ArticleAmerican journal of human genetics2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
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Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 118 papers, 1 of them a synthesis that pooled it.
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118citing papers in PubMed, 1 pooled it
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Who cites it
118 citing papers in PubMed, 1 synthesis or guideline pooled it, 187 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Pathogenic mutations in ATAD3A cause dysregulation of RagC/D-TFEB axis and disrupt lysosomal homeostasis.bioRxiv : the preprint server for biology · 2026Article
- Genetic Overlap Between Dilated Cardiomyopathy and Neurological Disorders: Insights from a Next-Generation Sequencing Study.Diagnostics (Basel, Switzerland) · 2026Article
- HeterozygousJIMD reports · 2026Article
- Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.Brain : a journal of neurology · 2026Review
- ATAD3 megadalton complex in Plasmodium falciparum is essential for mitochondrial and cellular viability.PLoS pathogens · 2026Article
- Allele-specific antisense oligonucleotide treatment rescuesbioRxiv : the preprint server for biology · 2026Article
- PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy.Molecular syndromology · 2026Article
- Malic enzyme 2 suppresses PINK1-Parkin-mediated mitophagy by stabilizing ATAD3A via competitive interaction with TRIM25.Cell death & disease · 2026Article
- Molecular interactome of HNRNPU reveals regulatory networks in neuronal differentiation and DNA methylation.Nucleic acids research · 2026Article
- ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.Developmental medicine and child neurology · 2026Article
- Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant.Journal of cellular and molecular medicine · 2026Article
- [A case of Harel-Yoon syndrome with seizures caused by anZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Functional analysis of human EED variants using Drosophila.Genetics · 2025Article
- Convergent and Divergent Mitochondrial Pathways as Causal Drivers and Therapeutic Targets in Neurological Disorders.Current issues in molecular biology · 2025Article
- Clinical and variant spectrum of patients harboringTranslational pediatrics · 2025Article
- Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Harel-Yoon syndrome caused by compound heterozygous ATAD3A variants.Human cell · 2025Article
- Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.Orphanet journal of rare diseases · 2025Article
- Transcriptomic signatures in response to antioxidants supplementation in Korean cattle beef,Frontiers in veterinary science · 2025Article
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
58 more citing papers are in PubMed but not listed here.
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Authors and funding
50 authors at 18 institutions in 4 countries.
Tamar HarelDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: harel.tamar@gmail.com.
Wan Hee YoonDepartment of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
Caterina GaroneMRC Mitochondrial Biology Unit, Cambridge CB2 OXY, UK.
Shen GuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zeynep Coban-AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Mohammad K EldomeryDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Megan T ChoGeneDx, Gaithersburg, MD 20877, USA.
Stephanie FoxMedical Genetics Department, Montreal Children's Hospital, Montreal, QC H4A 3J1, Canada.
Marjorie WithersDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Stephanie M BrooksDepartment of Pediatrics, The Ohio State University College of Medicine, Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Theodore ChiangHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Lita DuraineDepartment of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
Serkan ErdinCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Bo YuanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Yunru ShaoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Elie MoussallemDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Costanza LampertiUnit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan 20126, Italy.
Maria A DonatiMetabolic and Muscular Unit, Meyer Children's Hospital, University of Florence, Florence 50132, Italy.
Joshua D SmithDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Heather M McLaughlinGeneDx, Gaithersburg, MD 20877, USA.
Christine M EngDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Magdalena WalkiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Tommaso PippucciMedical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy.
Pamela MaginiMedical Genetics Unit, Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
Marco SeriMedical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy; Medical Genetics Unit, Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
Massimo ZevianiUnit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan 20126, Italy.
Michio HiranoDepartment of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Jill V HunterDepartment of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
Myriam SrourDepartment of Pediatrics, Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada.
Stefano ZanigniFunctional MR Unit, Policlinico S. Orsola - Malpighi, Bologna 40138, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna 40123, Italy.
Richard Alan LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Timothy E LotzeTexas Children's Hospital, Houston, TX 77030, USA; Department of Pediatric Neurology, Texas Children's Hospital, Houston, TX 77030, USA.
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, The University of Texas Health Science Center, Houston, TX 77030, USA.
Baylor-Hopkins Center for Mendelian Genomics
University of Washington Center for Mendelian Genomics
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Scott E HickeyDepartment of Pediatrics, The Ohio State University College of Medicine, Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Brett H GrahamDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Yaping YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Daniela BuhasMedical Genetics Department, Montreal Children's Hospital, Montreal, QC H4A 3J1, Canada; Human Genetics Department, McGill University, Montreal, QC H3A 0G4, Canada.
Donna M MartinDepartment of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, 48109; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Lorraine PotockiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Claudio GrazianoMedical Genetics Unit, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna 40138, Italy.
Hugo J BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Baylor College of Medicine · USBaylor Genetics · USUniversity of Bologna · ITTexas Children's Hospital · USFondazione IRCCS Istituto Neurologico Carlo Besta · ITHoward Hughes Medical Institute · USMontreal Children's Hospital · CAThe Ohio State University · USColumbia University Irving Medical Center · USMassachusetts General Hospital · USMcGill University · CAMeyer Children's Hospital · ITMRC Mitochondrial Biology Unit · GBNeurological Research Institute · USPoliclinico S.Orsola-Malpighi · ITThe University of Texas Health Science Center at Houston · USUniversity of Michigan–Ann Arbor · USUniversity of Washington · US
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MMEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MDevelopmental Mechanisms of the Chromodomain Gene Chd7R01DC009410 · NIDCD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MARTIN, DONNA M. · 2009 to 2018
$3.7MMedical Research Council MC_UP_1002/1NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG006542NICHD NIH HHS U54 HD083092NIDCD NIH HHS R01 DC009410NIGMS NIH HHS T32 GM007526NINDS NIH HHS R01 NS058529NINDS NIH HHS R35 NS105078NINDS NIH HHS U54 NS093793
Abstract
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. We also describe two families with biallelic variants in ATAD3A, including a homozygous variant in two siblings, and biallelic ATAD3A deletions mediated by nonallelic homologous recombination (NAHR) between ATAD3A and gene family members ATAD3B and ATAD3C. Tissue-specific overexpression of bor
Indexed as
AllelesMutationAdenosine TriphosphatasesAdultAnimalsATPases Associated with Diverse Cellular ActivitiesAxonsCardiomyopathiesChildChild, PreschoolDevelopmental DisabilitiesDNA Copy Number VariationsDrosophila melanogasterFemaleFibroblastsHomozygoteAdenosine TriphosphatasesATAD3A protein, humanATPases Associated with Diverse Cellular ActivitiesMembrane ProteinsMitochondrial ProteinsATAD3AcardiomyopathyCNVde novo variantdominant negativemitochondrial dynamicsneuropathyoptic atrophywhole-exome sequencing
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