Detalhe da pesquisa
1.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
2.
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins.
Hum Mol Genet
; 30(17): 1649-1665, 2021 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34100078
3.
Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca2+-induced proteostasis disease stress.
Cell Mol Life Sci
; 79(3): 167, 2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35233680
4.
Dynamic expression of homeostatic ion channels in differentiated cortical astrocytes in vitro.
Pflugers Arch
; 474(2): 243-260, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34734327
5.
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
Hum Mol Genet
; 29(7): 1107-1120, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960914
6.
GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts.
Int J Mol Sci
; 23(10)2022 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628339
7.
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.
Hum Mutat
; 42(10): 1215-1220, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212451
8.
Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.
J Physiol
; 597(15): 3969-3983, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177533
9.
Drosophila ClC-a is required in glia of the stem cell niche for proper neurogenesis and wiring of neural circuits.
Glia
; 67(12): 2374-2398, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479171
10.
Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.
Hum Mol Genet
; 26(13): 2436-2450, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28398517
11.
Chloride Channels in Astrocytes: Structure, Roles in Brain Homeostasis and Implications in Disease.
Int J Mol Sci
; 20(5)2019 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30818802
12.
GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy.
Neurobiol Dis
; 119: 88-99, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30076890
13.
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia.
Muscle Nerve
; 2018 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29424939
14.
Expression of LRRC8/VRAC Currents in Xenopus Oocytes: Advantages and Caveats.
Int J Mol Sci
; 19(3)2018 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29498698
15.
Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.
J Physiol
; 595(22): 6993-7008, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905383
16.
Correction to: Dynamic expression of homeostatic ion channels in differentiated cortical astrocytes in vitro.
Pflugers Arch
; 474(2): 261, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34862579
17.
Investigation of LRRC8-Mediated Volume-Regulated Anion Currents in Xenopus Oocytes.
Biophys J
; 111(7): 1429-1443, 2016 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27705766
18.
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
Hum Mutat
; 37(1): 74-83, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26510092
19.
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Hum Mol Genet
; 23(19): 5069-86, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24824219
20.
Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.
J Physiol
; 593(18): 4111-27, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762128