Detalhe da pesquisa
1.
Prph2 disease mutations lead to structural and functional defects in the RPE.
FASEB J
; 36(5): e22284, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344225
2.
Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival.
Proc Natl Acad Sci U S A
; 117(34): 20615-20624, 2020 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778589
3.
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
4.
A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice.
Neurobiol Dis
; 80: 15-28, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25989602
5.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat
; 35(10): 1153-62, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044745
6.
The role of syntaxins in retinal function and health.
Front Cell Neurosci
; 18: 1380064, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38799985
7.
Effective intravitreal gene delivery to retinal pigment epithelium with hyaluronic acid nanospheres.
Mol Ther Nucleic Acids
; 35(2): 102222, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38868364
8.
Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.
Commun Biol
; 6(1): 933, 2023 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37700068
9.
The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.
Nat Commun
; 14(1): 972, 2023 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810733
10.
The Neuroprotective Role of Retbindin, a Metabolic Regulator in the Neural Retina.
Front Pharmacol
; 13: 919667, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35873559
11.
The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.
Cells
; 9(3)2020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32213850
12.
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
Invest Ophthalmol Vis Sci
; 58(10): 3950-3959, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28785766
13.
Deep Sequencing of the Human Retinae Reveals the Expression of Odorant Receptors.
Front Cell Neurosci
; 11: 03, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28174521
14.
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Elife
; 42015 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386247
15.
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Genome Biol
; 16: 293, 2015 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26714646