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Items: 1 to 20 of 199

1.

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U.

Hum Mol Genet. 2008 Jan 1;17(1):71-86. Epub 2007 Sep 28.

PMID:
17906286
2.

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID:
16545802
3.

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

Reiners J, van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U.

Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21.

PMID:
16301216
4.

SANS (USH1G) expression in developing and mature mammalian retina.

Overlack N, Maerker T, Latz M, Nagel-Wolfrum K, Wolfrum U.

Vision Res. 2008 Feb;48(3):400-12. Epub 2007 Oct 17.

5.
6.

Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.

Sorusch N, Bauß K, Plutniok J, Samanta A, Knapp B, Nagel-Wolfrum K, Wolfrum U.

Hum Mol Genet. 2017 Mar 15;26(6):1157-1172. doi: 10.1093/hmg/ddx027.

PMID:
28137943
7.

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

van Wijk E, van der Zwaag B, Peters T, Zimmermann U, Te Brinke H, Kersten FF, Märker T, Aller E, Hoefsloot LH, Cremers CW, Cremers FP, Wolfrum U, Knipper M, Roepman R, Kremer H.

Hum Mol Genet. 2006 Mar 1;15(5):751-65. Epub 2006 Jan 24.

PMID:
16434480
8.

Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.

Kersten FF, van Wijk E, van Reeuwijk J, van der Zwaag B, Märker T, Peters TA, Katsanis N, Wolfrum U, Keunen JE, Roepman R, Kremer H.

Invest Ophthalmol Vis Sci. 2010 May;51(5):2338-46. doi: 10.1167/iovs.09-4650. Epub 2009 Dec 3.

PMID:
19959638
9.

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

Bauß K, Knapp B, Jores P, Roepman R, Kremer H, Wijk EV, Märker T, Wolfrum U.

Hum Mol Genet. 2014 Aug 1;23(15):3923-42. doi: 10.1093/hmg/ddu104. Epub 2014 Mar 8.

PMID:
24608321
10.

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.

Overlack N, Kilic D, Bauss K, Märker T, Kremer H, van Wijk E, Wolfrum U.

Biochim Biophys Acta. 2011 Oct;1813(10):1883-92. doi: 10.1016/j.bbamcr.2011.05.015. Epub 2011 Jul 13.

11.

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Kremer H, van Wijk E, Märker T, Wolfrum U, Roepman R.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R262-70. Review.

PMID:
16987892
12.

Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.

Zou J, Luo L, Shen Z, Chiodo VA, Ambati BK, Hauswirth WW, Yang J.

Invest Ophthalmol Vis Sci. 2011 Apr 12;52(5):2343-51. doi: 10.1167/iovs.10-6141. Print 2011 Apr.

13.

Protein networks and complexes in photoreceptor cilia.

Roepman R, Wolfrum U.

Subcell Biochem. 2007;43:209-35. Review.

PMID:
17953396
14.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C.

Hum Mol Genet. 2003 Mar 1;12(5):463-71.

PMID:
12588794
15.

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

Adato A, Lefèvre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C.

Hum Mol Genet. 2005 Dec 15;14(24):3921-32. Epub 2005 Nov 21.

PMID:
16301217
16.

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.

Chen Q, Zou J, Shen Z, Zhang W, Yang J.

J Biol Chem. 2014 Dec 26;289(52):36070-88. doi: 10.1074/jbc.M114.610535. Epub 2014 Nov 18.

17.

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.

Reiners J, Reidel B, El-Amraoui A, Boëda B, Huber I, Petit C, Wolfrum U.

Invest Ophthalmol Vis Sci. 2003 Nov;44(11):5006-15.

PMID:
14578428
18.

Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.

Sorusch N, Wunderlich K, Bauss K, Nagel-Wolfrum K, Wolfrum U.

Adv Exp Med Biol. 2014;801:527-33. doi: 10.1007/978-1-4614-3209-8_67. Review.

PMID:
24664740
19.

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.

Yan J, Pan L, Chen X, Wu L, Zhang M.

Proc Natl Acad Sci U S A. 2010 Mar 2;107(9):4040-5. doi: 10.1073/pnas.0911385107. Epub 2010 Feb 8.

20.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.

PMID:
17171570

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