Detalhe da pesquisa
1.
Phospholipid-flippase chaperone CDC50A is required for synapse maintenance by regulating phosphatidylserine exposure.
EMBO J
; 40(21): e107915, 2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34585770
2.
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
3.
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
4.
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Int J Mol Sci
; 25(8)2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674104
5.
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
6.
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
7.
A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
Am J Hematol
; 98(12): 1877-1887, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671681
8.
TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate Transporter MCT1 Are Unique Components of the Photoreceptor Outer Segment Plasma Membrane.
Mol Cell Proteomics
; 20: 100088, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33933680
9.
Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic.
Proc Natl Acad Sci U S A
; 116(33): 16332-16337, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31371510
10.
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Hum Mutat
; 42(5): 491-497, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565221
11.
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
12.
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
13.
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
14.
Asparagine 905 of the mammalian phospholipid flippase ATP8A2 is essential for lipid substrate-induced activation of ATP8A2 dephosphorylation.
J Biol Chem
; 294(15): 5970-5979, 2019 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760526
15.
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
16.
Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.
Int J Mol Sci
; 22(1)2020 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33375396
17.
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Hum Mutat
; 40(12): 2353-2364, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397519
18.
Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.
EMBO J
; 34(5): 669-88, 2015 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595798
19.
A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.
Hum Mol Genet
; 24(20): 5915-29, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246500
20.
Photoreceptors at a glance.
J Cell Sci
; 128(22): 4039-45, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26574505