scholarly journals The Transcription-Coupled Repair Protein ERCC6/CSB Also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation

2015 ◽  
Vol 36 (4) ◽  
pp. 482-487 ◽  
Author(s):  
Xiao-Nan Zhao ◽  
Karen Usdin
Keyword(s):  
Mouse Model ◽  
Fragile X ◽  
Repeat Expansion ◽  
Fragile X Premutation ◽  
Repair Protein ◽  
Transcription Coupled Repair

scholarly journals Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Ali Entezam ◽  
Adihe Rachel Lokanga ◽  
Wei Le ◽  
Gloria Hoffman ◽  
Karen Usdin
Keyword(s):  
Mouse Model ◽  
Fragile X ◽  
Repeat Expansion ◽  
Potassium Bromate ◽  
Oxidizing Agent ◽  
Fragile X Premutation

scholarly journals MutLγ promotes repeat expansion in a Fragile X mouse model while EXO1 is protective

PLoS Genetics ◽  
2018 ◽  
Vol 14 (10) ◽  
pp. e1007719 ◽  
Author(s):  
Xiaonan Zhao ◽  
Yongwei Zhang ◽  
Kenneth Wilkins ◽  
Winfried Edelmann ◽  
Karen Usdin
Keyword(s):  
Mouse Model ◽  
Fragile X ◽  
Repeat Expansion

scholarly journals Reduced activity-dependent protein levels in a mouse model of the fragile X premutation

2014 ◽  
Vol 109 ◽  
pp. 160-168 ◽  
Author(s):  
Ramona E. von Leden ◽  
Lindsey C. Curley ◽  
Gian D. Greenberg ◽  
Michael R. Hunsaker ◽  
Rob Willemsen ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fragile X ◽  
Protein Levels ◽  
Fragile X Premutation ◽  
Dependent Protein ◽  
Activity Dependent ◽  
Reduced Activity

scholarly journals Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation

Epilepsia ◽  
2012 ◽  
Vol 53 ◽  
pp. 150-160 ◽  
Author(s):  
Robert F. Berman ◽  
Karl D. Murray ◽  
Gloria Arque ◽  
Michael R. Hunsaker ◽  
H. Jürgen Wenzel
Keyword(s):  
Visual Cortex ◽  
Mouse Model ◽  
Primary Visual Cortex ◽  
Fragile X ◽  
Spine Morphology ◽  
Fragile X Premutation

scholarly journals Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field

F1000Research ◽  
2013 ◽  
Vol 2 ◽  
pp. 287 ◽  
Author(s):  
Michael R. Hunsaker
Keyword(s):  
Mouse Model ◽  
Mouse Models ◽  
Trinucleotide Repeat ◽  
Fragile X ◽  
Treatment Strategies ◽  
Preliminary Evidence ◽  
Future Research ◽  
Behavioral Experiments ◽  
Knock Out ◽  
Fragile X Premutation

It has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation being studied. Over the past few years, studies evaluating the effects of the polymorphic CGG trinucleotide repeat on theFMR1gene underlying Fragile X-Associated Disorders have reported preliminary evidence for a behavioral endophenotype in human Fragile X Premutation carrier populations as well as the CGG knock-in (KI) mouse model. More recently, the behavioral experiments used to test the CGG KI mouse model have been extended to theFmr1knock-out (KO) mouse model. When combined, these data provide compelling evidence for a clear neurocognitive endophenotype in the mouse models of Fragile X-Associated Disorders such that behavioral deficits scale predictably with genetic dosage. Similarly, it appears that the CGG KI mouse effectively models the histopathology in Fragile X-Associated Disorders across CGG repeats well into the full mutation range, resulting in a reliable histopathological endophenotype. These endophenotypes may influence future research directions into treatment strategies for not only Fragile X Syndrome, but also the Fragile X Premutation and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

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