CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation

1996 ◽  
Vol 117 (2) ◽  
pp. 149-156 ◽  
Author(s):  
Felizia Neuschmid-Kaspar ◽  
Andreas Gast ◽  
Heike Peterziel ◽  
Jean Schneikert ◽  
Armin Muigg ◽  
...  
2008 ◽  
Vol 9 (1) ◽  
pp. 40-42 ◽  
Author(s):  
Julien Praline ◽  
Anne‐Marie Guennoc ◽  
Marie‐Claire Malinge ◽  
Bertrand de Toffol ◽  
Philippe Corcia

2020 ◽  
Vol 43 (3) ◽  
Author(s):  
José Sánchez-Corona ◽  
Sergio Alberto Ramirez-Garcia ◽  
Gema Castañeda-Cisneros ◽  
Susan Andrea Gutiérrez-Rubio ◽  
Víctor Volpini ◽  
...  

1997 ◽  
Vol 17 (1) ◽  
pp. 65-70 ◽  
Author(s):  
Gilles David ◽  
Nacer Abbas ◽  
Giovanni Stevanin ◽  
Alexandra Dürr ◽  
Gaël Yvert ◽  
...  

2020 ◽  
pp. 44-53
Author(s):  
Oliver Quarrell

This chapter describes the nature of the genetic mistake. The genetic code, or DNA molecule, is wound up onto structures called chromosomes. The gene for HD is located on chromosome 4. As we have two copies of our genes the chromosomes are in pairs. Only one copy of the HD has to be abnormal to cause the condition. This results in a pattern of inheritance called autosomal dominant and both males and females can be affected. Genes code for proteins; the protein encoded by the HD gene is called huntingtin. Proteins are made of building blocks called amino acids. The gene for HD has an expansion of the genetic code for glutamine. Therefore, abnormal huntingtin has an expansion of the number of glutamines. The genetic code for glutamine is CAG so the mistake in the gene is sometimes called a CAG repeat expansion disorder or in referring to the protein it is called a polyglutamine repeat expansion. The gene is in one part of the cell and the protein-making machinery is in another part of the cell so a chemical messenger is required which is called RNA. Explaining this is important for understanding some current clinical trials


1998 ◽  
Vol 40 (3) ◽  
pp. 164-168 ◽  
Author(s):  
Alessandro Malandrini ◽  
Lucia Galli ◽  
Marcello Villanova ◽  
Silvia Palmeri ◽  
Emma Parrotta ◽  
...  

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0190550 ◽  
Author(s):  
Peter Langfelder ◽  
Fuying Gao ◽  
Nan Wang ◽  
David Howland ◽  
Seung Kwak ◽  
...  

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