Detalhe da pesquisa
1.
Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines.
Hum Mol Genet
; 31(16): 2711-2727, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325133
2.
Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma-1 receptor-positive modulator with cognitive and neuroprotective properties.
Phytother Res
; 38(2): 694-712, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38011416
3.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
4.
Use of Zebrafish Models to Boost Research in Rare Genetic Diseases.
Int J Mol Sci
; 22(24)2021 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948153
5.
Sigma-1 Receptor Is Critical for Mitochondrial Activity and Unfolded Protein Response in Larval Zebrafish.
Int J Mol Sci
; 22(20)2021 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34681705
6.
At the Crossing of ER Stress and MAMs: A Key Role of Sigma-1 Receptor?
Adv Exp Med Biol
; 1131: 699-718, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646531
7.
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
Hum Mol Genet
; 22(7): 1289-99, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255163
8.
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
J Med Genet
; 50(12): 848-58, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136862
9.
The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice.
Autophagy
; : 1-12, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38651637
10.
Calcium signaling and genetic rare diseases: An auditory perspective.
Cell Calcium
; 110: 102702, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791536
11.
Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.
Cell Death Dis
; 14(6): 387, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386014
12.
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
J Biol Chem
; 286(19): 17383-97, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21454591
13.
Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun
; 419(4): 643-7, 2012 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-22382023
14.
Sigma-1 receptor agonist PRE-084 confers protection against TAR DNA-binding protein-43 toxicity through NRF2 signalling.
Redox Biol
; 58: 102542, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442393
15.
NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome.
Mol Ther Methods Clin Dev
; 27: 295-308, 2022 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36320410
16.
Development of novel phenoxyalkylpiperidines as high-affinity Sigma-1 (σ1) receptor ligands with potent anti-amnesic effect.
Eur J Med Chem
; 228: 114038, 2022 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34902734
17.
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.
Sci Transl Med
; 14(631): eabh3763, 2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138910
18.
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Am J Hum Genet
; 83(2): 278-92, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18674745
19.
Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy.
Front Cell Dev Biol
; 9: 675517, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095146
20.
Sigma-1 (σ1) receptor activity is necessary for physiological brain plasticity in mice.
Eur Neuropsychopharmacol
; 39: 29-45, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893057