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 ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Loss Of Function ◽  
Kennedy’S Disease ◽  
Cag Repeat Expansion ◽  
Kennedy's Disease

Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene

2008 ◽  
Vol 9 (1) ◽  
pp. 40-42 ◽  
Author(s):  
Julien Praline ◽  
Anne‐Marie Guennoc ◽  
Marie‐Claire Malinge ◽  
Bertrand de Toffol ◽  
Philippe Corcia
Keyword(s):  
Androgen Receptor ◽  
Motor Neuron ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Cag Repeat Expansion

scholarly journals A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

2020 ◽  
Vol 43 (3) ◽  
Author(s):  
José Sánchez-Corona ◽  
Sergio Alberto Ramirez-Garcia ◽  
Gema Castañeda-Cisneros ◽  
Susan Andrea Gutiérrez-Rubio ◽  
Víctor Volpini ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Report ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Repeat Expansion ◽  
Mexican Child

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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

The genetics of Huntington’s disease

2020 ◽  
pp. 44-53
Author(s):  
Oliver Quarrell
Keyword(s):  
Amino Acids ◽  
Genetic Code ◽  
Building Blocks ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Dna Molecule ◽  
Cag Repeat Expansion ◽  
Males And Females ◽  
Chemical Messenger ◽  
Hd Gene

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

CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study

1998 ◽  
Vol 40 (3) ◽  
pp. 164-168 ◽  
Author(s):  
Alessandro Malandrini ◽  
Lucia Galli ◽  
Marcello Villanova ◽  
Silvia Palmeri ◽  
Emma Parrotta ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Genetic Study ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Repeat Expansion ◽  
Italian Family

scholarly journals MicroRNA signatures of endogenous Huntingtin CAG repeat expansion in mice

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