Detalhe da pesquisa
1.
Low signaling efficiency from receptor to effector in olfactory transduction: A quantified ligand-triggered GPCR pathway.
Proc Natl Acad Sci U S A
; 119(32): e2121225119, 2022 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35914143
2.
Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease.
J Biol Chem
; 299(5): 104614, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36931393
3.
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Hum Mol Genet
; 30(14): 1293-1304, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909047
4.
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
J Transl Med
; 21(1): 546, 2023 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37587475
5.
Ca2+-activated Cl current predominates in threshold response of mouse olfactory receptor neurons.
Proc Natl Acad Sci U S A
; 115(21): 5570-5575, 2018 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735665
6.
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.
Hum Mutat
; 41(11): 1944-1956, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845050
7.
Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells.
J Biol Chem
; 294(17): 6809-6821, 2019 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850395
8.
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.
Hum Mol Genet
; 27(2): 295-306, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29145636
9.
Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2.
Proc Natl Acad Sci U S A
; 111(14): E1334-43, 2014 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706822
10.
Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival.
J Cell Sci
; 127(Pt 5): 1138-49, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24413176
11.
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.
Hum Mol Genet
; 22(19): 3894-905, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740938
12.
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.
Proc Natl Acad Sci U S A
; 107(49): 21158-63, 2010 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21078983
13.
Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25.
PLoS Genet
; 6(11): e1001199, 2010 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21124868
14.
Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.
Prog Retin Eye Res
; 89: 101036, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954332
15.
Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.
Biochemistry
; 50(44): 9511-9, 2011 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21928830
16.
Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.
Nat Commun
; 12(1): 5902, 2021 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625547
17.
Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.
Biochemistry
; 49(35): 7439-47, 2010 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20669900
18.
Oviductal glycoprotein (OVGP1, MUC9): a differentiation-based mucin present in serum of women with ovarian cancer.
Int J Gynecol Cancer
; 20(1): 16-22, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20130498
19.
Proteomics of photoreceptor outer segments identifies a subset of SNARE and Rab proteins implicated in membrane vesicle trafficking and fusion.
Mol Cell Proteomics
; 7(6): 1053-66, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18245078
20.
TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma.
Nat Med
; 26(4): 577-588, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094924