van der Spuy J - Search Results

1

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Sacristan-Reviriego A, Bellingham J, Prodromou C, Boehm AN, Aichem A, Kumaran N, Bainbridge J, Michaelides M, van der Spuy J. Sacristan-Reviriego A, et al. Among authors: van der spuy j. Hum Mol Genet. 2017 Nov 15;26(22):4465-4480. doi: 10.1093/hmg/ddx334. Hum Mol Genet. 2017. PMID: 28973376 Free PMC article.

2

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, Cheetham ME. van der Spuy J, et al. Hum Mol Genet. 2002 Apr 1;11(7):823-31. doi: 10.1093/hmg/11.7.823. Hum Mol Genet. 2002. PMID: 11929855

3

The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.

van der Spuy J, Kim JH, Yu YS, Szel A, Luthert PJ, Clark BJ, Cheetham ME. van der Spuy J, et al. Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5396-403. doi: 10.1167/iovs.03-0686. Invest Ophthalmol Vis Sci. 2003. PMID: 14638743

4

Role of AIP and its homologue the blindness-associated protein AIPL1 in regulating client protein nuclear translocation.

van der Spuy J, Cheetham ME. van der Spuy J, et al. Biochem Soc Trans. 2004 Aug;32(Pt 4):643-5. doi: 10.1042/BST0320643. Biochem Soc Trans. 2004. PMID: 15270697

5

The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.

van der Spuy J, Cheetham ME. van der Spuy J, et al. J Biol Chem. 2004 Nov 12;279(46):48038-47. doi: 10.1074/jbc.M407871200. Epub 2004 Aug 30. J Biol Chem. 2004. PMID: 15347646 Free article.

6

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

van der Spuy J, Munro PM, Luthert PJ, Preising MN, Bek T, Heegaard S, Cheetham ME. van der Spuy J, et al. Mol Vis. 2005 Jul 22;11:542-53. Mol Vis. 2005. PMID: 16052170 Free article.

7

The chaperone function of the LCA protein AIPL1. AIPL1 chaperone function.

Van der Spuy J, Cheetham ME. Van der Spuy J, et al. Adv Exp Med Biol. 2006;572:471-6. doi: 10.1007/0-387-32442-9_65. Adv Exp Med Biol. 2006. PMID: 17249611 Review. No abstract available.

8

The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.

Hidalgo-de-Quintana J, Evans RJ, Cheetham ME, van der Spuy J. Hidalgo-de-Quintana J, et al. Among authors: van der spuy j. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):2878-87. doi: 10.1167/iovs.07-1576. Epub 2008 Apr 11. Invest Ophthalmol Vis Sci. 2008. PMID: 18408180 Free PMC article.

9

The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.

Bett JS, Kanuga N, Richet E, Schmidtke G, Groettrup M, Cheetham ME, van der Spuy J. Bett JS, et al. Among authors: van der spuy j. PLoS One. 2012;7(2):e30866. doi: 10.1371/journal.pone.0030866. Epub 2012 Feb 7. PLoS One. 2012. PMID: 22347407 Free PMC article.

10

NUB1 modulation of GSK3β reduces tau aggregation.

Richet E, Pooler AM, Rodriguez T, Novoselov SS, Schmidtke G, Groettrup M, Hanger DP, Cheetham ME, van der Spuy J. Richet E, et al. Among authors: van der spuy j. Hum Mol Genet. 2012 Dec 15;21(24):5254-67. doi: 10.1093/hmg/dds376. Epub 2012 Sep 10. Hum Mol Genet. 2012. PMID: 22965877

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