| Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. | Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
Fritze JS, Stiehler FF, Wolfrum U., Free PMC Article | 01/11/2024 |
| SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes. | SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.
Yildirim A, Mozaffari-Jovin S, Wallisch AK, Schäfer J, Ludwig SEJ, Urlaub H, Lührmann R, Wolfrum U., Free PMC Article | 06/26/2021 |
| Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. | Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
D'Esposito F, Randazzo V, Cennamo G, Centore N, Maltese PE, Malesci R, D'Andrea L, Bertelli M, Marciano E, de Crecchio G, Pioppo A, Magli A, Cordeiro MF. | 06/19/2021 |
| Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
He Y, Li J, Zhang M. | 09/19/2020 |
| The protein products of PCDH15 and USH1G function together at the stereocilia tips in the hair cells. | Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah, University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM., Free PMC Article | 04/20/2019 |
| Crystall structure shows the interactions between SANS protein domains and its partner Myo7a. | Myosin 7 and its adaptors link cadherins to actin.
Yu IM, Planelles-Herrero VJ, Sourigues Y, Moussaoui D, Sirkia H, Kikuti C, Stroebel D, Titus MA, Houdusse A., Free PMC Article | 01/19/2019 |
| Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. | 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. | 05/20/2017 |
| USH1G caused a non-syndromic hearing loss in a Dutch family. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). | Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
Maria Oonk AM, van Huet RA, Leijendeckers JM, Oostrik J, Venselaar H, van Wijk E, Beynon A, Kunst HP, Hoyng CB, Kremer H, Schraders M, Pennings RJ. | 05/21/2016 |
| In USH1G patients, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration. | 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. | 02/21/2015 |
| A novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype has been identified in consanguineous Saudi Arabia siblings. | USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Imtiaz F, Taibah K, Bin-Khamis G, Kennedy S, Hemidan A, Al-Qahtani F, Tabbara K, Al Mubarak B, Ramzan K, Meyer BF, Al-Owain M., Free PMC Article | 12/22/2012 |
| Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. | Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T., Free PMC Article | 04/28/2012 |
| A role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells. | 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. | 11/12/2011 |
| crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution; MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM | Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Wu L, Pan L, Wei Z, Zhang M. | 03/5/2011 |
| A frameshift mutation in SANS results in atypical Usher syndrome | A frameshift mutation in SANS results in atypical Usher syndrome.
Bashir R, Fatima A, Naz S., Free PMC Article | 02/26/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins | 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., Free PMC Article | 04/19/2010 |
| Observational study of gene-disease association and genetic testing. (HuGE Navigator) | Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM. | 09/20/2009 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (2) articlesScreening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J, Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ. | 03/13/2008 |
| USH1G has a minor involvement in Usher syndrome pathogenesis. Only eight different changes without a clear pathogenic effect have been detected. | Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J, Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J. | 01/21/2010 |
| A novel D458V mutation in the USH1G PDZ binding motif causes atypical Usher syndrome. | A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H. | 01/21/2010 |