Associated Papers
Opening closed inward rectifier potassium channel doors.
Stary-Weinzinger A et al.
British Journal of Pharmacology, 2026
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Structure of the Ion Channel Kir7.1 and Implications for its Function in Normal and Pathophysiologic States.
Peisley A et al.
Biorxiv : the Preprint Server for Biology, 2024
The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
Hernandez CC et al.
American Journal of Physiology. Cell Physiology, 2023
De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.
Chen WX et al.
Human Genomics, 2022
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
A novel phenotype associated with the R162W variant in the KCNJ13 gene.
Schroeder M et al.
Ophthalmic Genetics, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Altered phosphatidylinositol regulation of mutant inwardly rectifying K+ Kir7.1 channels associated with inherited retinal degeneration disease.
Vera E et al.
The Journal of Physiology, 2021
Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis.
Ruberto G et al.
International Ophthalmology, 2020
G protein-coupled receptors differentially regulate glycosylation and activity of the inwardly rectifying potassium channel Kir7.1.
Carrington SJ et al.
The Journal of Biological Chemistry, 2018
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.
Srikrupa NN et al.
Clinical Genetics, 2018
Focus on Kir7.1: physiology and channelopathy.
Kumar M et al.
Channels (austin, Tex.), 2014
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Sergouniotis PI et al.
American Journal of Human Genetics, 2011