Molecular mechanisms of autosomal recessive hypercholesterolemia
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The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pitsExogenous plant MIR168a specifically targets mammalian LDLRAP1: evidence of cross-kingdom regulation by microRNARoles for retrotransposon insertions in human diseaseMechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskHuman transposon tectonicsNormal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemiaTargeted disruption of the PDZK1 gene in mice causes tissue-specific depletion of the high density lipoprotein receptor scavenger receptor class B type I and altered lipoprotein metabolismWhole-genome analysis informs breast cancer response to aromatase inhibitionAdaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytesThe endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis.SVA retrotransposons: Evolution and genetic instabilityCharacterisation of the potential function of SVA retrotransposons to modulate gene expression patternsLINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruptionRetrotransposition of marked SVA elements by human L1s in cultured cells.New light on a long-known protein family.Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonismEstimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis.Identification of polymorphic SVA retrotransposons using a mobile element scanning method for SVA (ME-Scan-SVA)Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.Retroelements versus APOBEC3 family members: No great escape from the magnificent sevenVariable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.The LXR-IDOL axis defines a clathrin-, caveolae-, and dynamin-independent endocytic route for LDLR internalization and lysosomal degradation.Structure and Expression Analyses of SVA Elements in Relation to Functional Genes.Exon-trapping mediated by the human retrotransposon SVA.5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genomePost-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.Distinct effects of Disabled-2 on transferrin uptake in different cell types and culture conditions.Potential relevance of microRNAs in inter-species epigenetic communication, and implications for disease pathogenesis.Receptor-Mediated Endocytosis in the Proximal Tubule.Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits.Macrophage colony-stimulating factor differentially regulates low density lipoprotein and transferrin receptors.The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machineryEssential role of the apolipoprotein E receptor-2 in sperm development.Xenopus autosomal recessive hypercholesterolemia protein couples lipoprotein receptors with the AP-2 complex in oocytes and embryos and is required for vitellogenesis.SVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia B.Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.Science, serendipity, and the single degree
P2860
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P2860
Molecular mechanisms of autosomal recessive hypercholesterolemia
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Molecular mechanisms of autosomal recessive hypercholesterolemia
@ast
Molecular mechanisms of autosomal recessive hypercholesterolemia
@en
Molecular mechanisms of autosomal recessive hypercholesterolemia
@en-gb
Molecular mechanisms of autosomal recessive hypercholesterolemia
@nl
type
label
Molecular mechanisms of autosomal recessive hypercholesterolemia
@ast
Molecular mechanisms of autosomal recessive hypercholesterolemia
@en
Molecular mechanisms of autosomal recessive hypercholesterolemia
@en-gb
Molecular mechanisms of autosomal recessive hypercholesterolemia
@nl
prefLabel
Molecular mechanisms of autosomal recessive hypercholesterolemia
@ast
Molecular mechanisms of autosomal recessive hypercholesterolemia
@en
Molecular mechanisms of autosomal recessive hypercholesterolemia
@en-gb
Molecular mechanisms of autosomal recessive hypercholesterolemia
@nl
P2093
P921
P3181
P356
P1476
Molecular mechanisms of autosomal recessive hypercholesterolemia
@en
P2093
Filomena Campagna
Giovanni Zuliani
Helen H Hobbs
J Victor Garcia
Jonathan C Cohen
Kenneth R Wilund
Marcello Arca
Renato Fellin
Yiu-Kee Ho
P304
P3181
P356
10.1093/HMG/11.24.3019
P407
P577
2002-11-15T00:00:00Z