FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2511889916> ?p ?o ?g. }

• W2511889916 endingPage "778" @default.
• W2511889916 startingPage "772" @default.
• W2511889916 abstract "Abstract Huntington's disease (HD) is caused by a CAG‐repeat encoding a polyglutamine (polyQ) tract in the huntingtin protein. There is plenty of evidence of polyQ‐driven toxicity. However, CAG repeat RNA‐driven alteration of splicing has recently been proposed in analogy to CUG‐repeat diseases. Here we review the reported alteration of the CAG‐repeat associated splicing factor SRSF6 in brains of HD patients and mouse models and how this correlates with altered splicing of, at least, two microtubule‐associated proteins in HD, namely MAPT (tau) and MAP2. Regarding tau, altered splicing of exon 10 has been reported, along with increased levels and 4R/3R‐tau ratio and detection of tau in a new nuclear rod‐shaped histopathological hallmark termed tau nuclear rod (TNR) or tau nuclear indentation (TNI). These findings, together with an attenuation of HD phenotype in R6/1 mice with tau deficiency and subsequent studies showing increased phosphorylation in mouse models and increased levels in CSF of patients, has led to proposing HD as a tauopathy. Regarding MAP2, an increase in its juvenile form and a decrease in total MAP2 together with redistribution from dendrites to soma is observed in HD patients, which may contribute to the dendritic atrophy in HD. Furthermore, MAP2 positive structures filling nuclear indentations have occasionally been found and co‐localized with tau. Therefore, altered MAP function with imbalance in tau/MAP2 content could contribute to HD striatal atrophy and dysfunction. Besides, TNIs might be indicative of such MAP abnormalities. TNIs are also found in early pathology Alzheimer's disease and in tauopathy mice over‐expressing mutant 4R‐tau. This indicates that tau alteration is sufficient for TNI detection, which becomes a marker of increased total tau and/or altered 4R/3R‐tau ratio and reporter of pathology‐associated nuclear indentations. Altogether, these recent studies suggest that correcting the SRSF6‐driven missplicing and/or microtubule‐associated imbalance might be of therapeutic value in HD." @default.
• W2511889916 created "2016-09-16" @default.
• W2511889916 creator A5005991008 @default.
• W2511889916 creator A5019340831 @default.
• W2511889916 creator A5036010026 @default.
• W2511889916 creator A5084691625 @default.
• W2511889916 creator A5087215597 @default.
• W2511889916 date "2016-11-01" @default.
• W2511889916 modified "2023-09-27" @default.
• W2511889916 title "Faulty splicing and cytoskeleton abnormalities in Huntington's disease" @default.
• W2511889916 cites W1481321944 @default.
• W2511889916 cites W1509279614 @default.
• W2511889916 cites W1511517753 @default.
• W2511889916 cites W1533601163 @default.
• W2511889916 cites W1578515047 @default.
• W2511889916 cites W1905860502 @default.
• W2511889916 cites W1906905763 @default.
• W2511889916 cites W1966773848 @default.
• W2511889916 cites W1975715530 @default.
• W2511889916 cites W1978275790 @default.
• W2511889916 cites W1984734754 @default.
• W2511889916 cites W1984945434 @default.
• W2511889916 cites W1988883008 @default.
• W2511889916 cites W1990372895 @default.
• W2511889916 cites W1991909451 @default.
• W2511889916 cites W1994030229 @default.
• W2511889916 cites W1999578663 @default.
• W2511889916 cites W2008561777 @default.
• W2511889916 cites W2008681748 @default.
• W2511889916 cites W2014194703 @default.
• W2511889916 cites W2021399948 @default.
• W2511889916 cites W2022764592 @default.
• W2511889916 cites W2023777324 @default.
• W2511889916 cites W2029979788 @default.
• W2511889916 cites W2031460875 @default.
• W2511889916 cites W2032105688 @default.
• W2511889916 cites W2036150908 @default.
• W2511889916 cites W2057886219 @default.
• W2511889916 cites W2067211481 @default.
• W2511889916 cites W2076791245 @default.
• W2511889916 cites W2076843567 @default.
• W2511889916 cites W2079520339 @default.
• W2511889916 cites W2081868255 @default.
• W2511889916 cites W2081943776 @default.
• W2511889916 cites W2082623267 @default.
• W2511889916 cites W2088489316 @default.
• W2511889916 cites W2095099413 @default.
• W2511889916 cites W2099643329 @default.
• W2511889916 cites W2101699102 @default.
• W2511889916 cites W2107561064 @default.
• W2511889916 cites W2107749596 @default.
• W2511889916 cites W2108570063 @default.
• W2511889916 cites W2108756893 @default.
• W2511889916 cites W2112001810 @default.
• W2511889916 cites W2121642311 @default.
• W2511889916 cites W2126877059 @default.
• W2511889916 cites W2127377195 @default.
• W2511889916 cites W2131832714 @default.
• W2511889916 cites W2143113288 @default.
• W2511889916 cites W2150920976 @default.
• W2511889916 cites W2164136371 @default.
• W2511889916 cites W2166555967 @default.
• W2511889916 cites W2173145139 @default.
• W2511889916 cites W2301427352 @default.
• W2511889916 cites W2340337868 @default.
• W2511889916 cites W2470063159 @default.
• W2511889916 cites W2473326328 @default.
• W2511889916 cites W4206144694 @default.
• W2511889916 cites W4238839969 @default.
• W2511889916 cites W4362221370 @default.
• W2511889916 cites W47608607 @default.
• W2511889916 cites W2083734153 @default.
• W2511889916 doi "https://doi.org/10.1111/bpa.12430" @default.
• W2511889916 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8028924" @default.
• W2511889916 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27529534" @default.
• W2511889916 hasPublicationYear "2016" @default.
• W2511889916 type Work @default.
• W2511889916 sameAs 2511889916 @default.
• W2511889916 citedByCount "25" @default.
• W2511889916 countsByYear W25118899162016 @default.
• W2511889916 countsByYear W25118899162017 @default.
• W2511889916 countsByYear W25118899162018 @default.
• W2511889916 countsByYear W25118899162019 @default.
• W2511889916 countsByYear W25118899162020 @default.
• W2511889916 countsByYear W25118899162021 @default.
• W2511889916 countsByYear W25118899162022 @default.
• W2511889916 countsByYear W25118899162023 @default.
• W2511889916 crossrefType "journal-article" @default.
• W2511889916 hasAuthorship W2511889916A5005991008 @default.
• W2511889916 hasAuthorship W2511889916A5019340831 @default.
• W2511889916 hasAuthorship W2511889916A5036010026 @default.
• W2511889916 hasAuthorship W2511889916A5084691625 @default.
• W2511889916 hasAuthorship W2511889916A5087215597 @default.
• W2511889916 hasBestOaLocation W25118899162 @default.
• W2511889916 hasConcept C104317684 @default.
• W2511889916 hasConcept C142724271 @default.
• W2511889916 hasConcept C153911025 @default.
• W2511889916 hasConcept C166252455 @default.

• next