scholarly journals Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

2003 ◽  
Vol 12 (1) ◽  
pp. 41-50 ◽  
Author(s):  
R. T. Libby
Keyword(s):  
Transgenic Mice ◽  
Cag Repeat ◽  
Genomic Context ◽  
Repeat Instability

scholarly journals MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice

PLoS Genetics ◽  
2009 ◽  
Vol 5 (5) ◽  
pp. e1000482 ◽  
Author(s):  
Stéphanie Tomé ◽  
Ian Holt ◽  
Winfried Edelmann ◽  
Glenn E. Morris ◽  
Arnold Munnich ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Cag Repeat ◽  
Atpase Domain ◽  
Repeat Instability

Pathogenic Mechanisms

2014 ◽  
Author(s):  
Alis Hughes ◽  
Lesley Jones
Keyword(s):  
Cag Repeat ◽  
Therapeutic Interventions ◽  
Mutant Huntingtin ◽  
Repeat Instability ◽  
Disease Etiology ◽  
Pathogenic Mechanisms ◽  
Rna Toxicity ◽  
Cellular Processes ◽  
Protein Clearance ◽  
Individual Importance

Huntington’s disease (HD) pathogenesis is complex. In the two decades since the gene and its mutation were discovered, there has been extensive exploration of how the expanded CAG repeat in HTT leads to neurodegeneration in HD. This chapter focuses on the mechanisms that potentially contribute to the dysfunction and death of cells in HD. These include repeat instability and RNA toxicity and the production, processing, modification, and degradation of mutant huntingtin. The effects of mutant HTT on cellular processes such as transcription, transport, neurotransmission, and protein clearance are also described. The interdependence and individual importance of these mechanisms in disease etiology remains to be clarified; however, consideration of each could be important for the development of therapeutic interventions in HD.

scholarly journals Absence of Disease Phenotype and Intergenerational Stability of the Cag Repeat in Transgenic Mice Expressing the Human Huntington Disease Transcript

1996 ◽  
Vol 5 (2) ◽  
pp. 177-185 ◽  
Author(s):  
Y. P. Goldberg ◽  
M. A. Kalchman ◽  
M. Metzler ◽  
J. Nasir ◽  
J. Zeisler ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Huntington Disease ◽  
Cag Repeat ◽  
Disease Phenotype

scholarly journals Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington’s Disease Knock-In Mice

Genetics ◽  
2016 ◽  
Vol 205 (2) ◽  
pp. 503-516 ◽  
Author(s):  
João Luís Neto ◽  
Jong-Min Lee ◽  
Ali Afridi ◽  
Tammy Gillis ◽  
Jolene R. Guide ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Cag Repeat ◽  
Repeat Instability

scholarly journals Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice

Cell ◽  
1996 ◽  
Vol 87 (3) ◽  
pp. 493-506 ◽  
Author(s):  
Laura Mangiarini ◽  
Kirupa Sathasivam ◽  
Mary Seller ◽  
Barbara Cozens ◽  
Alex Harper ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Cag Repeat ◽  
Neurological Phenotype ◽  
Exon 1 ◽  
Hd Gene
Sign in / Sign up

Export Citation Format

Share Document