Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1

FXYD proteins and sodium pump regulatory mechanisms

(2021) John Q. Yap et al.   JOURNAL OF GENERAL PHYSIOLOGY

ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features

(2021) Zehong Lin et al.   Frontiers in Pediatrics

Transient Electrical Currents Mediated by the Na+/K+-ATPase: A Tour from Basic Biophysics to Human Diseases

(2020) Cristina Moreno et al.   BIOPHYSICAL JOURNAL

FXYD protein isoforms differentially modulate human Na/K pump function

(2020) Dylan J. Meyer et al.   JOURNAL OF GENERAL PHYSIOLOGY

Genetic mechanisms of peripheral nerve disease

(2020) Marina Stavrou et al.   NEUROSCIENCE LETTERS

Binding of cardiotonic steroids to Na+,K+-ATPase in the E2P state

(2020) Ryuta Kanai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy

(2019) Nathalie Bernard-Marissal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function

(2019) Dylan J. Meyer et al.   BIOCHEMISTRY

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks

(2019) Kazutaka Nanba et al.   HYPERTENSION

ATP1A1 mutations cause intermediate Charcot‐Marie‐Tooth disease

(2019) Jin He et al.   HUMAN MUTATION

Insights into the pathogenesis of ATP1A1 ‐related CMT disease using patient‐specific iPSCs

(2019) Fiore Manganelli et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

(2019) Fabrizia Stregapede et al.   CLINICAL GENETICS

Structure and Mechanism of P-Type ATPase Ion Pumps

(2019) Mateusz Dyla et al.   Annual Review of Biochemistry

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

(2018) Petra Lassuthova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isoform-specific role of Na/K-ATPase α1 in skeletal muscle

(2018) Laura C. Kutz et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations

(2018) Andrea Accogli et al.   European Journal of Medical Genetics

CLCN2 chloride channel mutations in familial hyperaldosteronism type II

(2018) Ute I. Scholl et al.   NATURE GENETICS

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

(2018) Fabio L. Fernandes-Rosa et al.   NATURE GENETICS

A role for KCC3 in maintaining cell volume of peripheral nerve fibers

(2018) Bianca Flores et al.   NEUROCHEMISTRY INTERNATIONAL

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

(2018) Karl P. Schlingmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

(2018) Marisol Sampedro Castañeda et al.   BRAIN

Structure, Gating, and Regulation of the CFTR Anion Channel

(2018) László Csanády et al.   PHYSIOLOGICAL REVIEWS

On the effect of hyperaldosteronism-inducing mutations in Na/K pumps

(2017) Dylan J. Meyer et al.   JOURNAL OF GENERAL PHYSIOLOGY

Familial hyperaldosteronism type III

(2017) S Monticone et al.   JOURNAL OF HUMAN HYPERTENSION

A novel somatic mutation 145–147delETEinsK in KCNJ5 increases aldosterone production

(2017) F-F Zheng et al.   JOURNAL OF HUMAN HYPERTENSION

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

(2017) José Berciano et al.   JOURNAL OF NEUROLOGY

The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease

(2017) Michael V. Clausen et al.   Frontiers in Physiology

Intracellular Requirements for Passive Proton Transport through the Na + ,K + -ATPase

(2016) Kevin S. Stanley et al.   BIOPHYSICAL JOURNAL

Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of the Plasma Membrane Ca2+-ATPase ATP2B3

(2016) Philipp Tauber et al.   ENDOCRINOLOGY

Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase orCACNA1DGene Mutations

(2016) Takumi Kitamoto et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Role of voltage-gated calcium channels in the regulation of aldosterone production from zona glomerulosa cells of the adrenal cortex

(2016) Paula Q. Barrett et al.   JOURNAL OF PHYSIOLOGY-LONDON

Genetic causes of hypomagnesemia, a clinical overview

(2016) Daan H. H. M Viering et al.   PEDIATRIC NEPHROLOGY

Human CNNM2 is not a Mg2+ transporter per se

(2016) Gerhard Sponder et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

(2016) Kristopher T. Kahle et al.   Science Signaling

Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

(2016) Kristopher T. Kahle et al.   Science Signaling

ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease

(2016) Thomas Friedrich et al.   Frontiers in Physiology

Insights into the Pathology of the α3 Na+/K+-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models

(2016) Thomas H. Holm et al.   Frontiers in Physiology

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

(2016) Georgios Daniil et al.   EBioMedicine

Genetics of Aldosterone-Producing Adenoma in Korean Patients

(2016) A. Ram Hong et al.   PLoS One

Importance of the Voltage Dependence of Cardiac Na/K ATPase Isozymes

(2015) Christopher M. Stanley et al.   BIOPHYSICAL JOURNAL

Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype

(2015) Ute I. Scholl et al.   CLINICAL ENDOCRINOLOGY

Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas

(2015) Tobias Åkerström et al.   ENDOCRINE-RELATED CANCER

Pathogenesis of Adrenal Aldosterone-Producing Adenomas Carrying Mutations of the Na+/K+-ATPase

(2015) J. Stindl et al.   ENDOCRINOLOGY

Clinical Characteristics of Somatic Mutations in Chinese Patients With Aldosterone-Producing AdenomaNovelty and Significance

(2015) Fang-Fang Zheng et al.   HYPERTENSION

Prevalence and Characterization of Somatic Mutations in Chinese Aldosterone-Producing Adenoma Patients

(2015) Baojun Wang et al.   MEDICINE

Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas

(2015) Celso E. Gomez-Sanchez et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

(2015) J. H. F. de Baaij et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

(2015) Eleni Panagiotakaki et al.   Orphanet Journal of Rare Diseases

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

(2015) Louis Viollet et al.   PLoS One

Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands

(2015) Koshiro Nishimoto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

K-Cl cotransporters, cell volume homeostasis, and neurological disease

(2015) Kristopher T. Kahle et al.   TRENDS IN MOLECULAR MEDICINE

Regulated phosphorylation of the K-Cl cotransporter KCC3 is a molecular switch of intracellular potassium content and cell volume homeostasis

(2015) Norma C. Adragna et al.   Frontiers in Cellular Neuroscience

Prevalence and clinical correlates of somatic mutation in aldosterone producing adenoma-Taiwanese population

(2015) Vin-Cent Wu et al.   Scientific Reports

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

(2015) Ute I Scholl et al.   eLife

Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure

(2014) María Ángeles Corral-Rodríguez et al.   BIOCHEMICAL JOURNAL

Sodium and Proton Effects on Inward Proton Transport through Na/K Pumps

(2014) Travis J. Mitchell et al.   BIOPHYSICAL JOURNAL

Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma

(2014) Fabio Luiz Fernandes-Rosa et al.   HYPERTENSION

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

(2014) Michelle K Demos et al.   Orphanet Journal of Rare Diseases

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

(2014) Francisco J. Arjona et al.   PLoS Genetics

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

(2014) Vincent Timmerman et al.   Genes

Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status

(2013) Christina E. Hoei-Hansen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Somatic ATP1A1 , ATP2B3 , and KCNJ5 Mutations in Aldosterone-Producing Adenomas

(2013) Tracy Ann Williams et al.   HYPERTENSION

A Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type III

(2013) Silvia Monticone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Crystal structure of a Na+-bound Na+,K+-ATPase preceding the E1P state

(2013) Ryuta Kanai et al.   NATURE

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

(2013) Elena A B Azizan et al.   NATURE GENETICS

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

(2013) Felix Beuschlein et al.   NATURE GENETICS

Zona glomerulosa cells of the mouse adrenal cortex are intrinsic electrical oscillators

(2012) Changlong Hu et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

(2012) Hendrik Rosewich et al.   LANCET NEUROLOGY

The PMP22 Gene and Its Related Diseases

(2012) Jun Li et al.   MOLECULAR NEUROBIOLOGY

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5

(2012) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia

(2011) Marchel Stuiver et al.   AMERICAN JOURNAL OF HUMAN GENETICS

P-Type ATPases

(2011) Michael G. Palmgren et al.   Annual Review of Biophysics

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

(2011) M. Choi et al.   SCIENCE

The Rapid-onset Dystonia Parkinsonism Mutation D923N of the Na+,K+-ATPase α3 Isoform Disrupts Na+Interaction at the Third Na+Site

(2010) Anja Pernille Einholm et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurological disease mutations compromise a C-terminal ion pathway in the Na+/K+-ATPase

(2010) Hanne Poulsen et al.   NATURE

Hypertension artérielle endocrine

(2010) L. Amar et al.   REVUE DE MEDECINE INTERNE

The Plasma Membrane Ca2+ ATPase and the Plasma Membrane Sodium Calcium Exchanger Cooperate in the Regulation of Cell Calcium

(2010) M. Brini et al.   Cold Spring Harbor Perspectives in Biology

Charcot–Marie–Tooth disease

(2009) Kinga Szigeti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional roles of Na,K-ATPase subunits

(2008) Käthi Geering   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

SLC41A1 Is a Novel Mammalian Mg2+Carrier

(2008) Martin Kolisek et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Epilepsy as part of the phenotype associated withATP1A2mutations

(2007) Liesbet Deprez et al.   EPILEPSIA