FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2783654188> ?p ?o ?g. }

• W2783654188 endingPage "282" @default.
• W2783654188 startingPage "269" @default.
• W2783654188 abstract "Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. We hypothesized that sarcomeric dysfunction contributes to muscle weakness in NEM3 patients.To test this hypothesis, we performed contractility measurements in individual muscle fibers and myofibrils obtained from muscle biopsies of 14 NEM3 patients with different ACTA1 mutations. To identify the structural basis for impaired contractility, low angle X-ray diffraction and stimulated emission-depletion microscopy were applied.Our findings reveal that muscle fibers of NEM3 patients display a reduced maximal force-generating capacity, which is caused by dysfunctional sarcomere contractility in the majority of patients, as revealed by contractility measurements in myofibrils. Low angle X-ray diffraction and stimulated emission-depletion microscopy indicate that dysfunctional sarcomere contractility in NEM3 patients involves a lower number of myosin heads binding to actin during muscle activation. This lower number is not the result of reduced thin filament length. Interestingly, the calcium sensitivity of force is unaffected in some patients, but decreased in others.Dysfunctional sarcomere contractility is an important contributor to muscle weakness in the majority of NEM3 patients. This information is crucial for patient stratification in future clinical trials. Ann Neurol 2018;83:269-282." @default.
• W2783654188 created "2018-01-26" @default.
• W2783654188 creator A5000707958 @default.
• W2783654188 creator A5021172219 @default.
• W2783654188 creator A5026256112 @default.
• W2783654188 creator A5026763053 @default.
• W2783654188 creator A5027139411 @default.
• W2783654188 creator A5028046659 @default.
• W2783654188 creator A5030294560 @default.
• W2783654188 creator A5035276994 @default.
• W2783654188 creator A5036119119 @default.
• W2783654188 creator A5051531603 @default.
• W2783654188 creator A5056568766 @default.
• W2783654188 creator A5063877255 @default.
• W2783654188 creator A5068373124 @default.
• W2783654188 creator A5076833896 @default.
• W2783654188 creator A5080243822 @default.
• W2783654188 creator A5085445693 @default.
• W2783654188 creator A5085859290 @default.
• W2783654188 creator A5088317241 @default.
• W2783654188 date "2018-02-01" @default.
• W2783654188 modified "2023-10-16" @default.
• W2783654188 title "Dysfunctional sarcomere contractility contributes to muscle weakness in <i>ACTA1</i> -related nemaline myopathy (NEM3)" @default.
• W2783654188 cites W1588665322 @default.
• W2783654188 cites W1863429598 @default.
• W2783654188 cites W1912712948 @default.
• W2783654188 cites W1924983339 @default.
• W2783654188 cites W1969261966 @default.
• W2783654188 cites W1970591745 @default.
• W2783654188 cites W1973202003 @default.
• W2783654188 cites W1974374358 @default.
• W2783654188 cites W1979486745 @default.
• W2783654188 cites W1981870699 @default.
• W2783654188 cites W1987839539 @default.
• W2783654188 cites W1990822766 @default.
• W2783654188 cites W1991123861 @default.
• W2783654188 cites W1992366927 @default.
• W2783654188 cites W2001880605 @default.
• W2783654188 cites W2011455273 @default.
• W2783654188 cites W2015642465 @default.
• W2783654188 cites W2019094344 @default.
• W2783654188 cites W2019148061 @default.
• W2783654188 cites W2041692444 @default.
• W2783654188 cites W2055960463 @default.
• W2783654188 cites W2059929368 @default.
• W2783654188 cites W2068417268 @default.
• W2783654188 cites W2069677996 @default.
• W2783654188 cites W2076816803 @default.
• W2783654188 cites W2081884411 @default.
• W2783654188 cites W2087200888 @default.
• W2783654188 cites W2089884738 @default.
• W2783654188 cites W2092436786 @default.
• W2783654188 cites W2092824219 @default.
• W2783654188 cites W2092936803 @default.
• W2783654188 cites W2093842293 @default.
• W2783654188 cites W2095417854 @default.
• W2783654188 cites W2103347055 @default.
• W2783654188 cites W2110678536 @default.
• W2783654188 cites W2112579611 @default.
• W2783654188 cites W2113172898 @default.
• W2783654188 cites W2124077952 @default.
• W2783654188 cites W2127882689 @default.
• W2783654188 cites W2131809876 @default.
• W2783654188 cites W2138475139 @default.
• W2783654188 cites W2140040046 @default.
• W2783654188 cites W2143632411 @default.
• W2783654188 cites W2144170321 @default.
• W2783654188 cites W2144340773 @default.
• W2783654188 cites W2153744832 @default.
• W2783654188 cites W2156585263 @default.
• W2783654188 cites W2158023235 @default.
• W2783654188 cites W2161375436 @default.
• W2783654188 cites W2161431707 @default.
• W2783654188 cites W2166627009 @default.
• W2783654188 cites W2171078557 @default.
• W2783654188 cites W2276707926 @default.
• W2783654188 cites W2331086440 @default.
• W2783654188 cites W2342849542 @default.
• W2783654188 cites W2508080399 @default.
• W2783654188 cites W2518754026 @default.
• W2783654188 cites W2523730134 @default.
• W2783654188 cites W2566928799 @default.
• W2783654188 cites W2567462919 @default.
• W2783654188 cites W2625878522 @default.
• W2783654188 doi "https://doi.org/10.1002/ana.25144" @default.
• W2783654188 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5821533" @default.
• W2783654188 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29328520" @default.
• W2783654188 hasPublicationYear "2018" @default.
• W2783654188 type Work @default.
• W2783654188 sameAs 2783654188 @default.
• W2783654188 citedByCount "21" @default.
• W2783654188 countsByYear W27836541882018 @default.
• W2783654188 countsByYear W27836541882019 @default.
• W2783654188 countsByYear W27836541882020 @default.
• W2783654188 countsByYear W27836541882021 @default.
• W2783654188 countsByYear W27836541882022 @default.
• W2783654188 countsByYear W27836541882023 @default.
• W2783654188 crossrefType "journal-article" @default.

• next