scholarly journals Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy

2018 ◽  
Vol 24 (4) ◽  
pp. 427-437 ◽  
Author(s):  
Nisha M Badders ◽  
Ane Korff ◽  
Helen C Miranda ◽  
Pradeep K Vuppala ◽  
Rebecca B Smith ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Muscular Atrophy ◽  
Selective Modulation ◽  
Spinal Bulbar Muscular Atrophy

Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy

2001 ◽  
Vol 29 (2) ◽  
pp. 222-227 ◽  
Author(s):  
I. J. McEwan
Keyword(s):  
Androgen Receptor ◽  
Spinocerebellar Ataxia ◽  
Muscular Atrophy ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Diverse Range ◽  
Disease States ◽  
Associated Proteins ◽  
Spinal Bulbar Muscular Atrophy ◽  
Clinical Conditions

The androgen receptor is a member of the nuclear receptor superfamily, and regulates gene expression in response to the steroid hormones testosterone and dihydrotestosterone. Mutations in the receptor have been correlated with a diverse range of clinical conditions, including androgen insensitivity, prostate cancer and spinal bulbar muscular atrophy, a neuromuscular degenerative condition. The latter is caused by expansion of a polyglutamine repeat within the N-terminal domain of the receptor. Thus the androgen receptor is one of a growing number of neurodegenerative disease-associated proteins, including huntingtin (Huntington's disease), ataxin-1 (spinocerebellar ataxia, type 1) and ataxin-3 (spinocerebellar ataxia, type 3), which show expansion of CAG triplet repeats. Although widely studied, the functions of huntingtin, ataxin-1 and ataxin-3 remain unknown. The androgen receptor, which has a well-recognized function in gene regulation, provides a unique opportunity to investigate the functional significance of poly(amino acid) repeats in normal and disease states.

Structural dynamics of the human androgen receptor: implications for prostate cancer and neurodegenerative disease

2006 ◽  
Vol 34 (6) ◽  
pp. 1098-1102 ◽  
Author(s):  
J. Duff ◽  
P. Davies ◽  
K. Watt ◽  
I.J. McEwan
Keyword(s):  
Prostate Cancer ◽  
Androgen Receptor ◽  
Structural Dynamics ◽  
Muscular Atrophy ◽  
Binding Domain ◽  
Genetic Changes ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Exon 1 ◽  
Spinal Bulbar Muscular Atrophy

The AR (androgen receptor) is a ligand-activated transcription factor that mediates the action of the steroids testosterone and dihydrotestosterone. Alterations in the AR gene result in a number of clinical disorders, including: androgen-insensitivity, which leads to disruption of male development; prostate cancer; and a neuromuscular degenerative condition termed spinal bulbar muscular atrophy or Kennedy's disease. The AR gene is X-linked and the protein is coded for by eight exons, giving rise to a C-terminal LBD (ligand-binding domain; exons 4–8), linked by a hinge region (exon 4) to a Zn-finger DBD (DNA-binding domain; exons 2 and 3) and a large structurally distinct NTD (N-terminal domain; exon 1). Identification and characterization of mutations found in prostate cancer and Kennedy's disease patients have revealed the importance of structural dynamics in the mechanisms of action of receptors. Recent results from our laboratory studying genetic changes in the LBD and the structurally flexible NTD will be discussed.

scholarly journals FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion

2013 ◽  
Vol 34 (5) ◽  
pp. 1516.e17-1516.e19 ◽  
Author(s):  
Pietro Fratta ◽  
Bilal Malik ◽  
Anna Gray ◽  
Albert R. La Spada ◽  
Michael G. Hanna ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Muscular Atrophy ◽  
Repeat Expansion ◽  
Polyglutamine Repeat ◽  
Spinal Bulbar Muscular Atrophy

scholarly journals Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy

2008 ◽  
Vol 53 (5) ◽  
pp. 729-740 ◽  
Author(s):  
Douglas Ashley Monks ◽  
Pengcheng Rao ◽  
Kaiguo Mo ◽  
Jamie Ann Johansen ◽  
Gareth Lewis ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Muscular Atrophy ◽  
Spinal Bulbar Muscular Atrophy

Transcriptional activation by the androgen receptor in X-linked spinal and bulbar muscular atrophy

1996 ◽  
Vol 142 (1-2) ◽  
pp. 12-16 ◽  
Author(s):  
Hideto Nakajima ◽  
Fumiharu Kimura ◽  
Toshimasa Nakagawa ◽  
Daisuke Furutama ◽  
Keiichi Shinoda ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Transcriptional Activation ◽  
Muscular Atrophy

scholarly journals Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

Neuron ◽  
2014 ◽  
Vol 82 (2) ◽  
pp. 295-307 ◽  
Author(s):  
Constanza J. Cortes ◽  
Shuo-Chien Ling ◽  
Ling T. Guo ◽  
Gene Hung ◽  
Taiji Tsunemi ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Muscular Atrophy ◽  
Disease Phenotypes
Sign in / Sign up

Export Citation Format

Share Document