Takanori Yamagata 研究室

主宰者：Takanori Yamagata

自治医科大学

AI 要約（直近 5 年の研究成果）

この研究室は、遺伝性疾患と代謝疾患の原因解明および治療法開発を主要な研究テーマとしています。特に、ライソゾーム病やミトコンドリア病などの遺伝子異常に起因する難治性疾患に焦点を当てており、患者由来の細胞や動物モデルを用いた機能解析を通じて、病態のメカニズムを調査しています。研究手法としては、全エクソーム解析などの遺伝子解析によって患者の疾患原因遺伝子を同定し、その後、患者から採取した線維芽細胞や組織培養細胞を用いたin vitro実験、ならびにマウスなどの動物モデルを用いたin vivo研究を組み合わせています。さらに、細胞内のエネルギー産生経路や炎症マーカーなど、複数の生物学的指標を測定することで、疾患の進行メカニズムや治療効果の評価に関する知見を蓄積しています。主要な発見として、いくつかの遺伝子変異が神経発達や筋肉機能、心機能に影響を与えることが報告されています。同時に、既存医薬品の新たな治療効果の探索や、遺伝子治療の評価方法の開発など、臨床応用を視野に入れた基礎研究も積極的に推進されています。これらの研究を通じて、現在のところ治療法が限定的な難病患者に対する新たな治療戦略の構築を目指しています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

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研究成果（57 件）

[2026] AAV9/hGLA gene therapy reduces podocyte GL-3 accumulation in a Fabry disease mouse model
DOI: https://doi.org/10.1016/j.ymgme.2026.110137
[2026] An Analysis of Biomarkers for the Evaluation of Gene Therapy in Niemann–Pick Disease Type C1 Mice
DOI: https://doi.org/10.1177/10430342251412391
[2025] Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals
DOI: https://doi.org/10.1016/j.braindev.2025.104497
[2025] Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly
DOI: https://doi.org/10.1038/s41439-025-00314-2
[2024] Developmental process of the understanding of linguistic register in children: A comparison of typically developing children, autistic children, and children with Williams syndrome
DOI: https://doi.org/10.1002/aur.3219
[2024] Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome
DOI: https://doi.org/10.1038/s41598-024-62445-w
[2024] Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors
DOI: https://doi.org/10.1038/s41598-024-55293-1
[2024] Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome
DOI: https://doi.org/10.1007/s10803-023-06205-1
[2024] Temporal Trend of the SARS-CoV-2 Omicron Variant and RSV in the Nasal Cavity and Accuracy of the Newly Developed Antigen-Detecting Rapid Diagnostic Test
DOI: https://doi.org/10.3390/diagnostics14010119
[2024] Gaze behavior of Williams Syndrome and ASD
DOI: https://doi.org/10.4992/pacjpa.88.0_2c-072-po

続きを表示（残り 47 件）

[2024] Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
DOI: https://doi.org/10.1038/s41598-023-50668-2
[2024] An unstable variant of GAP43 leads to neurodevelopmental deficiency
DOI: https://doi.org/10.1038/s41598-024-83445-w
[2024] A female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain
DOI: https://doi.org/10.1016/j.bdcasr.2024.100042
[2024] A female patient with paramyotonia congenita. Part 1: Combination therapy of lacosamide and topiramate
DOI: https://doi.org/10.1016/j.bdcasr.2024.100041
[2023] The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-19
DOI: https://doi.org/10.1016/j.braindev.2023.08.008
[2023] Development of emotion comprehension in children with autism spectrum disorder and Williams syndrome
DOI: https://doi.org/10.1002/aur.3053
[2023] Impact of the omicron phase on a highly advanced medical facility in Japan
DOI: https://doi.org/10.3389/fped.2023.1201825
[2023] Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease
DOI: https://doi.org/10.1016/j.braindev.2023.06.006
[2023] Investigation of the efficacy and adverse effects of lacosamide over 36 months
DOI: https://doi.org/10.1016/j.yebeh.2023.109227
[2023] Neonatal respiratory support related to lung function abnormalities in school-age children with bronchopulmonary dysplasia
DOI: https://doi.org/10.1038/s41372-023-01609-4
[2023] Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease
DOI: https://doi.org/10.1016/j.ymgmr.2022.100951
[2023] Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome
DOI: https://doi.org/10.1016/j.ymgmr.2022.100954
[2023] Hemorrhagic duodenal ulcer as a rare complication prior to antiplatelet therapy for Kawasaki disease
DOI: https://doi.org/10.1111/ped.15628
[2022] Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause
DOI: https://doi.org/10.1016/j.braindev.2022.03.005
[2022] WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction
DOI: https://doi.org/10.1093/braincomms/fcac304
[2022] Early distribution of18 F‐labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non‐human primates
DOI: https://doi.org/10.1002/jgm.3457
[2022] A Japanese patient with neonatal biotin-responsive basal ganglia disease
DOI: https://doi.org/10.1038/s41439-022-00210-z
[2022] Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan
DOI: https://doi.org/10.1007/s10803-022-05740-7
[2022] Diagnostic accuracy of a novel SARS CoV-2 rapid antigen test and usefulness of specimens collected from the anterior nasal cavity
DOI: https://doi.org/10.1016/j.ijid.2022.09.018
[2022] The ATRX splicing variant c.21-1G>A is asymptomatic
DOI: https://doi.org/10.1038/s41439-022-00212-x
[2022] A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis
DOI: https://doi.org/10.1536/ihj.21-859
[2022] Successful Management in an Infant Patient of PHACE Syndrome with a Complicated Aortic Arch Anomaly
DOI: https://doi.org/10.1155/2022/5947951
[2022] A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
DOI: https://doi.org/10.1002/mgg3.2008
[2022] Case Report: Anterior Scleritis Presenting as a Primary Ocular Manifestation in Multisystem Inflammatory Syndrome in Children With COVID-19
DOI: https://doi.org/10.3389/fped.2022.943652
[2022] A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
DOI: https://doi.org/10.1038/s41439-022-00198-6
[2022] An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant
DOI: https://doi.org/10.1536/ihj.21-722
[2022] Reduction of acute gastric volvulus in a 3-year-old using a balloon-attached endoscope combined with gel immersion endoscopy
DOI: https://doi.org/10.1007/s12328-021-01566-5
[2022] Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication
DOI: https://doi.org/10.1016/j.ebr.2022.100547
[2022] Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ
DOI: https://doi.org/10.1297/cpe.2021-0065
[2022] Developmental changes of the neural mechanisms underlying level 2 visual perspective‐taking: A functional near‐infrared spectroscopy study
DOI: https://doi.org/10.1002/dev.22229
[2022] Continuous cyclosporine a infusion in patients with severe Kawasaki disease
DOI: https://doi.org/10.1111/ped.15280
[2022] Establishment of a Flow Cytometry Screening Method for Patients with Glucose Transporter 1 Deficiency Syndrome
DOI: https://doi.org/10.2139/ssrn.4238734
[2021] Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy
DOI: https://doi.org/10.1002/jmd2.12259
[2021] Valine metabolites analysis in ECHS1 deficiency
DOI: https://doi.org/10.1016/j.ymgmr.2021.100809
[2021] Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
DOI: https://doi.org/10.1038/s41439-021-00165-7
[2021] Greater reliance on proprioceptive information during a reaching task with perspective manipulation among children with autism spectrum disorders
DOI: https://doi.org/10.1038/s41598-021-95349-0
[2021] Visualizing Neuropharmacological Effects of Guanfacine Extended Release in Attention Deficit Hyperactivity Disorder Using Functional Near-Infrared Spectroscopy
DOI: https://doi.org/10.3389/fnrgo.2021.657657
[2021] Efficacy and safety associated with the infusion speed of intravenous immunoglobulin for the treatment of Kawasaki disease: a randomized controlled trial
DOI: https://doi.org/10.1186/s12969-021-00601-6
[2021] Lack of persisting antibody in a post‐transplant patient after vaccine‐strain varicella
DOI: https://doi.org/10.1111/petr.14070
[2021] Multifocal and extrapulmonary tuberculosis due to immunosuppressants
DOI: https://doi.org/10.1111/ped.14538
[2021] Two cases of DYNC1H1 mutations with intractable epilepsy
DOI: https://doi.org/10.1016/j.braindev.2021.05.005
[2021] Solitary rectal ulcer syndrome: A Misleading term
DOI: https://doi.org/10.1111/ped.14587
[2021] Forced normalization of Lennox-Gastaut syndrome using lacosamide: A case report
DOI: https://doi.org/10.1016/j.braindev.2021.05.006
[2021] MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
DOI: https://doi.org/10.1038/s41439-021-00142-0
[2021] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
DOI: https://doi.org/10.1007/s10803-021-04910-3
[2021] Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic <scp>l</scp>-amino acid decarboxylase deficiency
DOI: https://doi.org/10.1093/braincomms/fcab078
[2021] Clinical Impact of Bacteremia Due to &lt;i&gt;Staphylococcus saprophyticus&lt;/i&gt;
DOI: https://doi.org/10.4236/aid.2021.111002

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AI 要約（直近 5 年の研究成果）

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研究成果（57 件）

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