ArticleScience advances2021
Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin.
Open access · goldAbstract read
In one paragraph
Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders-Implications for Individuals with Rett Syndrome: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- [Adeno-associated virus-mediated gene therapy for genetic epilepsy: prospects and challenges].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
- Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.Progress in retinal and eye research · 2025Review
- Review
- Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.Children (Basel, Switzerland) · 2025Review
- Alternations in morphometric similarity network in mesial temporal epilepsy correlate to neuroinflammatory pathway gene transcriptions.Acta epileptologica · 2025Article
- Arming AAV9 with a Single-Chain Fragment Variable Antibody Against PD-1 for Systemic Glioblastoma Therapy.Molecular neurobiology · 2025Article
- New insights into tuberous sclerosis complex: from structure to pathogenesis.Frontiers in cell and developmental biology · 2025Review
- Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know.Jornal brasileiro de nefrologia · 2024Review
- Neurologic orphan diseases: Emerging innovations and role for genetic treatments.World journal of experimental medicine · 2023Review
- Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.BMC medicine · 2023Article
- Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.Nature communications · 2023Article
- Expression of 4E-BP1 in juvenile mice alleviates mTOR-induced neuronal dysfunction and epilepsy.Brain : a journal of neurology · 2022Article
- A Review of Targeted Therapies for Monogenic Epilepsy Syndromes.Frontiers in neurology · 2022Review
- AAV9 transduction mediated by systemic delivery of vector via retro-orbital injection in newborn, neonatal and juvenile mice.Experimental animals · 2021Article
- Review
- The Characterization of a Subependymal Giant Astrocytoma-Like Cell Line from Murine Astrocyte with mTORC1 Hyperactivation.International journal of molecular sciences · 2021Article
- Epilepsy in the mTORopathies: opportunities for precision medicine.Brain communications · 2021Review
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 5 institutions in 3 countries.
Pike-See CheahMolecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-2181-2502
Shilpa PrabhakarMolecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-7999-2000
David YellenMolecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-5827-8051
Roberta L BeauchampCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Xuan ZhangMolecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA.
Shingo KasamatsuDepartment of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA.
Roderick T BronsonRodent Histopathology Core Facility, Harvard Medical School, Boston, MA, USA.
Elizabeth A ThieleHerscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
David J KwiatkowskiBrigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-5668-5219
Anat Stemmer-RachamimovDepartment of Pathology, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0003-3846-5295
Bence GyörgyDepartment of Neurobiology and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA.
King-Hwa LingDepartment of Genetics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-3968-7263
Masao KanekiDepartment of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA.
Bakhos A TannousMolecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-7062-0684
Vijaya RameshCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Casey A MaguireMolecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-8681-5179
Xandra O BreakefieldMolecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA. breakefield@hms.harvard.edu.ORCID 0000-0001-6036-0399
Harvard University · USMassachusetts General Hospital · USUniversiti Putra Malaysia · MYBrigham and Women's Hospital · USHoward Hughes Medical Institute · US
Funding
Interdepartmental Neuroscience CenterP30NS045776 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BREAKEFIELD, XANDRA OWENS, TANNOUS, BAKHOS A · 2003 to 2018
$11.1MTuberous Sclerosis Complex Patients iPSC-derived NPCs and NCCs as Human Model Systems to Identify Novel TargetsR01NS109540 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI HAGGARTY, STEPHEN J, RAMESH, VIJAYA · 2019 to 2023
$2.5MEnhanced gene delivery for CNS and sensory disordersR01DC017117 · NIDCD · MASSACHUSETTS GENERAL HOSPITAL · PI MAGUIRE, CASEY A · 2019 to 2023
$1.8MTargeting Warburg Effect to Reverse Stress-Induced Insulin Resistance in BurnsR01GM115552 · NIGMS · MASSACHUSETTS GENERAL HOSPITAL · PI KANEKI, MASAO · 2016 to 2019
$1.3MGene therapy for tuberous sclerosisR61NS108232 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BREAKEFIELD, XANDRA OWENS, MAGUIRE, CASEY A · 2019 to 2020
$840kGene therapy for Tuberous SclerosisR33NS108232 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BREAKEFIELD, XANDRA OWENS, MAGUIRE, CASEY A · 2022 to 2022
$420kNIDCD NIH HHS R01 DC017117NIGMS NIH HHS R01 GM115552NINDS NIH HHS P30 NS045776NINDS NIH HHS R01 NS109540NINDS NIH HHS R33 NS108232NINDS NIH HHS R61 NS108232
Abstract
Tuberous sclerosis complex (TSC) results from loss of a tumor suppressor gene -
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What Socratic holds
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Read underepoch 390
Registered trials
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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 Socratic graph.