Journal Article10.1111/J.1468-1331.2011.03646.X
CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis
A. Bruson,Fabio Sambataro,Giorgia Querin,C. D'Ascenzo,Arianna Palmieri,J. Agostini,Alessandra Gaiani,Corrado Angelini,Mariarita Galbiati,Angelo Poletti,Maria Pennuto,Elena Pegoraro,Maurizio Clementi,Gianni Sorarù +13 more
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TL;DR: The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA).
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Abstract: Background: Epidemiological and clinical studies show higher prevalence of amyotrophic lateral sclerosis (ALS) in males than in females and more severe lesions in androgen receptor (AR)-expressing tissues. The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA). Purpose and methods: We tested the hypothesis that the AR CAG repeat linked to SBMA is a risk factor for ALS. We analyzed AR CAG expansions in 336 patients with ALS and 100 controls. Results: We found a negative association of AR CAG expansions with ALS susceptibility, clinical presentation, and survival. Conclusions: Our findings do not support a role of the AR CAG repeat length in ALS.
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Citations
The Role of Sex and Sex Hormones in Neurodegenerative Diseases.
Elisabetta Vegeto,Alessandro Villa,Sara Della Torre,Valeria Crippa,Paola Rusmini,Riccardo Cristofani,Mariarita Galbiati,Adriana Maggi,Angelo Poletti +8 more
TL;DR: Current state-of-the-art understanding on the potential role of sex steroids and their receptors on the onset and progression of major neurodegenerative disorders, namely Alzheimer's disease, Parkinson's diseases, Amyotrophic Lateral Sclerosis and the peculiar motoneuron disease Spinal and Bulbar Muscular Atrophy are presented.
176
FUS interacts with nuclear matrix-associated protein SAFB1 as well as Matrin3 to regulate splicing and ligand-mediated transcription.
TL;DR: Findings indicate SAFB1 could be a FUS’s functional platform in chromatin compartment to regulate RNA splicing and ligand-dependent transcription and shed light on the etiological significance of nuclear matrix-associated proteins in ALS pathogenesis.
Mechanisms mediating spinal and bulbar muscular atrophy: investigations into polyglutamine-expanded androgen receptor function and dysfunction.
Lenore K. Beitel,Lenore K. Beitel,Carlos Alvarado,Carlos Alvarado,Shaza Mokhtar,Shaza Mokhtar,Miltiadis Paliouras,Miltiadis Paliouras,Mark Trifiro,Mark Trifiro +9 more
TL;DR: Investigation into polyQ AR function have shown that multiple complex mechanisms lead to the initiation and progression of SBMA, a late-onset neuromuscular disorder caused by expansion of the polymorphic polyglutamine tract in the androgen receptor.
Androgens affect muscle, motor neuron, and survival in a mouse model of SOD1-related amyotrophic lateral sclerosis
Tanya Aggarwal,María José Polanco,Chiara Scaramuzzino,Anna Rocchi,Carmelo Milioto,Carmelo Milioto,Laura Emionite,Emanuela Ognio,Fabio Sambataro,Mariarita Galbiati,Angelo Poletti,Angelo Poletti,Maria Pennuto,Maria Pennuto +13 more
TL;DR: It is shown that androgen ablation by surgical castration extends survival and disease duration of a transgenic mouse model of ALS expressing mutant human SOD1 (hSOD1-G93A) and sheds light on the role of androgens as modifiers of ALS pathogenesis via dysregulation of androgen receptor homeostasis.
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Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene.
TL;DR: The results confirmed the significant role of chromosome abnormalities, Y-chromosome microdeletions, and GGN repeats in Chinese male infertility.
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