ArticleAmerican journal of human genetics2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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41citing papers in PubMed
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41 citing papers in PubMed, 76 citations in OpenAlex.
- Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.Nature genetics · 2026Article
- Mechanism of Rescue of NaInternational journal of molecular sciences · 2026Article
- On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase α1 subunit (ATP1A1).The Journal of general physiology · 2026Article
- Cross-modality representation and multi-sample integration of spatially resolved omics data.Briefings in bioinformatics · 2026Article
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- Association of the RecurrentNeurology. Genetics · 2025Article
- LncDARS-AS1 Regulates ATP1A1 Stability and Enhances NaAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Transient receptor potential vanilloid channel 2 contributes to multi-modal endoplasmic reticulum and perinuclear space dilations that can also be observed in prion-infected mice.Acta neuropathologica · 2025Article
- Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.Scientific reports · 2024Article
- Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.Annals of clinical and translational neurology · 2024Article
- Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.Internal medicine (Tokyo, Japan) · 2024Article
- ATP1A1-linked diseases require a malfunctioning protein product from one allele.Biochimica et biophysica acta. Molecular cell research · 2024Article
- Deep structured learning for variant prioritization in Mendelian diseases.Nature communications · 2023Article
- The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.Journal of neurology · 2023Article
- Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.European journal of neurology · 2023Article
- Distinct Molecular Features of NleG Type 3 Secreted Effectors Allow for Different Roles during Citrobacter rodentium Infection in Mice.Infection and immunity · 2023Article
- The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Frontiers in neurology · 2023Article
- Consequences of the Lack of TNFR1 in Ouabain Response in the Hippocampus of C57BL/6J Mice.Biomedicines · 2022Article
- Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.Human mutation · 2022Article
- De NovoNeurology · 2022Article
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Authors and funding
34 authors at 11 institutions in 6 countries.
Petra LassuthovaDNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague 150 06, Czech Republic.
Adriana P RebeloDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Gianina RavenscroftCentre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
Phillipa J LamontNeurogenetic Unit, Royal Perth Hospital, Perth, WA 6000, Australia.
Mark R DavisNeurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA 6009, Australia.
Fiore ManganelliDepartment of Neurosciences, Reproductive Sciences and Odontostomathology, Federico II University, Naples 80131, Italy.
Shawna M FeelyDepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Chelsea BaconDepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Dana Šafka BrožkováDNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague 150 06, Czech Republic.
Jana HaberlovaDepartment of Pediatric Neurology, 2(nd) Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague 150 06, Czech Republic.
Radim MazanecDepartment of Neurology, 2(nd) Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague 150 06, Czech Republic.
Feifei TaoDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Cima SaghiraDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Lisa AbreuDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Steve CourelDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Eric PowellDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; The Genesis Project foundation, Miami, FL 33136, USA.
Elena BugloDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Dana M BisDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Megan F BaxterCentre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
Royston W OngCentre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
Lorna MarnsNeurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA 6009, Australia.
Yi-Chung LeeDepartment of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, Department of Neurology, National Yang-Ming University School of Medicine, 10466 Taipei, Taiwan.
Yunhong BaiDepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Daniel G IsomDepartment of Pharmacology, Sylvester Comprehensive Cancer Center, and Center for Computational Sciences, University of Miami, Miami, FL 33136, USA.
René Barro-SoriaDepartment of Physiology and Biophysics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Ki W ChungDepartment of Biological Science, Kongju National University, Gongju 32588, Korea.
Steven S SchererDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
H Peter LarssonDepartment of Physiology and Biophysics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Nigel G LaingCentre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
Byung-Ok ChoiDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
Pavel SeemanDNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague 150 06, Czech Republic.
Michael E ShyDepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Lucio SantoroDepartment of Neurosciences, Reproductive Sciences and Odontostomathology, Federico II University, Naples 80131, Italy.
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: szuchner@med.miami.edu.
University of Miami · USCharles University · CZThe University of Western Australia · AUUniversity of Iowa · USFederico II University Hospital · ITQueen Elizabeth II Medical Centre · AUKongju National University · KRNational Yang Ming Chiao Tung University · TWRoyal Perth Hospital · AUSamsung Medical Center · KRUniversity of Pennsylvania · US
Funding
Uncovering new genes and disease modifiers for ALS and related disordersU54NS092091 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LINDSAY N ALFANO · 2014 to 2026
$19.8MtrainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MPolyunsaturated fatty acids as anti-arrhythmic agents.R01HL131461 · NHLBI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BARRO-SORIA, RENE, DYKXHOORN, DEREK MICHAEL · 2016 to 2024
$5.1MpH regulation of cell surface receptorsR35GM119518 · NIGMS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Daniel Isom · 2016 to 2026
$4.1MAxonal Injury in Demyelinating DiseaseR01NS043174 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI SCHERER, STEVEN SIMON · 2002 to 2011
$3.1MModulation of KCNQ1 channel activityR01GM109762 · NIGMS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI KASS, ROBERT S, LARSSON, HANS PETER · 2014 to 2022
$3.1MGenomic Studies in Charcot-Marie-Tooth DiseaseR01NS075764 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2012 to 2016
$3.0MTISSUE ENGINEERED HUMAN NEUROMUSCULAR JUNCTIONS FOR MODELING AXONAL NEUROPATHYR01NS094388 · NINDS · UNIVERSITY OF WASHINGTON · PI KIM, DEOK-HO · 2017 to 2021
$1.7MMolecular mechanisms of voltage-gated ion channelsR01NS043259 · NINDS · OREGON HEALTH & SCIENCE UNIVERSITY · PI LARSSON, HANS PETER · 2003 to 2006
$1.4MMolecular Mechanisms of Epilepsy-Causing Mutations in IKM channels.K01NS096778 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BARRO-SORIA, RENE · 2017 to 2019
$590kNHLBI NIH HHS R01 HL131461NIGMS NIH HHS R01 GM109762NIGMS NIH HHS R35 GM119518NINDS NIH HHS K01 NS096778NINDS NIH HHS R01 NS043174NINDS NIH HHS R01 NS043259NINDS NIH HHS R01 NS075764NINDS NIH HHS R01 NS094388NINDS NIH HHS U54 NS065712NINDS NIH HHS U54 NS092091
Abstract
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends on sharing sequence data on a global level. In this way-by combining data from seven countries on four continents-we were able to define mutations in ATP1A1, which encodes the alpha1 subunit of the Na
Indexed as
Genes, DominantAdultAgedAged, 80 and overAmino Acid SequenceCharcot-Marie-Tooth DiseaseChildFamilyFemaleHumansMaleMiddle AgedMutationPedigreeSodium-Potassium-Exchanging ATPaseYoung AdultATP1A1 protein, humanSodium-Potassium-Exchanging ATPaseATP1A1axonal neuropathyCharcot-Marie-ToothCMTgenetic matchmakingMendelian diseaseNa(+),K(+) ATPase
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