C142724271 @default.
• W2507780420 hasConcept C1491633281 @default.
• W2507780420 hasConcept C169760540 @default.
• W2507780420 hasConcept C2776538686 @default.
• W2507780420 hasConcept C2778261627 @default.

• next