Detalhe da pesquisa
1.
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Hum Mol Genet
; 32(3): 431-449, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997788
2.
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A.
Int J Mol Sci
; 23(7)2022 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35408898
3.
C4-dicarboxylates and l-aspartate utilization by Escherichia coli K-12 in the mouse intestine: l-aspartate as a major substrate for fumarate respiration and as a nitrogen source.
Environ Microbiol
; 23(5): 2564-2577, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33754467
4.
Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa.
Int J Mol Sci
; 22(17)2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502064
5.
Translational Read-Through Therapy of RPGR Nonsense Mutations.
Int J Mol Sci
; 21(22)2020 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33182541
6.
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Hum Mol Genet
; 26(6): 1157-1172, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137943
7.
Tackling the Limitations of Copolymeric Small Interfering RNA Delivery Agents by a Combined Experimental-Computational Approach.
Biomacromolecules
; 20(12): 4389-4406, 2019 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686497
8.
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
Int J Mol Sci
; 20(24)2019 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31842393
9.
Impact of the Usher syndrome on olfaction.
Hum Mol Genet
; 25(3): 524-33, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26620972
10.
[The Usher Syndrome, a Human Ciliopathy]. / Das Usher-Syndrom, eine Ziliopathie des Menschen.
Klin Monbl Augenheilkd
; 235(3): 273-280, 2018 Mar.
Artigo
em Alemão
| MEDLINE | ID: mdl-29534264
11.
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
Hum Mol Genet
; 24(4): 972-86, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25292197
12.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593283
13.
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Hum Mol Genet
; 23(19): 5197-210, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833722
14.
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype.
Cell Mol Life Sci
; 72(20): 3953-69, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25939269
15.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Nat Genet
; 39(7): 889-95, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17546029
16.
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Hum Mutat
; 35(3): 289-93, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375934
17.
Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.
Vis Neurosci
; 31(4-5): 309-16, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24912600
18.
Therapy strategies for Usher syndrome Type 1C in the retina.
Adv Exp Med Biol
; 801: 741-7, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664766
19.
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
Adv Exp Med Biol
; 801: 527-33, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664740
20.
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Hum Mol Genet
; 20(5): 975-87, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21159800