ArticleCancer cell2025
Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target.
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Article in Cancer cell, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
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Who cites it
6 citing papers in PubMed.
- Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.Clinical genetics · 2026Article
- Regulation of organic anion transporting polypeptide 1B1 transport function by lysine deacetylase 6.Molecular pharmacology · 2026Article
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Prevalence and Clinical Significance of Adult-Onset Cancer Predisposition Variants in Pediatric Oncology.medRxiv : the preprint server for health sciences · 2026Article
- Enolase 2-mediated lactylation-dependent disruption of the GNL3-MDM2-p53 axis in age-related osteoarthritis.Cellular & molecular biology letters · 2026Article
- The tumor microenvironment of medulloblastoma: from emerging biological insights to novel therapeutic targeting.Frontiers in oncology · 2026Review
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Authors and funding
37 authors.
Shiekh Tanveer AhmadCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Yiran LiCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Jesus Garcia-LopezCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Brian L GudenasCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Jennifer HadleyCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Leena PaulCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Stephanie C WuCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Alaa RefaatDepartment of Chemical Biology and Therapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Marija KojicFrazer Institute, The University of Queensland, Woolloongabba, QLD 4102, Australia.
Melissa BattsCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Taha SolimanCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Aaron PitreCell and Tissue Imaging Shared Resource, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Frederik ArnskötterHopp Children's Cancer Center Heidelberg (KiTZ), JRG Developmental Origins of Pediatric Cancers, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Frederique ZindyDepartment of Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Alun JonesInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4102, Australia.
Nathaniel R TwarogDepartment of Chemical Biology and Therapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Anand MayasundariDepartment of Chemical Biology and Therapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Brandon BianskiDepartment of Radiation Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Christopher TinkleDepartment of Radiation Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Abbas ShirinifardDepartment of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Laura JankeDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Meifen LuDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Sara A LewisCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Arzu Onar-ThomasDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Stefan M PfisterHopp Children's Cancer Center Heidelberg (KiTZ), Division Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Department of Pediatric Hematology and Oncology, Heidelberg University Hospital and National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany.
Amar GajjarDepartment of Oncology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Suzanne J BakerCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Martine F RousselDepartment of Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Zoran RankovicDepartment of Chemical Biology and Therapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Giles W RobinsonDepartment of Oncology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Brent A OrrDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Brandon WainwrightFrazer Institute, The University of Queensland, Woolloongabba, QLD 4102, Australia.
Anang A ShelatDepartment of Chemical Biology and Therapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Sebastian M WaszakSwiss Institute for Experimental Cancer Research, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland; Department of Neurology, University of California, San Francisco (UCSF), San Francisco, CA 94143, USA.
Lena M KutscherHopp Children's Cancer Center Heidelberg (KiTZ), JRG Developmental Origins of Pediatric Cancers, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Hong LinCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Paul A NorthcottCenter of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN 38105, USA. Electronic address: paul.northcott@stjude.org.
Funding
Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Shondra Michelle Miller · 1985 to 2026
$166.9MThe DNA Damage Response and Tumorigenesis in the BrainP01CA096832 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI BAKER, SUZANNE J. · 2003 to 2025
$38.0MMapping the Cerebellar Origins of Medulloblastoma SubgroupsR01CA270785 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Paul Northcott · 2023 to 2026
$2.8MNCI NIH HHS P01 CA096832NCI NIH HHS P30 CA021765NCI NIH HHS R01 CA270785
Abstract
Germline loss-of-function (LOF) variants in Elongator acetyltransferase complex subunit 1 (ELP1) are the most prevalent predisposing genetic events in childhood medulloblastoma (MB), accounting for ∼30% of the Sonic hedgehog (SHH) 3 subtype. The mechanism(s) by which germline ELP1 deficiency provokes SHH-MB pathogenesis remain unknown. Genetically engineered mice mimicking heterozygous Elp1 LOF (Elp1
Indexed as
Cerebellar NeoplasmsHedgehog ProteinsMedulloblastomaProto-Oncogene Proteins c-mdm2AnimalsApoptosisDisease Models, AnimalHumansMicePatched-1 ReceptorSignal TransductionTumor Suppressor Protein p53Xenograft Model Antitumor AssaysHedgehog ProteinsMDM2 protein, humanPatched-1 ReceptorProto-Oncogene Proteins c-mdm2SHH protein, humanTumor Suppressor Protein p53cerebellar developmentchildhood cancer predispositionElongator complexELP1genetically engineered mouse modelsgranule neuron progenitorsin vivo preclinical studiesmedulloblastomamulti-omicsSonic hedgehog signaling
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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.