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1.
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.
Hum Genet
; 143(5): 667-681, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38578438
2.
Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments.
J Biol Chem
; 292(46): 19055-19065, 2017 11 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-28972156
3.
Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
J Biol Chem
; 290(51): 30406-16, 2015 Dec 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-26453302
4.
Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.
J Neurol
; 2024 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38758281
5.
Dual-color Colocalization in Single-molecule Localization Microscopy to Determine the Oligomeric State of Proteins in the Plasma Membrane.
Bio Protoc
; 13(13): e4749, 2023 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37456335
6.
Corrigendum: ClC-3 regulates the excitability of nociceptive neurons and is involved in inflammatory processes within the spinal sensory pathway.
Front Cell Neurosci
; 17: 1186435, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37126473
7.
Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy.
Front Mol Neurosci
; 15: 872407, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35721313
8.
Determination of oligomeric states of proteins via dual-color colocalization with single molecule localization microscopy.
Elife
; 112022 10 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36205395
9.
ClC-3 regulates the excitability of nociceptive neurons and is involved in inflammatory processes within the spinal sensory pathway.
Front Cell Neurosci
; 16: 920075, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-37124866
10.
Zinc modulation of proton currents in a new voltage-gated proton channel suggests a mechanism of inhibition.
FEBS J
; 287(22): 4996-5018, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32160407
11.
Reconstitution and NMR Characterization of the Ion-Channel Accessory Subunit Barttin in Detergents and Lipid-Bilayer Nanodiscs.
Front Mol Biosci
; 6: 13, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30931313
12.
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.
Front Physiol
; 8: 269, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28555110
13.
High density and ligand affinity confer ultrasensitive signal detection by a guanylyl cyclase chemoreceptor.
J Cell Biol
; 206(4): 541-57, 2014 Aug 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-25135936
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