FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912248848> ?p ?o ?g. }

• W2912248848 endingPage "229" @default.
• W2912248848 startingPage "223" @default.
• W2912248848 abstract "Background and aims Autosomal recessive hypercholesterolemia (ARH) is a rare disorder caused by mutations in LDLRAP1, which impairs internalization of hepatic LDL receptor (LDLR). ARH patients respond relatively well to statins or the combination of statins and Ezetimibe, but scarce and variable data on treatment with PCSK9 inhibitors is available. We aimed to identify and characterize the defect in a hypercholesterolemic patient with premature cardiovascular disease and determine the response to lipid-lowering treatment. Methods and results Gene sequencing revealed a homozygous c.1A > G:p.? variant in LDLRAP1. Primary lymphocytes were isolated from the ARH patient, one control and two LDLR-defective subjects, one LDLR:p.(Cys352Ser) heterozygote and one LDLR:p.(Asn825Lys) homozygote. The patient had undetectable full-length ARH protein by Western blotting, but expressed a lower-than-normal molecular weight peptide. LDLR activity was measured by flow cytometry, which showed that LDL binding and uptake were reduced in lymphocytes from the ARH patient as compared to control lymphocytes, but were slightly higher than in those from the LDLR:p.(Cys352Ser) heterozygote. Despite the analogous internalization defect predicted in ARH and homozygous LDLR:p.(Asn825Lys) lymphocytes, LDL uptake was higher in the former than in the latter. LDL-cholesterol levels were markedly reduced by the successive therapy with Atorvastatin and Atorvastatin plus Ezetimibe, and the addition of Evolocumab biweekly decreased LDL-cholesterol by a further 39%. Conclusions The LDLRAP1:c.1A > G variant is associated with the appearance of an N-terminal truncated ARH protein and to reduced, although still significant, LDLR activity in lymphocytes. Residual LDLR activity may be relevant for the substantial response of the patient to Evolocumab." @default.
• W2912248848 created "2019-02-21" @default.
• W2912248848 creator A5002679733 @default.
• W2912248848 creator A5027908485 @default.
• W2912248848 creator A5037991466 @default.
• W2912248848 creator A5039534728 @default.
• W2912248848 creator A5053415487 @default.
• W2912248848 creator A5066159389 @default.
• W2912248848 creator A5073054267 @default.
• W2912248848 creator A5074488226 @default.
• W2912248848 creator A5075503691 @default.
• W2912248848 creator A5091416189 @default.
• W2912248848 date "2019-05-01" @default.
• W2912248848 modified "2023-09-30" @default.
• W2912248848 title "A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition" @default.
• W2912248848 cites W1506073711 @default.
• W2912248848 cites W1558507319 @default.
• W2912248848 cites W1605707346 @default.
• W2912248848 cites W1966861335 @default.
• W2912248848 cites W1974020453 @default.
• W2912248848 cites W1978080134 @default.
• W2912248848 cites W1988113468 @default.
• W2912248848 cites W1990037685 @default.
• W2912248848 cites W1996359580 @default.
• W2912248848 cites W2010201702 @default.
• W2912248848 cites W2023735564 @default.
• W2912248848 cites W2036304437 @default.
• W2912248848 cites W2040612932 @default.
• W2912248848 cites W2041112823 @default.
• W2912248848 cites W2043461445 @default.
• W2912248848 cites W2064595460 @default.
• W2912248848 cites W2069421104 @default.
• W2912248848 cites W2083555350 @default.
• W2912248848 cites W2084744450 @default.
• W2912248848 cites W2087243137 @default.
• W2912248848 cites W2104467476 @default.
• W2912248848 cites W2124567340 @default.
• W2912248848 cites W2129079051 @default.
• W2912248848 cites W2139362624 @default.
• W2912248848 cites W2147415188 @default.
• W2912248848 cites W2154736856 @default.
• W2912248848 cites W2158340752 @default.
• W2912248848 cites W2159027999 @default.
• W2912248848 cites W2159952892 @default.
• W2912248848 cites W2166099310 @default.
• W2912248848 cites W2497128412 @default.
• W2912248848 cites W2511013773 @default.
• W2912248848 cites W2538659009 @default.
• W2912248848 cites W2588614813 @default.
• W2912248848 cites W2663206100 @default.
• W2912248848 cites W2762801938 @default.
• W2912248848 cites W2776490513 @default.
• W2912248848 cites W2778912952 @default.
• W2912248848 cites W4256651095 @default.
• W2912248848 doi "https://doi.org/10.1016/j.atherosclerosis.2019.01.010" @default.
• W2912248848 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30777337" @default.
• W2912248848 hasPublicationYear "2019" @default.
• W2912248848 type Work @default.
• W2912248848 sameAs 2912248848 @default.
• W2912248848 citedByCount "8" @default.
• W2912248848 countsByYear W29122488482019 @default.
• W2912248848 countsByYear W29122488482020 @default.
• W2912248848 countsByYear W29122488482021 @default.
• W2912248848 countsByYear W29122488482022 @default.
• W2912248848 countsByYear W29122488482023 @default.
• W2912248848 crossrefType "journal-article" @default.
• W2912248848 hasAuthorship W2912248848A5002679733 @default.
• W2912248848 hasAuthorship W2912248848A5027908485 @default.
• W2912248848 hasAuthorship W2912248848A5037991466 @default.
• W2912248848 hasAuthorship W2912248848A5039534728 @default.
• W2912248848 hasAuthorship W2912248848A5053415487 @default.
• W2912248848 hasAuthorship W2912248848A5066159389 @default.
• W2912248848 hasAuthorship W2912248848A5073054267 @default.
• W2912248848 hasAuthorship W2912248848A5074488226 @default.
• W2912248848 hasAuthorship W2912248848A5075503691 @default.
• W2912248848 hasAuthorship W2912248848A5091416189 @default.
• W2912248848 hasConcept C104317684 @default.
• W2912248848 hasConcept C12125453 @default.
• W2912248848 hasConcept C126322002 @default.
• W2912248848 hasConcept C134018914 @default.
• W2912248848 hasConcept C139770010 @default.
• W2912248848 hasConcept C153471976 @default.
• W2912248848 hasConcept C170493617 @default.
• W2912248848 hasConcept C180754005 @default.
• W2912248848 hasConcept C185592680 @default.
• W2912248848 hasConcept C2777482532 @default.
• W2912248848 hasConcept C2778163477 @default.
• W2912248848 hasConcept C2778657065 @default.
• W2912248848 hasConcept C2779120738 @default.
• W2912248848 hasConcept C2780072125 @default.
• W2912248848 hasConcept C2780948078 @default.
• W2912248848 hasConcept C43554185 @default.
• W2912248848 hasConcept C55493867 @default.
• W2912248848 hasConcept C71924100 @default.
• W2912248848 hasConceptScore W2912248848C104317684 @default.
• W2912248848 hasConceptScore W2912248848C12125453 @default.
• W2912248848 hasConceptScore W2912248848C126322002 @default.
• W2912248848 hasConceptScore W2912248848C134018914 @default.

• next