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References

These sources were used to develop the Genetics Home Reference gene summary on the LDLRAP1 gene.

Entrez Gene
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. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001 May 18;292(5520):1394-8. Epub 2001 Apr 26. PubMed citation
Garuti R, Jones C, Li WP, Michaely P, Herz J, Gerard RD, Cohen JC, Hobbs HH. The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits. J Biol Chem. 2005 Dec 9;280(49):40996-1004. Epub 2005 Sep 22. PubMed citation
Michaely P, Li WP, Anderson RG, Cohen JC, Hobbs HH. The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits. J Biol Chem. 2004 Aug 6;279(32):34023-31. Epub 2004 May 27. PubMed citation
Sirinian MI, Belleudi F, Campagna F, Ceridono M, Garofalo T, Quagliarini F, Verna R, Calandra S, Bertolini S, Sorice M, Torrisi MR, Arca M. 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. J Biol Chem. 2005 Nov 18;280(46):38416-23. Epub 2005 Aug 29. PubMed citation
Soutar AK, Naoumova RP, Traub LM. Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2003 Nov 1;23(11):1963-70. Epub 2003 Sep 4. Review. PubMed citation
Soutar AK, Naoumova RP. Autosomal recessive hypercholesterolemia. Semin Vasc Med. 2004 Aug;4(3):241-8. Review. PubMed citation
Wilund KR, Yi M, Campagna F, Arca M, Zuliani G, Fellin R, Ho YK, Garcia JV, Hobbs HH, Cohen JC. Molecular mechanisms of autosomal recessive hypercholesterolemia. Hum Mol Genet. 2002 Nov 15;11(24):3019-30. PubMed citation


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