Detalhe da pesquisa
1.
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Hum Mol Genet
; 29(8): 1310-1318, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196553
2.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Hum Mol Genet
; 26(13): 2480-2492, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444310
3.
Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.
Hum Mol Genet
; 26(3): 611-623, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031292
4.
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
Hum Mol Genet
; 26(14): 2667-2677, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475715
5.
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet
; 99(6): 1305-1315, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889058
6.
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
Biochem Soc Trans
; 44(5): 1245-1251, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911706
7.
Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa.
Adv Exp Med Biol
; 854: 479-84, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427449
8.
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Proc Natl Acad Sci U S A
; 109(5): 1661-6, 2012 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22307627
9.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Hum Mol Genet
; 26(17): 3451, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28854704
10.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Hum Mol Genet
; 21(16): 3647-54, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22619378
11.
Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia.
Stem Cell Reports
; 17(6): 1351-1365, 2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35523178
12.
Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients.
Front Aging Neurosci
; 14: 1048584, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36733499
13.
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
Hum Mol Genet
; 18(9): 1556-65, 2009 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19208651
14.
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Mol Ther Nucleic Acids
; 21: 412-427, 2020 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32653833
15.
DNAJ Proteins in neurodegeneration: essential and protective factors.
Philos Trans R Soc Lond B Biol Sci
; 373(1738)2018 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203718
16.
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Mol Ther Nucleic Acids
; 12: 730-740, 2018 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30114557
17.
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
Cell Stem Cell
; 18(6): 769-781, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151457
18.
The cell stress machinery and retinal degeneration.
FEBS Lett
; 587(13): 2008-17, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684651
19.
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
Mol Endocrinol
; 23(12): 2086-94, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19855093