Literature DB >> 24742452

Muscle matters in Kennedy's disease.

Carlo Rinaldi1, Laura C Bott2, Kenneth H Fischbeck3.   

Abstract

Polyglutamine expansion in the androgen receptor causes Kennedy's disease. Two recent reports, Cortes et al. (2014) in this issue of Neuron and Lieberman et al. (2014) in Cell Reports, raise the possibility that targeting expression of the mutant protein in skeletal muscle, instead of the nervous system, may mitigate manifestations of this disorder.
Copyright © 2014 Elsevier Inc. All rights reserved.

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Year:  2014        PMID： 24742452      PMCID： PMC4086161          DOI： 10.1016/j.neuron.2014.04.005

Source DB:  PubMed          Journal:  Neuron        ISSN： 0896-6273            Impact factor:   17.173


  15 in total

1.  X-linked recessive bulbospinal neuronopathy. A clinicopathological study.

Authors:  G Sobue; Y Hashizume; E Mukai; M Hirayama; T Mitsuma; A Takahashi
Journal:  Brain       Date:  1989-02       Impact factor: 13.501

2.  Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy.

Authors:  Patrick S Thomas; Gregory S Fraley; Vincent Damian; Vincent Damien; Lillie B Woodke; Francisco Zapata; Bryce L Sopher; Stephen R Plymate; Albert R La Spada
Journal:  Hum Mol Genet       Date:  2006-06-13       Impact factor: 6.150

3.  Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model.

Authors:  Zhigang Yu; Nahid Dadgar; Megan Albertelli; Kirsten Gruis; Cynthia Jordan; Diane M Robins; Andrew P Lieberman
Journal:  J Clin Invest       Date:  2006-09-14       Impact factor: 14.808

4.  Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.

Authors:  Lindsay E Fernández-Rhodes; Angela D Kokkinis; Michelle J White; Charlotte A Watts; Sungyoung Auh; Neal O Jeffries; Joseph A Shrader; Tanya J Lehky; Li Li; Jennifer E Ryder; Ellen W Levy; Beth I Solomon; Michael O Harris-Love; Alison La Pean; Alice B Schindler; Cheunju Chen; Nicholas A Di Prospero; Kenneth H Fischbeck
Journal:  Lancet Neurol       Date:  2011-01-06       Impact factor: 44.182

5.  Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.

Authors:  Masahisa Katsuno; Haruhiko Banno; Keisuke Suzuki; Yu Takeuchi; Motoshi Kawashima; Ichiro Yabe; Hidenao Sasaki; Masashi Aoki; Mitsuya Morita; Imaharu Nakano; Kazuaki Kanai; Shoichi Ito; Kinya Ishikawa; Hidehiro Mizusawa; Tomotaka Yamamoto; Shoji Tsuji; Kazuko Hasegawa; Takayoshi Shimohata; Masatoyo Nishizawa; Hiroaki Miyajima; Fumio Kanda; Yasuhiro Watanabe; Kenji Nakashima; Akira Tsujino; Taro Yamashita; Makoto Uchino; Yasushi Fujimoto; Fumiaki Tanaka; Gen Sobue
Journal:  Lancet Neurol       Date:  2010-08-04       Impact factor: 44.182

6.  Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease.

Authors:  Douglas Ashley Monks; Jamie A Johansen; Kaiguo Mo; Pengcheng Rao; Bryn Eagleson; Zhigang Yu; Andrew P Lieberman; S Marc Breedlove; Cynthia L Jordan
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-02       Impact factor: 11.205

7.  Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy.

Authors:  Andrew P Lieberman; Zhigang Yu; Sue Murray; Raechel Peralta; Audrey Low; Shuling Guo; Xing Xian Yu; Constanza J Cortes; C Frank Bennett; Brett P Monia; Albert R La Spada; Gene Hung
Journal:  Cell Rep       Date:  2014-04-16       Impact factor: 9.423

8.  Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.

Authors:  Yimin Hua; Kentaro Sahashi; Frank Rigo; Gene Hung; Guy Horev; C Frank Bennett; Adrian R Krainer
Journal:  Nature       Date:  2011-10-05       Impact factor: 49.962

9.  Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.

Authors:  Isabella Palazzolo; Conor Stack; Lingling Kong; Antonio Musaro; Hiroaki Adachi; Masahisa Katsuno; Gen Sobue; J Paul Taylor; Charlotte J Sumner; Kenneth H Fischbeck; Maria Pennuto
Journal:  Neuron       Date:  2009-08-13       Impact factor: 17.173

10.  Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

Authors:  Gianni Sorarù; Carla D'Ascenzo; Alberto Polo; Arianna Palmieri; Linda Baggio; Lodovica Vergani; Cinzia Gellera; Giuseppe Moretto; Elena Pegoraro; Corrado Angelini
Journal:  J Neurol Sci       Date:  2007-09-12       Impact factor: 3.181
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  11 in total

Review 1.  Androgen Receptor Structure, Function and Biology: From Bench to Bedside.

Authors:  Rachel A Davey; Mathis Grossmann
Journal:  Clin Biochem Rev       Date:  2016-02

2.  The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.

Authors:  Angela Rosenbohm; Susanne Hirsch; Alexander E Volk; Torsten Grehl; Julian Grosskreutz; Frank Hanisch; Andreas Herrmann; Katja Kollewe; Wolfram Kress; Thomas Meyer; Susanne Petri; Johannes Prudlo; Carsten Wessig; Hans-Peter Müller; Jens Dreyhaupt; Jochen Weishaupt; Christian Kubisch; Jan Kassubek; Patrick Weydt; Albert C Ludolph
Journal:  J Neurol       Date:  2018-02-20       Impact factor: 4.849

3.  Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.

Authors:  Wooi F Lim; Mitra Forouhan; Thomas C Roberts; Jesse Dabney; Ruth Ellerington; Alfina A Speciale; Raquel Manzano; Maria Lieto; Gavinda Sangha; Subhashis Banerjee; Mariana Conceição; Lara Cravo; Annabelle Biscans; Loïc Roux; Naemeh Pourshafie; Christopher Grunseich; Stephanie Duguez; Anastasia Khvorova; Maria Pennuto; Constanza J Cortes; Albert R La Spada; Kenneth H Fischbeck; Matthew J A Wood; Carlo Rinaldi
Journal:  Sci Adv       Date:  2021-08-20       Impact factor: 14.136

Review 4.  The Role of Sex and Sex Hormones in Neurodegenerative Diseases.

Authors:  Elisabetta Vegeto; Alessandro Villa; Sara Della Torre; Valeria Crippa; Paola Rusmini; Riccardo Cristofani; Mariarita Galbiati; Adriana Maggi; Angelo Poletti
Journal:  Endocr Rev       Date:  2020-04-01       Impact factor: 19.871

Review 5.  The Role of the Protein Quality Control System in SBMA.

Authors:  Paola Rusmini; Valeria Crippa; Riccardo Cristofani; Carlo Rinaldi; Maria Elena Cicardi; Mariarita Galbiati; Serena Carra; Bilal Malik; Linda Greensmith; Angelo Poletti
Journal:  J Mol Neurosci       Date:  2015-11-14       Impact factor: 3.444

Review 6.  Targeted Molecular Therapies for SBMA.

Authors:  Carlo Rinaldi; Bilal Malik; Linda Greensmith
Journal:  J Mol Neurosci       Date:  2015-11-17       Impact factor: 3.444

Review 7.  Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease.

Authors:  Marianthi Breza; Georgios Koutsis
Journal:  J Neurol       Date:  2018-07-13       Impact factor: 4.849

Review 8.  Spinal and Bulbar Muscular Atrophy Overview.

Authors:  Kenneth H Fischbeck
Journal:  J Mol Neurosci       Date:  2015-11-07       Impact factor: 3.444

9.  NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease.

Authors:  Elizabeth M C Fisher; Carole H Sudre; Alan Mejia Maza; Seth Jarvis; Weaverly Colleen Lee; Thomas J Cunningham; Giampietro Schiavo; Maria Secrier; Pietro Fratta; James N Sleigh
Journal:  Sci Rep       Date:  2021-06-10       Impact factor: 4.379

Review 10.  Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review.

Authors:  Giorgia Querin; Peter Bede; Veronique Marchand-Pauvert; Pierre-Francois Pradat
Journal:  Front Neurol       Date:  2018-10-10       Impact factor: 4.003
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