Rett syndrome and stem cell research

Keita Tsujimura, Kinichi Nakashima

研究成果: 著書/レポートタイプへの貢献

抄録

Rett syndrome (RTT) is a devastating neurodevelopmental disorder resulting from mutations in the X-linked gene encoding methyl-CpG-binding pro- tein 2 (MECP2). MECP2 mutations are also associated with other neurodevelop- mental diseases, including autism and schizophrenia. Therefore, elucidating the mechanism of RTT can contribute to understanding the pathogenesis of a wide range of neurodevelopmental diseases. Despite its importance, however, the RTT pathogenesis remains unclear, and effective therapeutic treatment has not been developed. Offering an opportunity to move toward this goal, however, is the recent advance in the stem cell research field of the development of induced pluripotent stem cell (iPSC) technology. This technology can yield important insights into dis- ease pathophysiology and has the potential to provide disease models for screening new drugs. Here, we discuss applications of recent stem cell technology to the field of research on RTT and describe the stem cell biology of RTT pathogenesis.

元の言語英語
ホスト出版物のタイトルStem Cell Genetics for Biomedical Research
ホスト出版物のサブタイトルPast, Present, and Future
出版者Springer International Publishing
ページ27-41
ページ数15
ISBN(電子版)9783319906959
ISBN(印刷物)9783319906942
DOI
出版物ステータス出版済み - 6 27 2018

Fingerprint

Rett Syndrome
Stem Cell Research
Stem cells
Methyl-CpG-Binding Protein 2
Technology
Cytology
Stem Cells
Gene encoding
Induced Pluripotent Stem Cells
X-Linked Genes
Mutation
Preclinical Drug Evaluations
Autistic Disorder
Screening
Research
Cell Biology
Schizophrenia
Pharmaceutical Preparations
Therapeutics

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

これを引用

Tsujimura, K., & Nakashima, K. (2018). Rett syndrome and stem cell research. : Stem Cell Genetics for Biomedical Research: Past, Present, and Future (pp. 27-41). Springer International Publishing. https://doi.org/10.1007/978-3-319-90695-9_3

Rett syndrome and stem cell research. / Tsujimura, Keita; Nakashima, Kinichi.

Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing, 2018. p. 27-41.

研究成果: 著書/レポートタイプへの貢献

Tsujimura, K & Nakashima, K 2018, Rett syndrome and stem cell research. : Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing, pp. 27-41. https://doi.org/10.1007/978-3-319-90695-9_3
Tsujimura K, Nakashima K. Rett syndrome and stem cell research. : Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing. 2018. p. 27-41 https://doi.org/10.1007/978-3-319-90695-9_3
Tsujimura, Keita ; Nakashima, Kinichi. / Rett syndrome and stem cell research. Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing, 2018. pp. 27-41
@inbook{808c5b982a5743868351c63fcb69352e,
title = "Rett syndrome and stem cell research",
abstract = "Rett syndrome (RTT) is a devastating neurodevelopmental disorder resulting from mutations in the X-linked gene encoding methyl-CpG-binding pro- tein 2 (MECP2). MECP2 mutations are also associated with other neurodevelop- mental diseases, including autism and schizophrenia. Therefore, elucidating the mechanism of RTT can contribute to understanding the pathogenesis of a wide range of neurodevelopmental diseases. Despite its importance, however, the RTT pathogenesis remains unclear, and effective therapeutic treatment has not been developed. Offering an opportunity to move toward this goal, however, is the recent advance in the stem cell research field of the development of induced pluripotent stem cell (iPSC) technology. This technology can yield important insights into dis- ease pathophysiology and has the potential to provide disease models for screening new drugs. Here, we discuss applications of recent stem cell technology to the field of research on RTT and describe the stem cell biology of RTT pathogenesis.",
author = "Keita Tsujimura and Kinichi Nakashima",
year = "2018",
month = "6",
day = "27",
doi = "10.1007/978-3-319-90695-9_3",
language = "English",
isbn = "9783319906942",
pages = "27--41",
booktitle = "Stem Cell Genetics for Biomedical Research",
publisher = "Springer International Publishing",

}

TY - CHAP

T1 - Rett syndrome and stem cell research

AU - Tsujimura, Keita

AU - Nakashima, Kinichi

PY - 2018/6/27

Y1 - 2018/6/27

N2 - Rett syndrome (RTT) is a devastating neurodevelopmental disorder resulting from mutations in the X-linked gene encoding methyl-CpG-binding pro- tein 2 (MECP2). MECP2 mutations are also associated with other neurodevelop- mental diseases, including autism and schizophrenia. Therefore, elucidating the mechanism of RTT can contribute to understanding the pathogenesis of a wide range of neurodevelopmental diseases. Despite its importance, however, the RTT pathogenesis remains unclear, and effective therapeutic treatment has not been developed. Offering an opportunity to move toward this goal, however, is the recent advance in the stem cell research field of the development of induced pluripotent stem cell (iPSC) technology. This technology can yield important insights into dis- ease pathophysiology and has the potential to provide disease models for screening new drugs. Here, we discuss applications of recent stem cell technology to the field of research on RTT and describe the stem cell biology of RTT pathogenesis.

AB - Rett syndrome (RTT) is a devastating neurodevelopmental disorder resulting from mutations in the X-linked gene encoding methyl-CpG-binding pro- tein 2 (MECP2). MECP2 mutations are also associated with other neurodevelop- mental diseases, including autism and schizophrenia. Therefore, elucidating the mechanism of RTT can contribute to understanding the pathogenesis of a wide range of neurodevelopmental diseases. Despite its importance, however, the RTT pathogenesis remains unclear, and effective therapeutic treatment has not been developed. Offering an opportunity to move toward this goal, however, is the recent advance in the stem cell research field of the development of induced pluripotent stem cell (iPSC) technology. This technology can yield important insights into dis- ease pathophysiology and has the potential to provide disease models for screening new drugs. Here, we discuss applications of recent stem cell technology to the field of research on RTT and describe the stem cell biology of RTT pathogenesis.

UR - http://www.scopus.com/inward/record.url?scp=85053587521&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85053587521&partnerID=8YFLogxK

U2 - 10.1007/978-3-319-90695-9_3

DO - 10.1007/978-3-319-90695-9_3

M3 - Chapter

AN - SCOPUS:85053587521

SN - 9783319906942

SP - 27

EP - 41

BT - Stem Cell Genetics for Biomedical Research

PB - Springer International Publishing

ER -