FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2102026369> ?p ?o ?g. }

• W2102026369 endingPage "R162" @default.
• W2102026369 startingPage "R156" @default.
• W2102026369 abstract "Amyotrophic lateral sclerosis (ALS) is the most common adult motor neuron disease that affects approximately 2/100,000 individuals each year worldwide. Patients with ALS suffer from rapidly progressive degeneration of motor neurons ultimately leading to death. The major pathological features observed in post-mortem tissue from patients with ALS are motor neuron loss, cortical spinal tract degeneration, gliosis and cytoplasmic neuronal inclusions formed by TDP-43 or TAR DNA binding Protein with a molecular mass of 43 kDa, which are now recognized as the signature lesions of sporadic ALS. TDP-43 possesses two RNA binding domains (RBD) and a glycine-rich C terminus classifying it with other heterogeneous nuclear ribonucleoproteins known as 2XRBD-Gly proteins. A number of reports showed that a subset of patients with ALS possess mutations in the TDP-43 (TARDBP) gene. This further strengthens the hypotheses that gain of toxic function or loss of function in TDP-43 causes ALS. Currently, 29 different TARDBP missense mutations have been reported in 51 unrelated sporadic or familial ALS cases and two cases of ALS plus concomitant frontotemporal lobar degeneration with a remarkable concentration of mutations in the C-terminal glycine-rich domain of TDP-43. As these mutations will most certainly be an invaluable tool for the design and implementation of ALS animal and cell models, as well as serve as a platform for exploring the pathobiology of TDP-43, here we summarize the identified pathogenic TARDBP mutations and their potential impact on our understanding of the role of TDP-43 in disease." @default.
• W2102026369 created "2016-06-24" @default.
• W2102026369 creator A5021394368 @default.
• W2102026369 creator A5065852445 @default.
• W2102026369 creator A5086467851 @default.
• W2102026369 date "2009-10-06" @default.
• W2102026369 modified "2023-10-05" @default.
• W2102026369 title "Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis" @default.
• W2102026369 cites W1555039620 @default.
• W2102026369 cites W1608884577 @default.
• W2102026369 cites W1619082318 @default.
• W2102026369 cites W1964177214 @default.
• W2102026369 cites W1964538957 @default.
• W2102026369 cites W1966179163 @default.
• W2102026369 cites W1971831106 @default.
• W2102026369 cites W1979313188 @default.
• W2102026369 cites W1979898379 @default.
• W2102026369 cites W1979906352 @default.
• W2102026369 cites W1984145170 @default.
• W2102026369 cites W1984308849 @default.
• W2102026369 cites W1990145006 @default.
• W2102026369 cites W1990215850 @default.
• W2102026369 cites W1991208268 @default.
• W2102026369 cites W1991611976 @default.
• W2102026369 cites W1997809912 @default.
• W2102026369 cites W2000584920 @default.
• W2102026369 cites W2003618511 @default.
• W2102026369 cites W2006897215 @default.
• W2102026369 cites W2015462677 @default.
• W2102026369 cites W2025122795 @default.
• W2102026369 cites W2026931179 @default.
• W2102026369 cites W2031964319 @default.
• W2102026369 cites W2042930414 @default.
• W2102026369 cites W2045962406 @default.
• W2102026369 cites W2059707627 @default.
• W2102026369 cites W2060076138 @default.
• W2102026369 cites W2067652401 @default.
• W2102026369 cites W2074658666 @default.
• W2102026369 cites W2078616043 @default.
• W2102026369 cites W2082127202 @default.
• W2102026369 cites W2090477471 @default.
• W2102026369 cites W2091145925 @default.
• W2102026369 cites W2092646825 @default.
• W2102026369 cites W2096386031 @default.
• W2102026369 cites W2097956925 @default.
• W2102026369 cites W2100111801 @default.
• W2102026369 cites W2101679570 @default.
• W2102026369 cites W2115670698 @default.
• W2102026369 cites W2115672510 @default.
• W2102026369 cites W2117383597 @default.
• W2102026369 cites W2117597459 @default.
• W2102026369 cites W2119996369 @default.
• W2102026369 cites W2121340563 @default.
• W2102026369 cites W2124437615 @default.
• W2102026369 cites W2127861463 @default.
• W2102026369 cites W2133081366 @default.
• W2102026369 cites W2134051267 @default.
• W2102026369 cites W2134408741 @default.
• W2102026369 cites W2136057227 @default.
• W2102026369 cites W2136448211 @default.
• W2102026369 cites W2137021233 @default.
• W2102026369 cites W2137048103 @default.
• W2102026369 cites W2137204877 @default.
• W2102026369 cites W2139267086 @default.
• W2102026369 cites W2140102385 @default.
• W2102026369 cites W2156454183 @default.
• W2102026369 cites W2157123931 @default.
• W2102026369 cites W2157150055 @default.
• W2102026369 cites W2159556459 @default.
• W2102026369 cites W2161938104 @default.
• W2102026369 cites W2162622841 @default.
• W2102026369 doi "https://doi.org/10.1093/hmg/ddp303" @default.
• W2102026369 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2758707" @default.
• W2102026369 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19808791" @default.
• W2102026369 hasPublicationYear "2009" @default.
• W2102026369 type Work @default.
• W2102026369 sameAs 2102026369 @default.
• W2102026369 citedByCount "254" @default.
• W2102026369 countsByYear W21020263692012 @default.
• W2102026369 countsByYear W21020263692013 @default.
• W2102026369 countsByYear W21020263692014 @default.
• W2102026369 countsByYear W21020263692015 @default.
• W2102026369 countsByYear W21020263692016 @default.
• W2102026369 countsByYear W21020263692017 @default.
• W2102026369 countsByYear W21020263692018 @default.
• W2102026369 countsByYear W21020263692019 @default.
• W2102026369 countsByYear W21020263692020 @default.
• W2102026369 countsByYear W21020263692021 @default.
• W2102026369 countsByYear W21020263692022 @default.
• W2102026369 countsByYear W21020263692023 @default.
• W2102026369 crossrefType "journal-article" @default.
• W2102026369 hasAuthorship W2102026369A5021394368 @default.
• W2102026369 hasAuthorship W2102026369A5065852445 @default.
• W2102026369 hasAuthorship W2102026369A5086467851 @default.
• W2102026369 hasBestOaLocation W21020263692 @default.
• W2102026369 hasConcept C104317684 @default.
• W2102026369 hasConcept C142724271 @default.
• W2102026369 hasConcept C143065580 @default.

• next