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Items: 1 to 20 of 126

1.

Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.

Jones C, Garuti R, Michaely P, Li WP, Maeda N, Cohen JC, Herz J, Hobbs HH.

J Clin Invest. 2007 Jan;117(1):165-74.

2.

Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia.

Jones C, Hammer RE, Li WP, Cohen JC, Hobbs HH, Herz J.

J Biol Chem. 2003 Aug 1;278(31):29024-30. Epub 2003 May 13.

3.

Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo.

Harada-Shiba M, Takagi A, Marutsuka K, Moriguchi S, Yagyu H, Ishibashi S, Asada Y, Yokoyama S.

Circ Res. 2004 Oct 29;95(9):945-52. Epub 2004 Oct 7.

4.

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.

J Lipid Res. 2013 Jun;54(6):1550-9. doi: 10.1194/jlr.M033167. Epub 2013 Apr 7.

6.

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.

Gene. 2013 May 25;521(1):200-3. doi: 10.1016/j.gene.2013.03.034. Epub 2013 Mar 17.

PMID:
23510778
7.

Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH).

Fellin R, Zuliani G, Arca M, Pintus P, Pacifico A, Montali A, Corsini A, Maioli M.

Nutr Metab Cardiovasc Dis. 2003 Oct;13(5):278-86.

PMID:
14717060
8.
9.

Autosomal recessive hypercholesterolemia.

Soutar AK, Naoumova RP.

Semin Vasc Med. 2004 Aug;4(3):241-8. Review.

PMID:
15630633
10.

Autosomal recessive hypercholesterolemia: a mild phenotype of familial hypercholesterolemia: insight from the kinetic study using stable isotope and animal studies.

Tada H, Kawashiri MA, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.

J Atheroscler Thromb. 2015;22(1):1-9. doi: 10.5551/jat.27227. Epub 2014 Nov 14. Review.

11.

In LDL receptor-deficient mice, catabolism of remnant lipoproteins requires a high level of apoE but is inhibited by excess apoE.

van Dijk KW, van Vlijmen BJ, van't Hof HB, van der Zee A, Santamarina-Fojo S, van Berkel TJ, Havekes LM, Hofker MH.

J Lipid Res. 1999 Feb;40(2):336-44.

12.

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.

Proc Natl Acad Sci U S A. 2012 May 1;109(18):6916-21. doi: 10.1073/pnas.1114128109. Epub 2012 Apr 16.

13.

The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits.

Michaely P, Li WP, Anderson RG, Cohen JC, Hobbs HH.

J Biol Chem. 2004 Aug 6;279(32):34023-31. Epub 2004 May 27.

14.

Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery.

Ishibashi S, Brown MS, Goldstein JL, Gerard RD, Hammer RE, Herz J.

J Clin Invest. 1993 Aug;92(2):883-93.

15.

Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation.

Tremblay AJ, Lamarche B, Ruel IL, Hogue JC, Bergeron J, Gagné C, Couture P.

J Lipid Res. 2004 May;45(5):866-72. Epub 2004 Feb 16.

16.

Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.

Tada H, Kawashiri MA, Ikewaki K, Terao Y, Noguchi T, Nakanishi C, Tsuchida M, Takata M, Miwa K, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.

Circ Cardiovasc Genet. 2012 Feb 1;5(1):35-41. doi: 10.1161/CIRCGENETICS.111.960948. Epub 2011 Dec 9.

17.

Absence of hyperlipidemia in LDL receptor-deficient mice having apolipoprotein B100 without the putative receptor-binding sequences.

Johnson LA, Altenburg MK, Walzem RL, Scanga LT, Maeda N.

Arterioscler Thromb Vasc Biol. 2008 Oct;28(10):1745-52. doi: 10.1161/ATVBAHA.108.169680. Epub 2008 Jul 10.

18.

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.

Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio A, Fresa R, Cantafora A, Arca M, Calandra S, Bertolini S.

Atherosclerosis. 2006 Oct;188(2):398-405. Epub 2005 Dec 15.

PMID:
16343504
19.

The important role for betaVLDLs binding at the fourth cysteine of first ligand-binding domain in the low-density lipoprotein receptor.

Iwasaki T, Takahashi S, Ishihara M, Takahashi M, Ikeda U, Shimada K, Fujino T, Yamamoto TT, Hattori H, Emi M.

J Hum Genet. 2004;49(11):622-8. Epub 2004 Oct 1.

PMID:
15459764
20.

The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.

Mishra SK, Watkins SC, Traub LM.

Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16099-104. Epub 2002 Nov 25.

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