Detalhe da pesquisa
1.
Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration.
Hum Mol Genet
; 31(13): 2137-2154, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35075486
2.
Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration.
PLoS Genet
; 16(12): e1009259, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33362196
3.
GATD3A, a mitochondrial deglycase with evolutionary origins from gammaproteobacteria, restricts the formation of advanced glycation end products.
BMC Biol
; 20(1): 68, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35307029
4.
Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.
Gene Ther
; 29(1-2): 81-93, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257417
5.
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Proc Natl Acad Sci U S A
; 113(21): E2925-34, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162334
6.
Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice.
J Pharmacol Exp Ther
; 364(3): 409-419, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29284661
7.
Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane.
Proc Natl Acad Sci U S A
; 110(51): 20831-6, 2013 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302765
8.
Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGE(myd) mice.
Hum Mol Genet
; 22(4): 757-68, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23222475
9.
Frmpd1 Facilitates Trafficking of G-Protein Transducin and Modulates Synaptic Function in Rod Photoreceptors of Mammalian Retina.
eNeuro
; 9(5)2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180221
10.
The dystrophin-glycoprotein complex in the prevention of muscle damage.
J Biomed Biotechnol
; 2011: 210797, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22007139
11.
Soleus muscle in glycosylation-deficient muscular dystrophy is protected from contraction-induced injury.
Am J Physiol Cell Physiol
; 299(6): C1430-40, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20844247
12.
The proneural basic helix-loop-helix gene ascl1a is required for retina regeneration.
J Neurosci
; 28(5): 1109-17, 2008 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18234889
13.
Pias3 is necessary for dorso-ventral patterning and visual response of retinal cones but is not required for rod photoreceptor differentiation.
Biol Open
; 6(6): 881-890, 2017 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495965
14.
Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina.
Cell Rep
; 17(5): 1399-1413, 2016 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27783952
15.
Identification of alpha-dystroglycan binding sequences in the laminin alpha2 chain LG4-5 module.
Matrix Biol
; 29(2): 143-51, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19800000