1 | ARH, LDLRAP1
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| Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia
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| Shaik NA, Al-Qahtani F, Nasser K, Jamil K, Alrayes NM, Elango R, Awan ZA, Banaganapalli B.
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| J Gene Med. Jun;22(6):e3176. doi: 10.1002/jgm.3176. Epub 2020 Mar 3. 2020
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2 | ARH, LDLRAP1
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| Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction
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| Lee C, Cui Y, Song J, Li S, Zhang F, Wu M, Li L, Hu D, Chen H.
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| Lipids Health Dis. Apr 11;18(1):95. doi: 10.1186/s12944-019-1042-3. 2019
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3 | DAB2, LDLRAP1
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| Endocytic adaptors Arh and Dab2 control homeostasis of circulatory cholesterol.
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| Tao W, Moore R, Meng Y, Smith ER, Xu XX.
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| J Lipid Res. May;57(5):809-17. doi: 10.1194/jlr.M063065. Epub 2016 Mar 22. 2016
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4 | LDLRAP1, LRP2
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| ARH directs megalin to the endocytic recycling compartment to regulate its proteolysis and gene expression
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| Shah M, Baterina OY Jr, Taupin V, Farquhar MG.
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| J Cell Biol. Jul 8;202(1):113-27. doi: 10.1083/jcb.201211110. 2013
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5 | AP1B1, LDLRAP1
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| ARH cooperates with AP-1B in the exocytosis of LDLR in polarized epithelial cells.
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| Kang RS, Fölsch H.
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| J Cell Biol 193(1):51-60. doi: 10.1083/jcb.201012121. Epub 2011 Mar 28.
2011
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6 | KCNJ1, LDLRAP1
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| The ARH adaptor protein regulates endocytosis of the ROMK potassium secretory channel in mouse kidney.
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| Fang L, Garuti R, Kim BY, Wade JB, Welling PA.
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| J Clin Invest 119(11):3278-89. doi: 10.1172/JCI37950. Epub 2009 Oct 19.
2009
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7 | ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
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| Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
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| Rahalkar AR, Hegele RA.
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| Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
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8 | LDLRAP1, ARH
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| Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene.
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| Quagliarini F, Vallv JC, Campagna F, Alvaro A, Fuentes-Jimenez FJ, Sirinian MI, Meloni F, Masana L, Arca M.
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| Mol Genet Metab 92(3):243-8. Epub 2007 Aug 7. 2007
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9 | LDLRAP1
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| Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein.
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| Mishra SK, Keyel PA, Edeling MA, Dupin AL, Owen DJ, Traub LM.
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| J Biol Chem 280(19):19270-80. Epub 2005 Feb 22. 2005
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10 | LDLRAP1
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| 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.
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| Sirinian MI, Belleudi F, Campagna F, Ceridono M, Garofalo T, Quagliarini F, Verna R, Calandra S, Bertolini S, Sorice M, Torrisi MR, Arca M.
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| J Biol Chem 280(46):38416-23. Epub 2005 Aug 29. 2005
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11 | LDLRAP1, LRP2
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| The adaptor protein ARH escorts megalin to and through endosomes.
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| Nagai M, Meerloo T, Takeda T, Farquhar MG.
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| Mol Biol Cell 14(12):4984-96. Epub 2003 Oct 3. 2003
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12 | LDLRAP1, CLLDL
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| Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
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| Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC.
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| Circ Res 90(9):951-8. 2002
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13 | ARH, LDLRAP1
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| Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
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| Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH.
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| Science 292(5520):1394-8. 2001
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