Animal models of fragile X syndrome

R. Frank Kooy; Peng Jin; Han Bao; Sally Till; Peter Kind; Rob Willemsen

doi:10.1016/B978-0-12-804461-2.00007-X

Animal models of fragile X syndrome

R. Frank Kooy^*, Peng Jin, Han Bao, Sally Till, Peter Kind, Rob Willemsen

^*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

To study the molecular mechanisms of the fragile X syndrome (FXS), including CGG repeat instability and expansion, the physiological function of FMR1 protein (FMRP) and the pathogenesis of the FXS, animal model systems are crucial. The development of several well validated animal models, including vertebrate and nonvertebrate models, for FXS has significantly contributed to knowledge of the molecular mechanisms and pathways involved in FXS. In addition, these animal models were indispensable in the development of targeted therapies for FXS. This chapter will provide an overview of the different animal models, including mouse, rat, zebra fish and fly models that were generated after the discovery of the FMR1 gene.

Original language	English
Title of host publication	Fragile X Syndrome
Subtitle of host publication	From Genetics to Targeted Treatment
Editors	Rob Willemsen, R. Frank Kooy
Publisher	Elsevier
Chapter	7
Pages	123-147
Number of pages	25
ISBN (Electronic)	9780128045077
ISBN (Print)	9780128044612
DOIs	https://doi.org/10.1016/B978-0-12-804461-2.00007-X
Publication status	Published - 26 May 2017

Keywords / Materials (for Non-textual outputs)

Animal model
FMR1 gene function
Modelling human disease
Preclinical research
Transgenesis

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10.1016/B978-0-12-804461-2.00007-X

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title = "Animal models of fragile X syndrome",

abstract = "To study the molecular mechanisms of the fragile X syndrome (FXS), including CGG repeat instability and expansion, the physiological function of FMR1 protein (FMRP) and the pathogenesis of the FXS, animal model systems are crucial. The development of several well validated animal models, including vertebrate and nonvertebrate models, for FXS has significantly contributed to knowledge of the molecular mechanisms and pathways involved in FXS. In addition, these animal models were indispensable in the development of targeted therapies for FXS. This chapter will provide an overview of the different animal models, including mouse, rat, zebra fish and fly models that were generated after the discovery of the FMR1 gene.",

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AU - Kooy, R. Frank

AU - Jin, Peng

AU - Bao, Han

AU - Till, Sally

AU - Kind, Peter

AU - Willemsen, Rob

PY - 2017/5/26

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N2 - To study the molecular mechanisms of the fragile X syndrome (FXS), including CGG repeat instability and expansion, the physiological function of FMR1 protein (FMRP) and the pathogenesis of the FXS, animal model systems are crucial. The development of several well validated animal models, including vertebrate and nonvertebrate models, for FXS has significantly contributed to knowledge of the molecular mechanisms and pathways involved in FXS. In addition, these animal models were indispensable in the development of targeted therapies for FXS. This chapter will provide an overview of the different animal models, including mouse, rat, zebra fish and fly models that were generated after the discovery of the FMR1 gene.

AB - To study the molecular mechanisms of the fragile X syndrome (FXS), including CGG repeat instability and expansion, the physiological function of FMR1 protein (FMRP) and the pathogenesis of the FXS, animal model systems are crucial. The development of several well validated animal models, including vertebrate and nonvertebrate models, for FXS has significantly contributed to knowledge of the molecular mechanisms and pathways involved in FXS. In addition, these animal models were indispensable in the development of targeted therapies for FXS. This chapter will provide an overview of the different animal models, including mouse, rat, zebra fish and fly models that were generated after the discovery of the FMR1 gene.

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KW - FMR1 gene function

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KW - Preclinical research

KW - Transgenesis

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A2 - Kooy, R. Frank

PB - Elsevier

ER -

Animal models of fragile X syndrome

Abstract

Keywords / Materials (for Non-textual outputs)

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