ArticleeLife2021
A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation.
Open access · goldAbstract read
In one paragraph
Article in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
1.1field-weighted citation impact, top 22% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.International journal of molecular sciences · 2026Review
- ATM-kinase deficiency triggers early multi-compartment remodeling of the cerebellar microenvironment.Acta neuropathologica communications · 2026Article
- Organizers in a dish: Modeling human CNS morphogenesis.Developmental cell · 2026Review
- Pathological mechanisms of motor dysfunction in familial Danish dementia: insights from a knock-in rat model.Journal of neuroinflammation · 2025Article
- Purkinje cell development and degeneration in the spastic Han-Wistar rat model of ataxia.Research square · 2025Article
- Induced pluripotent stem cells carrying novel APTX mutations presented defective neural differentiation with the accumulation of DNA single-strand breaks.Cell death discovery · 2025Article
- Purkinje cell development and degeneration in the spastic Han-Wistar rat model of ataxia.bioRxiv : the preprint server for biology · 2025Article
- ATM deficiency drives phenotypic diversity and Purkinje cell degeneration in a macaque model of ataxia-telangiectasia.Cell reports. Medicine · 2025Article
- Infrared Laser Stimulation of Purkinje Cells Primarily Depends on TRP Channel Activation.Neuroscience bulletin · 2025Article
- Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes.IUBMB life · 2025Review
- Daily oscillations of neuronal membrane capacitance.Cell reports · 2024Article
- Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.Cerebellum (London, England) · 2024Article
- A-T neurodegeneration and DNA damage-induced transcriptional stress.DNA repair · 2024Review
- Article
- Can accelerated ageing models inform us on age-related tauopathies?Aging cell · 2023Review
- CatWalk XT gait parameters: a review of reported parameters in pre-clinical studies of multiple central nervous system and peripheral nervous system disease models.Frontiers in behavioral neuroscience · 2023Review
- Review
- Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies.Frontiers in systems neuroscience · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 3 institutions in 2 countries.
Harvey Perez *The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
May F Abdallah *The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Jose I Chavira *The Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Angelina S NorrisThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Martin T EgelandThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Karen L VoThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Callan L BuechsenschuetzThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Valentina SanghezThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Jeannie L KimThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Molly PindDepartment of Biochemistry and Medical Genetics,Max Rady College of Medicine, University of Manitoba, Manitoba, Canada.
Kotoka NakamuraDepartment of Pathology & Laboratory Medicine, David Geffen School of Medicine, Los Angeles, United States.
Geoffrey G HicksDepartment of Biochemistry and Medical Genetics,Max Rady College of Medicine, University of Manitoba, Manitoba, Canada.
Richard A GattiDepartment of Pathology & Laboratory Medicine, David Geffen School of Medicine, Los Angeles, United States.
Joaquin MadrenasThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.ORCID 0000-0001-6191-3733
Michelina IacovinoThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.
Peter J McKinnonCenter for Pediatric Neurological Disease Research, St. Jude Pediatric Translational Neuroscience Initiative, St. Jude Children's Research Hospital, Memphis, United States.
Paul J MathewsThe Lundquist Institute for Biomedical Innovation, Harbor-UCLA Medical Center, Torrance, United States.ORCID 0000-0002-1991-0798
Harbor–UCLA Medical Center · USUniversity of Manitoba · CASt. Jude Children's Research Hospital · US
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MThe DNA Damage Response and Tumorigenesis in the BrainP01CA096832 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI BAKER, SUZANNE J. · 2003 to 2025
$38.0MThe Effect of Nanoparticle Encapsulated Resveratrol on Treatment of PeriodontitisKL2TR001882 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Elizabeta Nemeth · 2016 to 2026
$13.1MATM and DNA Damage in the Nervous SystemR01NS037956 · NINDS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI MCKINNON, PETER J · 1998 to 2022
$7.6MModified neural stem cells for glycosylation-independent treatment of MPS IIIBR33NS096044 · NINDS · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI IACOVINO, MICHELINA · 2019 to 2019
$576kAtaxia Telangiectasia: Elucidating Disease Pathogenesis and Testing New TreatmentsR21NS108117 · NINDS · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI MATHEWS, PAUL JAMES · 2018 to 2019
$545kA New Mouse Model of Ataxia-Telangiectasia for Testing Therapeutic Read-Through CompoundsR03NS103066 · NINDS · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI MATHEWS, PAUL JAMES · 2018 to 2019
$154kNCATS NIH HHS KL2 TR001882NCATS NIH HHS UL1 TR001881NCI NIH HHS P01 CA096832NINDS NIH HHS R01 NS037956NINDS NIH HHS R03 NS103066NINDS NIH HHS R21 NS108117NINDS NIH HHS R33 NS096044
Abstract
Ataxia Telangiectasia (A-T) and Ataxia with Ocular Apraxia Type 1 (AOA1) are devastating neurological disorders caused by null mutations in the genome stability genes, A-T mutated (
Indexed as
AnimalsAtaxia TelangiectasiaAtrophyCerebellumCodon, NonsenseDisease Models, AnimalFemaleMaleMicePurkinje CellsCodon, NonsenseataxiaAtaxia Telangiectasiacancercerebellummouseneurosciencepurkinje neuronsthymus
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.