FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3197395786> ?p ?o ?g. }

• W3197395786 abstract "We proposed that the deficit of ACC1 is the cause of patient symptoms including global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. We evaluated the possible disease-causing role of the ACACA gene in developmental delay and investigated the pathogenesis of ACC1 deficiency.A patient who presented with global developmental delay with unknown cause was recruited. Detailed medical records were collected and reviewed. Whole exome sequencing found two variants of ACACA with unknown significance. ACC1 mRNA expression level, protein expression level, and enzyme activity level were detected in patient-derived cells. Lipidomic analysis, and in vitro functional studies including cell proliferation, apoptosis, and the migratory ability of patient-derived cells were evaluated to investigate the possible pathogenic mechanism of ACC1 deficiency. RNAi-induced ACC1 deficiency fibroblasts were established to assess the causative role of ACC1 deficit in cell migratory disability in patient-derived cells. Palmitate supplementation assays were performed to assess the effect of palmitic acid on ACC1 deficiency-induced cell motility deficit.The patient presented with global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. A decreased level of ACC1 and ACC1 enzyme activity were detected in patient-derived lymphocytes. Lipidomic profiles revealed a disruption in the lipid homeostasis of the patient-derived cell lines. In vitro functional studies revealed a deficit of cell motility in patient-derived cells and the phenotype was further recapitulated in ACC1-knockdown (KD) fibroblasts. The cell motility deficit in both patient-derived cells and ACC1-KD were attenuated by palmitate.We report an individual with biallelic mutations in ACACA, presenting global development delay. In vitro studies revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate." @default.
• W3197395786 created "2021-09-13" @default.
• W3197395786 creator A5000935482 @default.
• W3197395786 creator A5006210028 @default.
• W3197395786 creator A5027024676 @default.
• W3197395786 creator A5033069020 @default.
• W3197395786 creator A5051385629 @default.
• W3197395786 creator A5052909150 @default.
• W3197395786 creator A5060139675 @default.
• W3197395786 creator A5062097685 @default.
• W3197395786 creator A5063767613 @default.
• W3197395786 creator A5069629569 @default.
• W3197395786 creator A5081786665 @default.
• W3197395786 creator A5091548233 @default.
• W3197395786 date "2021-09-06" @default.
• W3197395786 modified "2023-10-16" @default.
• W3197395786 title "Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features" @default.
• W3197395786 cites W119447525 @default.
• W3197395786 cites W1581720798 @default.
• W3197395786 cites W1607894141 @default.
• W3197395786 cites W163303422 @default.
• W3197395786 cites W1808711893 @default.
• W3197395786 cites W1965671023 @default.
• W3197395786 cites W1970413157 @default.
• W3197395786 cites W1982126966 @default.
• W3197395786 cites W1997824873 @default.
• W3197395786 cites W2007486805 @default.
• W3197395786 cites W2016761322 @default.
• W3197395786 cites W2018580411 @default.
• W3197395786 cites W2024405748 @default.
• W3197395786 cites W2051978340 @default.
• W3197395786 cites W2059145105 @default.
• W3197395786 cites W2089273478 @default.
• W3197395786 cites W2090415246 @default.
• W3197395786 cites W2092537435 @default.
• W3197395786 cites W2098583905 @default.
• W3197395786 cites W2122732537 @default.
• W3197395786 cites W2137832556 @default.
• W3197395786 cites W2141637710 @default.
• W3197395786 cites W2143486069 @default.
• W3197395786 cites W2146607058 @default.
• W3197395786 cites W2148091599 @default.
• W3197395786 cites W2149580316 @default.
• W3197395786 cites W2150239807 @default.
• W3197395786 cites W2159266328 @default.
• W3197395786 cites W2190636336 @default.
• W3197395786 cites W2195303995 @default.
• W3197395786 cites W2197721327 @default.
• W3197395786 cites W2611949588 @default.
• W3197395786 cites W2706387899 @default.
• W3197395786 cites W2765921352 @default.
• W3197395786 cites W2767005279 @default.
• W3197395786 cites W2773870182 @default.
• W3197395786 cites W2800856783 @default.
• W3197395786 cites W2888266208 @default.
• W3197395786 cites W2901576510 @default.
• W3197395786 cites W2938629106 @default.
• W3197395786 cites W2971535365 @default.
• W3197395786 cites W2983394854 @default.
• W3197395786 cites W2990435446 @default.
• W3197395786 cites W49060787 @default.
• W3197395786 doi "https://doi.org/10.3389/fcell.2021.618492" @default.
• W3197395786 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8450402" @default.
• W3197395786 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34552920" @default.
• W3197395786 hasPublicationYear "2021" @default.
• W3197395786 type Work @default.
• W3197395786 sameAs 3197395786 @default.
• W3197395786 citedByCount "4" @default.
• W3197395786 countsByYear W31973957862022 @default.
• W3197395786 countsByYear W31973957862023 @default.
• W3197395786 crossrefType "journal-article" @default.
• W3197395786 hasAuthorship W3197395786A5000935482 @default.
• W3197395786 hasAuthorship W3197395786A5006210028 @default.
• W3197395786 hasAuthorship W3197395786A5027024676 @default.
• W3197395786 hasAuthorship W3197395786A5033069020 @default.
• W3197395786 hasAuthorship W3197395786A5051385629 @default.
• W3197395786 hasAuthorship W3197395786A5052909150 @default.
• W3197395786 hasAuthorship W3197395786A5060139675 @default.
• W3197395786 hasAuthorship W3197395786A5062097685 @default.
• W3197395786 hasAuthorship W3197395786A5063767613 @default.
• W3197395786 hasAuthorship W3197395786A5069629569 @default.
• W3197395786 hasAuthorship W3197395786A5081786665 @default.
• W3197395786 hasAuthorship W3197395786A5091548233 @default.
• W3197395786 hasBestOaLocation W31973957861 @default.
• W3197395786 hasConcept C104317684 @default.
• W3197395786 hasConcept C127716648 @default.
• W3197395786 hasConcept C173396325 @default.
• W3197395786 hasConcept C2776395126 @default.
• W3197395786 hasConcept C2779546488 @default.
• W3197395786 hasConcept C2779674439 @default.
• W3197395786 hasConcept C54355233 @default.
• W3197395786 hasConcept C60644358 @default.
• W3197395786 hasConcept C81885089 @default.
• W3197395786 hasConcept C86803240 @default.
• W3197395786 hasConcept C95444343 @default.
• W3197395786 hasConceptScore W3197395786C104317684 @default.
• W3197395786 hasConceptScore W3197395786C127716648 @default.
• W3197395786 hasConceptScore W3197395786C173396325 @default.
• W3197395786 hasConceptScore W3197395786C2776395126 @default.
• W3197395786 hasConceptScore W3197395786C2779546488 @default.

• next