TY - CHAP
T1 - Mouse models of the fragile X premutation and the fragile X associated tremor/ataxia syndrome
AU - Hunsaker, Michael R.
AU - Arque, Gloria
AU - Berman, Robert F
AU - Willemsen, Rob
AU - Hukema, Renate K.
PY - 2012
Y1 - 2012
N2 - The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on a range of factors, including anatomical, physiological, and pathological similarities; presence of orthologs of genes of interest; and conservation of basic cell biological and metabolic processes. In this chapter, we will discuss two mouse models of the fragile X premutation which have been generated to study the pathogenesis of FXTAS and the effects of potential therapeutic interventions. Behavioral, molecular, neuropathological, and endocrine features of the mouse models and their relation to human FXTAS are discussed.
AB - The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on a range of factors, including anatomical, physiological, and pathological similarities; presence of orthologs of genes of interest; and conservation of basic cell biological and metabolic processes. In this chapter, we will discuss two mouse models of the fragile X premutation which have been generated to study the pathogenesis of FXTAS and the effects of potential therapeutic interventions. Behavioral, molecular, neuropathological, and endocrine features of the mouse models and their relation to human FXTAS are discussed.
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U2 - 10.1007/978-3-642-21649-7_14
DO - 10.1007/978-3-642-21649-7_14
M3 - Chapter
C2 - 22009357
AN - SCOPUS:80455174205
SN - 9783642216480
VL - 54
T3 - Results and Problems in Cell Differentiation
SP - 255
EP - 269
BT - Results and Problems in Cell Differentiation
ER -