| A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia | A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia.
Ahangari N, Sahebkar A, Azimi-Nezhad M, Ghazizadeh H, Moohebati M, Ebrahim M, Esmaeili H, Ferns GA, Pasdar A, Ghayour Mobarhan M., Free PMC Article | 01/22/2022 |
| Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia. | Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.
Shaik NA, Al-Qahtani F, Nasser K, Jamil K, Alrayes NM, Elango R, Awan ZA, Banaganapalli B. | 07/17/2021 |
| new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia | A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene.
Vaverkova H, Tichy L, Karasek D, Freiberger T. | 05/30/2020 |
| Case Report: combined variants in LDLR/LDLRAP1 genes trigger a severe familial hypercholesterolemia phenotype. | Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
Alnouri F, Athar M, Al-Allaf FA, Abduljaleel Z, Taher MM, Bouazzaoui A, Al Ammari D, Karrar H, Albabtain M. | 11/2/2019 |
| Pathogenic mutations in LDLR, APOB, PCSK9 and LDLRAP1 genes were found in 17 of 225 patients with familial hypercholesterolemia leading to premature myocardial infarction. | Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.
Lee C, Cui Y, Song J, Li S, Zhang F, Wu M, Li L, Hu D, Chen H., Free PMC Article | 08/10/2019 |
| The results show that phosphorylated ARH1 has more ordered structure than the non-phosphorylated type. | Understanding the differences of the ligand binding/unbinding pathways between phosphorylated and non-phosphorylated ARH1 using molecular dynamics simulations.
Zhu J, Lv Y, Han X, Xu D, Han W., Free PMC Article | 06/29/2019 |
| LDLRAP1 associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age </=65 years, and LDL-C levels >/=160 mg/dl. | Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
Amor-Salamanca A, Castillo S, Gonzalez-Vioque E, Dominguez F, Quintana L, Lluís-Ganella C, Escudier JM, Ortega J, Lara-Pezzi E, Alonso-Pulpon L, Garcia-Pavia P. | 10/7/2017 |
| Numb specifically regulates NPC1L1-mediated cholesterol absorption both in human intestine and liver, distinct from ARH and Dab2, which selectively participate in LDLR-mediated LDL uptake. | The clathrin adaptor proteins ARH, Dab2, and numb play distinct roles in Niemann-Pick C1-Like 1 versus low density lipoprotein receptor-mediated cholesterol uptake.
Wei J, Fu ZY, Li PS, Miao HH, Li BL, Ma YT, Song BL., Free PMC Article | 02/14/2015 |
| Identification of ARH gene and characterization of its mutations in Autosomal Recessive Hypercholesterolemia patients [Review] | The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.
Fellin R, Arca M, Zuliani G, Calandra S, Bertolini S. | 01/31/2015 |
| cells that depend upon ARH for LDL uptake can control which lipoproteins are internalized by their LDLRs through changes in nitric oxide. | S-nitrosylation of ARH is required for LDL uptake by the LDL receptor.
Zhao Z, Pompey S, Dong H, Weng J, Garuti R, Michaely P., Free PMC Article | 11/2/2013 |
| This work identified a combined LDL receptor and LDLRAP1 mutation as the cause for severe familial hypercholesterolemia in a family of Turkish descent. | A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
Soufi M, Rust S, Walter M, Schaefer JR. | 08/31/2013 |
| The report provides evidence that endocytosis of the ROMK potassium channel is controlled by LDLRAP1 (ARH). ROMK binds directly to the LDLRAP1, and this interaction is mediated by a novel variant of the canonical "NPXY" endocytotic signal, YxNPxFV. LDLRAP1-knockout mice are unable to physiologically regulate ROMK. | The ARH adaptor protein regulates endocytosis of the ROMK potassium secretory channel in mouse kidney.
Fang L, Garuti R, Kim BY, Wade JB, Welling PA., Free PMC Article | 02/27/2013 |
| report the crystal structure at 1.37-A resolution of the phosphotyrosine-binding (PTB) domain of ARH in complex with an LDLR tail peptide containing the FxNPxY(0) internalization signal | Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
Dvir H, Shah M, Girardi E, Guo L, Farquhar MG, Zajonc DM., Free PMC Article | 07/14/2012 |
| LDL receptor/LDLRAP1 double heterozygous mutations may account for severer phenotype in terms of xanthoma and atherosclerotic cardiovascular disease in familial hypercholesterolemia patients. | A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M. | 04/7/2012 |
| ARH protein is involved in cell cycle progression, possibly by affecting nuclear membrane formation through interaction with lamin B1 or other mitotic proteins, and its absence affects cell proliferation and induces premature senescence. | Premature senescence in cells from patients with autosomal recessive hypercholesterolemia (ARH): evidence for a role for ARH in mitosis.
Sun XM, Patel DD, Acosta JC, Gil J, Soutar AK. | 11/12/2011 |
| Knockdown of ARH in polarized epithelial cells leads to specific apical missorting of truncated LDLR, which encodes only the FxNPxY motif (LDLR-CT27). | ARH cooperates with AP-1B in the exocytosis of LDLR in polarized epithelial cells.
Kang RS, Fölsch H., Free PMC Article | 06/18/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| newly identified a rare Thr56Met missense mutation located in the phosphotyrosine-binding domain of ARH; among 1,800 Japanese individuals, only 4 were heterozygous for Thr56Met and all had hypercholesterolemia resembling familiar hypercholesterolemia | A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.
Harada K, Miyamoto Y, Morisaki H, Ohta N, Yamanaka I, Kokubo Y, Makino H, Harada-Shiba M, Okayama A, Tomoike H, Okamura T, Saito Y, Yoshimasa Y, Morisaki T. | 06/28/2010 |
| Report prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. | Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.
Filigheddu F, Quagliarini F, Campagna F, Secci T, Degortes S, Zaninello R, Argiolas G, Verna R, Pitzoi S, Frau F, Troffa C, Bulla E, Bertolini S, Glorioso N, Arca M, Filigheddu F, Quagliarini F, Campagna F, Secci T, Degortes S, Zaninello R, Argiolas G, Verna R, Pitzoi S, Frau F, Troffa C, Bulla E, Bertolini S, Glorioso N, Arca M. | 01/25/2010 |
| PCSK9-mediated LDLR degradation is not entirely dependent on ARH function | Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.
Fasano T, Sun XM, Patel DD, Soutar AK. | 01/21/2010 |
| the endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis | The endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis.
Lehtonen S, Shah M, Nielsen R, Iino N, Ryan JJ, Zhou H, Farquhar MG., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesNew genetic associations detected in a host response study to hepatitis B vaccine.
Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.
Filigheddu F, Quagliarini F, Campagna F, Secci T, Degortes S, Zaninello R, Argiolas G, Verna R, Pitzoi S, Frau F, Troffa C, Bulla E, Bertolini S, Glorioso N, Arca M, Filigheddu F, Quagliarini F, Campagna F, Secci T, Degortes S, Zaninello R, Argiolas G, Verna R, Pitzoi S, Frau F, Troffa C, Bulla E, Bertolini S, Glorioso N, Arca M. ARH missense polymorphisms and plasma cholesterol levels.
Hubacek JA, Hyatt T. | 03/13/2008 |
| Large deletion in the ARH gene is associated with autosomal recessive hypercholesterolemia | Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene.
Quagliarini F, Vallvé JC, Campagna F, Alvaro A, Fuentes-Jimenez FJ, Sirinian MI, Meloni F, Masana L, Arca M. | 01/21/2010 |
| restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression | Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.
Eden ER, Patel DD, Sun XM, Burden JJ, Themis M, Edwards M, Lee P, Neuwirth C, Naoumova RP, Soutar AK., Free PMC Article | 01/21/2010 |
| ARH facilitates endocytosis of megalin, escorts megalin along its endocytic route | The adaptor protein ARH escorts megalin to and through endosomes.
Nagai M, Meerloo T, Takeda T, Farquhar MG., Free PMC Article | 01/21/2010 |