Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308770045> ?p ?o ?g. }
- W4308770045 endingPage "481" @default.
- W4308770045 startingPage "471" @default.
- W4308770045 abstract "Variant Transthyretin Amyloidosis (ATTRv) neuropathy is an adult-onset, autosomal dominant, lethal, multisystemic disease due to the deposition of mutated transthyretin (TTR) in various organs, commonly involving the peripheral nerves and the heart. Circulating TTR tetramers are unstable due to the presence of mutated TTR and dissociate into monomers, which misfold and form amyloid fibrils. Although there are more than 140 mutations in the TTR gene, the p.Val50Met mutation is by far the commonest. In the typical, early-onset cases, it presents with a small sensory fibre and autonomic, length-dependent, axonal neuropathy, while in late-onset cases, it presents with a lengthdependent sensorimotor axonal neuropathy involving all fibre sizes. Treatment is now available and includes TTR stabilizers, TTR amyloid removal as well as gene silencing, while gene editing therapies are on the way. Its timely diagnosis is of paramount importance for a better prognosis." @default.
- W4308770045 created "2022-11-15" @default.
- W4308770045 creator A5005520068 @default.
- W4308770045 creator A5048983300 @default.
- W4308770045 date "2023-03-01" @default.
- W4308770045 modified "2023-10-12" @default.
- W4308770045 title "Drug and Gene Therapy for Treating Variant Transthyretin Amyloidosis (ATTRv) Neuropathy" @default.
- W4308770045 cites W1555692677 @default.
- W4308770045 cites W1782332202 @default.
- W4308770045 cites W1808439685 @default.
- W4308770045 cites W1965038358 @default.
- W4308770045 cites W1972385206 @default.
- W4308770045 cites W1979704176 @default.
- W4308770045 cites W1980144587 @default.
- W4308770045 cites W1993848195 @default.
- W4308770045 cites W2009082034 @default.
- W4308770045 cites W2019261756 @default.
- W4308770045 cites W2049505629 @default.
- W4308770045 cites W2051390931 @default.
- W4308770045 cites W2075279644 @default.
- W4308770045 cites W2080718344 @default.
- W4308770045 cites W2089019006 @default.
- W4308770045 cites W2095232042 @default.
- W4308770045 cites W2109678074 @default.
- W4308770045 cites W2112429383 @default.
- W4308770045 cites W2117942418 @default.
- W4308770045 cites W2123950122 @default.
- W4308770045 cites W2126501528 @default.
- W4308770045 cites W2131999691 @default.
- W4308770045 cites W2138666552 @default.
- W4308770045 cites W2142822529 @default.
- W4308770045 cites W2148373528 @default.
- W4308770045 cites W2153166537 @default.
- W4308770045 cites W2158907165 @default.
- W4308770045 cites W2166635902 @default.
- W4308770045 cites W2171561339 @default.
- W4308770045 cites W2198986897 @default.
- W4308770045 cites W2264641932 @default.
- W4308770045 cites W2282508430 @default.
- W4308770045 cites W2285981289 @default.
- W4308770045 cites W2319883860 @default.
- W4308770045 cites W2322913813 @default.
- W4308770045 cites W2488839329 @default.
- W4308770045 cites W2551198464 @default.
- W4308770045 cites W2556936900 @default.
- W4308770045 cites W2606356505 @default.
- W4308770045 cites W2606388101 @default.
- W4308770045 cites W2739898475 @default.
- W4308770045 cites W2767810202 @default.
- W4308770045 cites W2774176529 @default.
- W4308770045 cites W2788997515 @default.
- W4308770045 cites W2809989268 @default.
- W4308770045 cites W2810909862 @default.
- W4308770045 cites W2873612930 @default.
- W4308770045 cites W2888036721 @default.
- W4308770045 cites W2903444830 @default.
- W4308770045 cites W2903552105 @default.
- W4308770045 cites W2904994225 @default.
- W4308770045 cites W2905841804 @default.
- W4308770045 cites W2911689322 @default.
- W4308770045 cites W2912435333 @default.
- W4308770045 cites W2913371061 @default.
- W4308770045 cites W2921829640 @default.
- W4308770045 cites W2922218902 @default.
- W4308770045 cites W2945675186 @default.
- W4308770045 cites W2948035253 @default.
- W4308770045 cites W2964257960 @default.
- W4308770045 cites W2968001431 @default.
- W4308770045 cites W2983833521 @default.
- W4308770045 cites W2998016162 @default.
- W4308770045 cites W3009001990 @default.
- W4308770045 cites W3018892538 @default.
- W4308770045 cites W3020612632 @default.
- W4308770045 cites W3037874297 @default.
- W4308770045 cites W3038110854 @default.
- W4308770045 cites W3089696587 @default.
- W4308770045 cites W3093386527 @default.
- W4308770045 cites W3106443431 @default.
- W4308770045 cites W3119724520 @default.
- W4308770045 cites W3129976833 @default.
- W4308770045 cites W3177445623 @default.
- W4308770045 cites W3178410932 @default.
- W4308770045 cites W3184808852 @default.
- W4308770045 cites W3196593956 @default.
- W4308770045 cites W3207831903 @default.
- W4308770045 cites W4210460225 @default.
- W4308770045 cites W4214500398 @default.
- W4308770045 doi "https://doi.org/10.2174/1570159x21666221108094736" @default.
- W4308770045 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36366846" @default.
- W4308770045 hasPublicationYear "2023" @default.
- W4308770045 type Work @default.
- W4308770045 citedByCount "3" @default.
- W4308770045 countsByYear W43087700452023 @default.
- W4308770045 crossrefType "journal-article" @default.
- W4308770045 hasAuthorship W4308770045A5005520068 @default.
- W4308770045 hasAuthorship W4308770045A5048983300 @default.
- W4308770045 hasConcept C104317684 @default.
- W4308770045 hasConcept C111599444 @default.