LDLR Gene

Aliases &
Descriptions
for LDLR

Previous GC identifers: GC19P011331 GC19P011045

Summaries
for LDLR

Gene Wiki entry for LDLR (LDL_receptor)

Genomic Location
for LDLR

Proteins
for LDLR

PDB structures from and Proteopedia :

1AJJ (3D)    1D2J (3D)    1F5Y (3D)    1F8Z (3D)    1HJ7 (3D)    1HZ8 (3D)    1I0U (3D)    1IJQ (3D)    

1LDL (3D)    1LDR (3D)    1LRX (3D)    1N7D (3D)    1XFE (3D)    2FCW (3D)    2W2M (3D)    2W2N (3D)    

2W2O (3D)    2W2P (3D)    2W2Q (3D)    3BPS (3D)    3GCW (3D)    3GCX (3D)    

Post-translational modifications:

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for LDLR (LDL R)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (LDL Receptor)
	Human Recombinant Proteins from Abnova (LDLR)

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of LDLR
	Sigma-Aldrich Antibodies for LDLR
	R&D Systems Antibodies for LDLR (LDL R)
	Antibodies from Abcam (LDL Receptor), each with their AbpromiseSM
	Monoclonal and Polyclonal Antibodies from Abnova (LDLR)
	Novus Biologicals Antibodies for LDLR

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for LDLR

5/11 InterPro domains/families (see all 11 ):

IPR002172 LDL_rcpt_classA_cys-rich  IPR000033 LDLR  IPR001881 EGF_Ca_bd  IPR000742 EGF_3  IPR011042 6-blade_b-propeller_TolB-like    GeneDecks  LDLR for the domains selected above   About GeneDecksing

Graphical View of Domain Structure for InterPro Entry P01130

ProtoNet protein and cluster: P01130

Gene Function
for LDLR

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LDLR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (LDLR)

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

15/16 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ldlr) (see all 16 ):

4 Gene Ontology (GO) molecular function terms (links to tree view):

Pathways & Interactions
for LDLR

1 Invitrogen iPath™ Online BioAtlas - Pathway for LDLR (Maps provided by GeneGo):

Regulation of lipid metabolism via LXR, NF-Y and SREBP    GeneDecks  LDLR for the pathways selected above   About GeneDecksing

2 Millipore Pathways for LDLR

Immune response Oncostatin M signaling via MAPK in human cells  Transcription Ligand-dependent activation of the ESR1/SP pathway    GeneDecks  LDLR for the pathways selected above   About GeneDecksing

3 Sigma-Aldrich "Your Favorite Gene" Pathways for  LDLR  (Your Favorite Gene powered by Ingenuity)

Clathrin-mediated Endocytosis  LXR/RXR Activation  TR/RXR Activation    GeneDecks  LDLR for the pathways selected above   About GeneDecksing

5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

Drugs & Compounds
for LDLR

Transcripts
for LDLR

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LDLR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (LDLR)

Applied Biosystems Silencer® siRNAs: 

REFSEQ mRNAs for LDLR gene: 

Applied Biosystems TaqMan ® Gene Expression Assays: 

Expression
for LDLR

LDLR expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for LDLR

¹ / ² / ³

10 probe-sets matching LDLR gene

	Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
			# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
	32855_at2, 3	U95-A	1	1.00	1.00	1.00	1.00	L00352	0.20	1.00	0.72	1
	31552_at2, 3	U95-A	1	1.00	1.00	-0.54	0.07	M28219	0.60	1.00	0.82	1
	217173_s_at2, 3	U133-A	1	1.00	1.00	--	--	S70123	0.80	1.00	0.91	1
	202067_s_at2, 3	U133-A	1	1.00	1.00	--	--	AI861942	0.60	1.00	0.82	1
	217103_at2, 3	U133-A	1	1.00	1.00	--	--	M28219	0.60	1.00	0.82	1
	202068_s_at2, 3	U133-A	1	1.00	1.00	--	--	NM_000527	0.60	1.00	0.82	1
	217173_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	202067_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	217103_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	202068_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks  LDLR for binary patterns associated with the probe-sets selected above   About GeneDecksing

About this table    

GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: ATCGAGCCAC

SOURCE GeneReport for Unigene clusters: Hs.213289 Hs.713967

Expression variation in blood from EXPOLDB for LDLR

Orthologs
for LDLR

Paralogs
for LDLR

Paralogs for LDLR gene

VLDLR²  LRP2²  LRP8²  

SNPs/Variants
for LDLR

Disorders & Mutations
for LDLR

UniProtKB/Swiss-Prot: LDLR_HUMAN, P01130

Medical News
for LDLR

Publications
for LDLR

• Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. (PubMed id 10882754)^{3, 4, 7} Thiart R.... Kotze M.J. (2000)
• Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. (PubMed id 9678702)^{1, 3, 4} Lee W.K....Dominiczak A.F. (1998)
• [Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.] (PubMed id 15477777)^{1, 3, 6} Meshkov A.N....Malyshev P.P. (2004)
• Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease. (PubMed id 15133863)^{1, 3, 6} Jiang Z.Y....Zhang S.D. (2004)
• [Interaction of ApoE and LDL-R gene polymorphisms and alcohol drinking and smoking on coronary heart disease] (PubMed id 15144588)^{1, 3, 6} Wang C.H....Zheng F. (2004)
• Investigation of an LDLR gene polymorphism (19p13.2) in susceptibility to migraine without aura. (PubMed id 12873747)^{1, 3, 6} Mochi M....Montagna P. (2003)
• [Distribution of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC locus alleles in the population of Russia] (PubMed id 12165956)^{1, 3, 6} Kornienko I.V....Ivanov P.L. (2002)
• Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci. (PubMed id 12189808)^{1, 3, 6} Morera B....Morales-Cordero A.I. (2001)
• LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. (PubMed id 9654205)^{1, 3, 4} Gorski B.... Lubinski J. (1998)
• A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). (PubMed id 8168830)^{1, 3, 4} Lelli N.... Calandra S. (1994)
• Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study. (PubMed id 15823280)^{1, 3, 6} Koeijvoets K.C....Sijbrands E.J. (2005)
• Polymorphism of LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, Ig-JH, D17S30, ApoB and D1S80 loci in northwestern Russians. (PubMed id 14550622)^{1, 3, 6} Smolyanitsky A.G....Khromov-Borisov N.N. (2003)
• Increased carotid artery intima-media thickness is associated with a novel mutation of low-density lipoprotein receptor independently of major cardiovascular risk factors. (PubMed id 14624402)^{1, 3, 6} Pauciullo P....Rubba P. (2003)
• Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. (PubMed id 12417285)^{1, 3, 6} Yu W....Mabuchi H. (2002)
• A common mutation of low-density lipoprotein receptor gene is associated with essential hypertension among Japanese. (PubMed id 11317192)^{1, 3, 6} Fu Y....Ogihara T. (2001)
• [The relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia] (PubMed id 11860839)^{1, 3, 6} Liu A....Li L. (2001)
• Software and database for the analysis of mutations in the human LDL receptor gene. (PubMed id 9016531)^{1, 3, 4} Varret M....Beroud C. (1997)
• An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia. (PubMed id 7635461)^{1, 3, 4} Ekstroem U.... Nilsson-Ehle P. (1995)
• Baseline levels of low-density lipoprotein cholesterol and lipoprotein (a) and the AvaII polymorphism of the low-density lipoprotein receptor gene influence the response of low-density lipoprotein cholesterol to pravastatin treatment. (PubMed id 15931608)^{3, 6} Lahoz C....Pinto X. (2005)
• Detection of large deletions in the LDL receptor gene with quantitative PCR methods. (PubMed id 15842735)^{3, 6} Damgaard D....Faergeman O. (2005)
• Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin- 17. (PubMed id 14739284)^{3, 4} Burden J.J.... Soutar A.K. (2004)
• Association of the C766T polymorphism of the low-density lipoprotein receptor-related protein gene with Alzheimer's disease. (PubMed id 12898587)^{3, 6} Kolsch H....Heun R. (2003)
• Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element. (PubMed id 12944120)^{3, 6} Hoogendijk C.F....Kotze M.J. (2003)
• [Association between AvaII exon 13 polymorphism at the LDL receptor gene different and serum lipid levels in normotensives and essential hypertensives in Shanghai] (PubMed id 12975003)^{3, 6} Liu A.P....Guo X.X. (2003)
• Structure of the LDL receptor extracellular domain at endosomal pH. (PubMed id 12459547)^{3, 4} Rudenko G.... Deisenhofer J. (2002)
• [Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia] (PubMed id 12042130)^{3, 6} Real J.T....Carmena R. (2002)
• Association of low-density lipoprotein receptor polymorphisms and outcome of hepatitis C infection. (PubMed id 12209363)^{3, 6} Hennig B.J....Hill A.V. (2002)
• ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. (PubMed id 12221107)^{3, 4} He G.... Cohen J.C. (2002)
• Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. (PubMed id 11857755)^{3, 6} Bunn C.F....George P.M. (2002)
• [Relationship between the Nco I, Ava II polymorphism of low density lipoprotein receptor gene and atherosclerotic cerebral infarction] (PubMed id 12048680)^{3, 6} Guo Y....Ruan G. (2002)
• A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. (PubMed id 12442279)^{3, 6} Castillo S....Pocovi M. (2002)
• A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia. (PubMed id 11298688)^{3, 4} Takahashi M.... Shimada K.A. (2001)
• Association between low-density lipoprotein receptor-related protein gene, butyrylcholinesterase gene and Alzheimer' s disease in Chinese. (PubMed id 12901493)^{3, 6} Bi S....Zhao Q. (2001)
• Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece. (PubMed id 11317361)^{3, 6} Miltiadous G....Cariolou M.A. (2001)
• Effect of Ava II and NcoI polymorphisms at the low density lipoprotein receptor gene on plasma lipid levels in a group of Thai subjects. (PubMed id 11194026)^{3, 6} Pongrapeeporn K.U....Ong-Ajyooth S. (2000)
• Uptake of HIV-1 tat protein mediated by low-density lipoprotein receptor-related protein disrupts the neuronal metabolic balance of the receptor ligands. (PubMed id 11100124)^{3, 4} Liu Y.... He J.J. (2000)
• NMR structure of a concatemer of the first and second ligand-binding modules of the human low-density lipoprotein receptor. (PubMed id 10933493)^{3, 4} Kurniawan N.D.... Smith R. (2000)
• Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. (PubMed id 10447263)^{3, 4} Hattori H.... Okada T. (1999)
• An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). (PubMed id 10422803)^{3, 4} Ekstroem U.... Nilsson-Ehle P. (1999)
• Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. (PubMed id 10206683)^{3, 4} Cenarro A.... Pocovi M. (1998)
• Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. (PubMed id 10660340)^{3, 4} Motti C.... Cortese C. (1998)
• Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. (PubMed id 9852677)^{3, 4} Hirayama T....Emi M. (1998)
• Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module. (PubMed id 9262405)^{3, 4} Fass D.... Berger J.M. (1997)
• Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics. (PubMed id 9254862)^{3, 4} Peeters A.V.... Kotze M.J. (1997)
• Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia. (PubMed id 9143924)^{3, 4} Jensen H.K....Gregersen N. (1997)
• Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (PubMed id 9259195)^{3, 4} Day I.N.M.... Humphries S.E. (1997)
• A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects. (PubMed id 8664907)^{3, 4} Sundvold H....Leren T.P. (1996)
• Characterization of mutations in the low density lipoprotein (LDL)- receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. (PubMed id 9026534)^{3, 4} Webb J.C.... Soutar A.K. (1996)
• Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia. (PubMed id 8740918)^{3, 4} Gundersen K.E.... Leren T.P. (1996)
• Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. (PubMed id 7649549)^{3, 4} Pereira E....Benlian P. (1995)
• Three-dimensional structure of a cysteine-rich repeat from the low- density lipoprotein receptor. (PubMed id 7603991)^{3, 4} Daly N.L.... Smith R. (1995)
• Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. (PubMed id 7649546)^{3, 4} Geisel J.... Oette K. (1995)
• Three-dimensional structure of the second cysteine-rich repeat from the human low-density lipoprotein receptor. (PubMed id 7578052)^{3, 4} Daly N.L.... Smith R. (1995)
• Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. (PubMed id 7550239)^{3, 4} Tricot-Guerber F....Hadjian A.J. (1995)
• Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. (PubMed id 7635482)^{3, 4} Leren T.P.... Ose L. (1995)
• Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. (PubMed id 7583548)^{3, 4} Maruyama T....Yamamoto A. (1995)
• Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene. (PubMed id 7573037)^{3, 4} Koivisto U.-M.... Kontula K. (1995)
• Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin. (PubMed id 8347689)^{3, 4} Rubinsztein D.C....van der Westhuyzen D.R. (1993)
• A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. (PubMed id 8462973)^{3, 4} Leitersdorf E.... Coetzee G.A. (1993)
• A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. (PubMed id 1446662)^{3, 4} Miyake Y.... Yamamoto A. (1992)
• Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PubMed id 1301956)^{3, 4} Hobbs H.H.... Goldstein J.L. (1992)
• Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. (PubMed id 1464748)^{3, 4} Rubinsztein D.C.... van der Westhuyzen D.R. (1992)
• Common low-density lipoprotein receptor mutations in the French Canadian population. (PubMed id 2318961)^{3, 4} Leitersdorf E.... Hobbs H.H. (1990)
• Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. (PubMed id 2569482)^{3, 4} Leitersdorf E.... Hobbs H.H. (1989)
• Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. (PubMed id 2726768)^{3, 4} Soutar A.K.... Patel D.D. (1989)
• Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. (PubMed id 3263645)^{3, 4} Leitersdorf E.... Coetzee G.A. (1988)
• The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis. (PubMed id 3104336)^{3, 4} Davis C.G.... Goldstein J.L. (1987)
• Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts. (PubMed id 3005267)^{3, 4} Davis C.G.... Goldstein J.L. (1986)
• The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. (PubMed id 3955657)^{3, 4} Davis C.G....Goldstein J.L. (1986)
• The LDL receptor gene: a mosaic of exons shared with different proteins. (PubMed id 2988123)^{3, 4} Suedhof T.C.... Russell D.W. (1985)
• The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. (PubMed id 6091915)^{3, 4} Yamamoto T.... Russell D.W. (1984)
• Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly. (PubMed id 17328821)^{1, 3} Holla O.L....Leren T.P. (2007)
• Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment. (PubMed id 15677715)^{1, 3} Maxwell K.N....Breslow J.L. (2005)
• Antibody-mediated disruption of the interaction between PCSK9 and the low-density lipoprotein receptor. (PubMed id 19196236)^{1, 3} Duff C.J....Hooper N.M. (2009)
• Cell surface expression of LDL receptor in chronic hepatitis C: correlation with viral load. (PubMed id 17473053)^{1, 3} Petit J.M....Hillon P. (2007)
• Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. (PubMed id 16183066)^{1, 3} Pisciotta L....Bertolini S. (2006)
• The low density lipoprotein receptor regulates the level of central nervous system human and murine apolipoprotein E but does not modify amyloid plaque pathology in PDAPP mice. (PubMed id 15888448)^{1, 3} Fryer J.D....Holtzman D.M. (2005)
• Association and linkage of LDLR gene variation with variation in plasma low density lipoprotein cholesterol. (PubMed id 9747026)^{1, 6} Boright A.P....Hegele R.A. (1998)
• Human LDL receptor enhances sequestration of ApoE4 and VLDL remnants on the surface of hepatocytes but not their internalization in mice. (PubMed id 18369154)^{1, 3} Altenburg M....Maeda N. (2008)
• [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family] (PubMed id 18247305)^{1, 3} Cheng X.H....Chen Y.M. (2008)
• Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. (PubMed id 11668627)^{1, 3} Wang J....Hegele R.A. (2001)
• The 39-kDa receptor-associated protein modulates lipoprotein catabolism by binding to LDL receptors. (PubMed id 7822276)^{1, 3} Medh J.D....Chappell D.A. (1995)
• The complex of the insect LDL receptor homolog, lipophorin receptor, LpR, and its lipoprotein ligand does not dissociate under endosomal conditions. (PubMed id 18331356)^{1, 3} Roosendaal S.D....Van der Horst D.J. (2008)
• Apolipoprotein E4 in macrophages enhances atherogenesis in a low density lipoprotein receptor-dependent manner. (PubMed id 17234631)^{1, 3} Altenburg M....Maeda N. (2007)
• Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. (PubMed id 17452316)^{1, 3} Zhang D.W....Hobbs H.H. (2007)
• Intracellular fate of LDL receptor family members depends on the cooperation between their ligand-binding and EGF domains. (PubMed id 15741231)^{1, 3} Van Hoof D....Van der Horst D.J. (2005)
• The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits. (PubMed id 15166224)^{1, 3} Michaely P....Hobbs H.H. (2004)
• Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. (PubMed id 15241806)^{1, 3} Mozas P....Pocovi M. (2004)
• Harmful effects of increased LDLR expression in mice with human APOE*4 but not APOE*3. (PubMed id 12969990)^{1, 3} Malloy S.I....Maeda N. (2004)
• The PX-domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptor. (PubMed id 12169628)^{1, 3} Stockinger W....Nimpf J. (2002)
• Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations. (PubMed id 11933210)^{1, 3} Salazar L.A....Hirata R.D. (2002)
• Sequencing of the coding exons of the LRP1 and LDLR genes on individual DNA samples reveals novel mutations in both genes. (PubMed id 11257257)^{1, 3} Van Leuven F.... Descamps O. (2001)
• Expression of low and high density lipoprotein receptor genes in human adrenals. (PubMed id 10832106)^{1, 3} Liu J....Voutilainen R. (2000)
• Aortic calcifications in familial hypercholesterolemia: potential role of the low-density lipoprotein receptor gene. (PubMed id 19081415)^{1, 3} Alrasadi K....Genest J. (2009)
• Reduced expression of low-density lipoprotein receptor in hepatocellular carcinoma with paraneoplastic hypercholesterolemia. (PubMed id 17784865)^{1, 3} Sohda T....Sakisaka S. (2008)
• Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. (PubMed id 19007590)^{1, 3} Civeira F....Pocovi M. (2008)
• Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. (PubMed id 17347910)^{1, 3} Widhalm K....Kostner G. (2007)
• Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes. (PubMed id 17566095)^{1, 3} Garcia-Otin A.L....Civeira F. (2007)
• Influence of maternal lipid profile on placental protein expression of LDLr and SR-BI. (PubMed id 17531953)^{1, 3} Ethier-Chiasson M....Lafond J. (2007)
• Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes. (PubMed id 16129683)^{1, 3} Sirinian M.I....Arca M. (2005)

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