研究者氏名	中村幸恵
	ナカムラサチエ
URL	http://kaken.nii.ac.jp/d/r/20382955.ja.html
所属	自治医科大学
部署	医学部小児科
職名
J-Global ID	201401088746698154

研究キーワード

アデノ随伴ウィルス ,グルコーストランスポーター1欠損症 ,グルコーストランスポーター1

研究分野

ライフサイエンス / 胎児医学、小児成育学 /

経歴

2020年4月

現在

自治医科大学医学部講師

もっとみる

論文

12 3 >

Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome.

Sachie Nakamura Yasushi Ito Hiroko Hayakawa Shiho Aoki Takanori Yamagata Hitoshi Osaka

Molecular genetics and metabolism reports 34 100954-100954 2023年3月

OBJECTIVE: We assessed the usefulness of flow cytometry as a functional assay to measure glucose transporter 1 (GLUT1) levels on the surface of red blood cells (RBCs) from Japanese patients with glucose transporter 1 deficiency syndrome (Glut1DS)....

Early distribution of18 F-labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non-human primates.

Shinichi Kumagai Takeshi Nakajima Kuniko Shimazaki Takeharu Kakiuchi Norihiro Harada Hiroyuki Ohba Yoshiyuki Onuki Naomi Takino Mika Ito Makoto Sato Sachie Nakamura Hitoshi Osaka Takanori Yamagata Kensuke Kawai Shin-Ichi Muramatsu

The journal of gene medicine 25(1) e3457 2023年1月

BACKGROUND: The delivery of adeno-associated virus (AAV) vectors via the cerebrospinal fluid (CSF) has emerged as a valuable method for widespread transduction in the central nervous system. Although infusion into the cerebral ventricles is a comm...

Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1.

Sachie Nakamura Hitoshi Osaka Shin-Ichi Muramatsu Naomi Takino Mika Ito Eriko F Jimbo Chika Watanabe Shuji Hishikawa Takeshi Nakajima Takanori Yamagata

Gene therapy 28(6) 329-338 2021年6月

Glucose transporter 1 deficiency syndrome (GLUT1DS) is caused by haplo-insufficiency of SLC2A1, which encodes GLUT1, resulting in impaired hexose transport into the brain. Previously, we generated a tyrosine-mutant AAV9/3 vector in which SLC2A1 wa...

Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1.

Yoshie Kurokawa Hitoshi Osaka Takeshi Kouga Eriko Jimbo Kazuhiro Muramatsu Sachie Nakamura Yuki Takayanagi Tatsushi Onaka Shin-Ichi Muramatsu Takanori Yamagata

Human gene therapy 32(11-12) 589-598 2021年6月

Niemann-Pick disease type C1 (NPC1) is a fatal congenital neurodegenerative disorder caused by mutations in the NPC1 gene, which is involved in cholesterol transport in lysosomes. Broad clinical manifestations of NPC1 include liver failure, pulmon...

Gene therapy for Glut1-deficient mouse using an adeno-associated virus vector with the human intrinsic GLUT1 promoter.

Sachie Nakamura Shin-Ichi Muramatsu Naomi Takino Mika Ito Eriko F Jimbo Kuniko Shimazaki Tatsushi Onaka Sumio Ohtsuki Tetsuya Terasaki Takanori Yamagata Hitoshi Osaka

The journal of gene medicine 20(4) e3013 2018年4月 [査読有り]

BACKGROUND: We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene, encoding glucose transporter type 1 (GLUT1), was expressed under the human endogenous GLUT1 promoter (AAV-GLUT1). We examined whether AAV-GLUT1 adminis...

MISC

Inflammatory serum cytokines and chemokines increase associated with the disease extent in pediatric Langerhans cell histiocytosis

Akira Morimoto Yukiko Oh Sachie Nakamura Yoko Shioda Tomomi Hayase Toshihiko Imamura Kazuko Kudo Shinsaku Imashuku

CYTOKINE 97 73-79 2017年9月

Objective: Langerhans cell histiocytosis (LCH) is characterized by immature dendritic cell proliferation, infiltration of LCH lesions by various inflammatory cells, and a lesional cytokine storm. It is classified into three groups on the basis of ...

Gene Therapy for a Mouse Model of Glucose Transporter-1 Deficiency Syndrome

Sachie Nakamura Hitoshi Osaka Shin-ichi Muramatsu Naomi Takino Mika Ito Shiho Aoki Eriko F. Jimbo Kuniko Shimazaki Tatsushi Onaka Sumio Ohtsuki Tetsuya Terasaki Takanori Yamagata

MOLECULAR THERAPY 25(5) 108-108 2017年5月

眼球突出で発症したB前駆型急性リンパ性白血病/非ホジキンリンパ腫の2例

門田行史中瀬葉子中村幸恵早瀬朋美翁由紀子柏井良文郡司勇治今村俊彦森本哲桃井真里子

小児科臨床 64(9) 2047-2051 2011年9月

急性リンパ性白血病/非ホジキンリンパ腫の初発症状の5%に眼球突出があり、視力の保持の観点からは重要な所見である。今回我々は視力について異なる転帰をとった2例を経験した。症例1は2歳の男児。主訴は右眼球突出。眼症状以外の所見なく、CTで眼窩内腫瘤があり、発症1ヵ月時に摘出術を実施し、病理像はsmall round cell tumorであった。骨髄穿刺で芽球を67%認め、B前駆型急性リンパ性白血病(ALL)と診断し、発症後8週目から化学療法を開始した。眼窩の残存腫瘤は速やかに消失し寛解したが...