Detalhe da pesquisa
1.
Pacemaker Channels and the Chronotropic Response in Health and Disease.
Circ Res
; 134(10): 1348-1378, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723033
2.
Lysosomal TRPML1 regulates mitochondrial function in hepatocellular carcinoma cells.
J Cell Sci
; 135(6)2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35274126
3.
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Int J Mol Sci
; 25(2)2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279271
4.
TPC1 deficiency or blockade augments systemic anaphylaxis and mast cell activity.
Proc Natl Acad Sci U S A
; 117(30): 18068-18078, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661165
5.
Xenon's Sedative Effect Is Mediated by Interaction with the Cyclic Nucleotide-Binding Domain (CNBD) of HCN2 Channels Expressed by Thalamocortical Neurons of the Ventrobasal Nucleus in Mice.
Int J Mol Sci
; 24(10)2023 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239964
6.
Paradigm shift: new concepts for HCN4 function in cardiac pacemaking.
Pflugers Arch
; 474(7): 649-663, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35556164
7.
Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site.
Hum Mol Genet
; 29(2): 295-304, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816042
8.
TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms.
Proc Natl Acad Sci U S A
; 114(41): E8595-E8602, 2017 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28923947
9.
The cGMP-Dependent Protein Kinase 2 Contributes to Cone Photoreceptor Degeneration in the Cnga3-Deficient Mouse Model of Achromatopsia.
Int J Mol Sci
; 22(1)2020 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33374621
10.
HCN3 ion channels: roles in sensory neuronal excitability and pain.
J Physiol
; 597(17): 4661-4675, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290157
11.
Expression of Ca²âº-permeable two-pore channels rescues NAADP signalling in TPC-deficient cells.
EMBO J
; 34(13): 1743-58, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25872774
12.
Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.
Adv Exp Med Biol
; 1185: 103-107, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884596
13.
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
PLoS Genet
; 12(1): e1005811, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26796962
14.
Endoplasmic reticulum (ER) Ca2+-channel activity contributes to ER stress and cone death in cyclic nucleotide-gated channel deficiency.
J Biol Chem
; 292(27): 11189-11205, 2017 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495882
15.
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.
Hum Mol Genet
; 25(6): 1165-75, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740549
16.
Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors.
Hum Mol Genet
; 25(12): 2367-2377, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033727
17.
Cone Genesis Tracing by the Chrnb4-EGFP Mouse Line: Evidences of Cellular Material Fusion after Cone Precursor Transplantation.
Mol Ther
; 25(3): 634-653, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28143742
18.
AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye.
Mol Ther
; 25(12): 2648-2660, 2017 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28970046
19.
Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.
Int J Mol Sci
; 19(3)2018 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518895
20.
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Hum Mol Genet
; 24(19): 5486-99, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188004