FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2156890991> ?p ?o ?g. }

• W2156890991 endingPage "389" @default.
• W2156890991 startingPage "377" @default.
• W2156890991 abstract "Background Intermediate‐length cytosine‐adenine‐guanine repeat expansions in the ATXN2 gene (which encodes for A taxin‐2 protein) have been linked to increased risk for motor neurone disease/amyotrophic lateral sclerosis ( ALS ). We screened DNA from cases for which we had post‐mortem brain tissue to enable characterization of the neuropathology associated with this mutation. Methods Polymerase chain reaction and sequencing of DNA from frozen brain tissue on a cohort of 178 amyotrophic lateral sclerosis ( ALS ) autopsy cases from the north of E ngland and 159 controls was performed. This was followed by tinctorial staining and immunohistochemistry (including for A taxin‐2) on selected blocks from ALS cases with intermediate‐length expansions ( ATXN2 ‐ ALS ), sporadic ALS cases and neurologically healthy controls. Results Four ALS cases with intermediate‐length CAG repeat expansions within ATXN2 were identified. One such case also had a mutation of the C9ORF72 gene. All had lower motor neurone depletion, and three out of four cases had transactive response DNA binding protein 43 ( TDP ‐43)‐positive neuronal cytoplasmic inclusions (predominantly skein‐like). No inclusions of aggregated polyglutamine proteins were identified. A taxin‐2 protein expression was largely granular and cytoplasmic with the most prominent staining observed in larger neurones. A taxin‐2 staining was variable both within and between cases, but no staining pattern that was specific for cases with ATXN2 mutations was seen. Conclusions Intermediate expansions of the CAG repeat in ATXN2 are associated with ALS . They are mostly associated with TDP ‐43 proteinopathy, but not with 1 C 2‐positive polyglutamine inclusions. In the nervous system, A taxin‐2 protein expression is predominantly seen in large neurones. There is no consistent histopathological hallmark that is unique to ATXN2 ‐ ALS ." @default.
• W2156890991 created "2016-06-24" @default.
• W2156890991 creator A5015279568 @default.
• W2156890991 creator A5025748762 @default.
• W2156890991 creator A5035247509 @default.
• W2156890991 creator A5042136207 @default.
• W2156890991 creator A5043770015 @default.
• W2156890991 creator A5057685617 @default.
• W2156890991 creator A5080478575 @default.
• W2156890991 creator A5087727224 @default.
• W2156890991 date "2015-07-07" @default.
• W2156890991 modified "2023-10-03" @default.
• W2156890991 title "Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in<i>Ataxin-2</i>does not have 1C2-positive polyglutamine inclusions" @default.
• W2156890991 cites W1853546723 @default.
• W2156890991 cites W1921890141 @default.
• W2156890991 cites W1938843964 @default.
• W2156890991 cites W1964776354 @default.
• W2156890991 cites W1965816119 @default.
• W2156890991 cites W1967106374 @default.
• W2156890991 cites W1969523250 @default.
• W2156890991 cites W1977053165 @default.
• W2156890991 cites W1983335981 @default.
• W2156890991 cites W1983721900 @default.
• W2156890991 cites W1984211087 @default.
• W2156890991 cites W1989463312 @default.
• W2156890991 cites W1992541604 @default.
• W2156890991 cites W1993915028 @default.
• W2156890991 cites W1994524751 @default.
• W2156890991 cites W1995222212 @default.
• W2156890991 cites W1998778692 @default.
• W2156890991 cites W2001683794 @default.
• W2156890991 cites W2009077902 @default.
• W2156890991 cites W2016332933 @default.
• W2156890991 cites W2020611231 @default.
• W2156890991 cites W2025413109 @default.
• W2156890991 cites W2026738375 @default.
• W2156890991 cites W2032429337 @default.
• W2156890991 cites W2053362200 @default.
• W2156890991 cites W2055456084 @default.
• W2156890991 cites W2057479270 @default.
• W2156890991 cites W2058470791 @default.
• W2156890991 cites W2058543711 @default.
• W2156890991 cites W2065219073 @default.
• W2156890991 cites W2065516118 @default.
• W2156890991 cites W2066002405 @default.
• W2156890991 cites W2068096553 @default.
• W2156890991 cites W2068845666 @default.
• W2156890991 cites W2070907072 @default.
• W2156890991 cites W2071732376 @default.
• W2156890991 cites W2072981065 @default.
• W2156890991 cites W2074726646 @default.
• W2156890991 cites W2076430203 @default.
• W2156890991 cites W2076535829 @default.
• W2156890991 cites W2086245307 @default.
• W2156890991 cites W2092145129 @default.
• W2156890991 cites W2093982999 @default.
• W2156890991 cites W2100440853 @default.
• W2156890991 cites W2101042581 @default.
• W2156890991 cites W2101046354 @default.
• W2156890991 cites W2101747555 @default.
• W2156890991 cites W2104692716 @default.
• W2156890991 cites W2108191354 @default.
• W2156890991 cites W2108621779 @default.
• W2156890991 cites W2109646678 @default.
• W2156890991 cites W2113333419 @default.
• W2156890991 cites W2115291879 @default.
• W2156890991 cites W2118522375 @default.
• W2156890991 cites W2120469195 @default.
• W2156890991 cites W2122047581 @default.
• W2156890991 cites W2136949432 @default.
• W2156890991 cites W2138207816 @default.
• W2156890991 cites W2138543778 @default.
• W2156890991 cites W2144335042 @default.
• W2156890991 cites W2150523249 @default.
• W2156890991 cites W2154945114 @default.
• W2156890991 cites W2155611657 @default.
• W2156890991 cites W2155929657 @default.
• W2156890991 cites W2156236044 @default.
• W2156890991 cites W2159400623 @default.
• W2156890991 cites W2401722928 @default.
• W2156890991 cites W4211170994 @default.
• W2156890991 doi "https://doi.org/10.1111/nan.12254" @default.
• W2156890991 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26095883" @default.
• W2156890991 hasPublicationYear "2015" @default.
• W2156890991 type Work @default.
• W2156890991 sameAs 2156890991 @default.
• W2156890991 citedByCount "7" @default.
• W2156890991 countsByYear W21568909912016 @default.
• W2156890991 countsByYear W21568909912018 @default.
• W2156890991 countsByYear W21568909912019 @default.
• W2156890991 countsByYear W21568909912020 @default.
• W2156890991 countsByYear W21568909912022 @default.
• W2156890991 crossrefType "journal-article" @default.
• W2156890991 hasAuthorship W2156890991A5015279568 @default.
• W2156890991 hasAuthorship W2156890991A5025748762 @default.
• W2156890991 hasAuthorship W2156890991A5035247509 @default.
• W2156890991 hasAuthorship W2156890991A5042136207 @default.
• W2156890991 hasAuthorship W2156890991A5043770015 @default.

• next