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