Results 1 to 10 of about 2,132 (112)

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation [PDF]

Molecular Genetics & Genomic Medicine
Background Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural deafness, ataxia, intellectual impairment and electrolyte imbalances.
Shayan Shakeri, Sanaz Mohammadi, Forough Sadeghipour, Marjan Masoudi, Mona Entezam   +4 more
doaj   +3 more sources

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia-Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Desjardins C, Baik J, Bresciani L, Nilles C, Foucard C, Georget M, Daghsen L, Degos B, Méneret A, Roze E.   +9 more
europepmc   +2 more sources

Müller Glial Kir4.1 Channel Dysfunction in APOE4-KI Model of Alzheimer's Disease. [PDF]

Glia
APOE4 impairs Müller cell health by reducing Kir4.1 expression and buffering. APOE4 causes mitochondrial dysfunction with decreased ΔΨm and increased ROS. MitoQ restores Kir4.1 expression and reduces ROS in APOE4‐transfected cells. ABSTRACT Alzheimer's disease (AD), particularly late‐onset AD (LOAD), affects millions worldwide, with the apolipoprotein ...
Abhyankar SD, Xiao Y, Mahajan N, Luo Q, Cummins TR, Oblak AL, Lamb BT, Corson TW, Bhatwadekar AD.   +8 more
europepmc   +2 more sources

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player? [PDF]

J Neurosci Res
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Lange J, Zhao E, O'Connell E, Gillham O, McTague A.   +4 more
europepmc   +2 more sources

Discovery of a Novel and Potent Kir4.1 Inhibitor as a Safe and Rapid-Onset Antidepressant Agent in Mice. [PDF]

Adv Sci (Weinh)
The preferred derivative JX3212 demonstrates strong inhibitory activity against Kir4.1 with favorable druggability and shows significant antidepressant efficacy in vivo. Abstract Major depressive disorder is a serious psychiatric disorder for which novel and fast‐acting antidepressants are required.
Wang S, Zhou X, Li M, Zhang C, Xu H, He J, Zhan L, Gu Y, Gu H, Tu T, Liu H, Lu T, Zheng Y, Li J, Gao Z, Xu Y.   +15 more
europepmc   +2 more sources

The ribosome-associated protein RACK1 represses Kir4.1 translation in astrocytes and influences neuronal activity

Cell Reports, 2023
Summary: The regulation of translation in astrocytes, the main glial cells in the brain, remains poorly characterized. We developed a high-throughput proteomics screen for polysome-associated proteins in astrocytes and focused on ribosomal protein ...
Marc Oudart, Katia Avila-Gutierrez, Clara Moch, Elena Dossi, Giampaolo Milior, Anne-Cécile Boulay, Mathis Gaudey, Julien Moulard, Bérangère Lombard, Damarys Loew, Alexis-Pierre Bemelmans, Nathalie Rouach, Clément Chapat, Martine Cohen-Salmon   +13 more
doaj   +1 more source

Increased potassium excretion in children with monosymptomatic nocturnal enuresis: could it be related to Kir 4.1- KCNJ10 gene polymorphism?

The Turkish Journal of Pediatrics, 2020
Background and Objectives. There are controversial results in the literature regarding urinary electrolytes, especially potassium, in enuretic children.
Ayşe Balat, Mesut Parlak, Sibel Oğuzkan Balcı, Bülent Göğebakan, Mithat Büyükçelik, Nilgün Çöl, Seval Kul, Keriman Tınaztepe   +7 more
doaj   +1 more source

Ion channel-related hereditary hearing loss: a narrative review

Journal of Bio-X Research, 2021
. Sensorineural hearing loss is the most common sensory deficit in humans, with an estimated prevalence of 1 in 500 newborns. Approximately half of childhood hearing loss is attributed to genetic factors and can be classified as syndromic or non ...
Honglan Zheng, Wanning Cui, Zhiqiang Yan
doaj   +1 more source

Diverse functions of the inward-rectifying potassium channel Kir5.1 and its relationship with human diseases

Frontiers in Physiology, 2023
The inward-rectifying potassium channel subunit Kir5.1, encoded by Kcnj16, can form functional heteromeric channels (Kir4.1/5.1 and Kir4.2/5.1) with Kir4.1 (encoded by Kcnj10) or Kir4.2 (encoded by Kcnj15).
Chaojie Zhang, Chaojie Zhang, Chaojie Zhang, Chaojie Zhang, Jia Guo, Jia Guo, Jia Guo, Jia Guo   +7 more
doaj   +1 more source

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

Disease Models & Mechanisms, 2013
SUMMARY Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and ...
Fahad Mahmood, Monika Mozere, Anselm A. Zdebik, Horia C. Stanescu, Jonathan Tobin, Philip L. Beales, Robert Kleta, Detlef Bockenhauer, Claire Russell   +8 more
doaj   +1 more source