Title |
Amyotrophic lateral sclerosis: an update on recent genetic insights
|
---|---|
Published in |
Journal of Neurology, October 2013
|
DOI | 10.1007/s00415-013-7112-y |
Pubmed ID | |
Authors |
Yohei Iguchi, Masahisa Katsuno, Kensuke Ikenaka, Shinsuke Ishigaki, Gen Sobue |
Abstract |
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting both upper and lower motor neurons. The prognosis for ALS is extremely poor, but there is a limited course of treatment with only one approved medication. A most striking recent discovery is that TDP-43 is identified as a key molecule that is associated with both sporadic and familial forms of ALS. TDP-43 is not only a pathological hallmark, but also a genetic cause for ALS. Subsequently, a number of ALS-causative genes have been found. Above all, the RNA-binding protein, such as FUS, TAF15, EWSR1 and hnRNPA1, have structural and functional similarities to TDP-43, and physiological functions of some molecules, including VCP, UBQLN2, OPTN, FIG4 and SQSTM1, are involved in a protein degradation system. These discoveries provide valuable insight into the pathogenesis of ALS, and open doors for developing an effective disease-modifying therapy. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Colombia | 1 | <1% |
France | 1 | <1% |
Australia | 1 | <1% |
Brazil | 1 | <1% |
Spain | 1 | <1% |
Japan | 1 | <1% |
United States | 1 | <1% |
Unknown | 112 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 28 | 24% |
Student > Bachelor | 22 | 18% |
Researcher | 16 | 13% |
Student > Master | 12 | 10% |
Student > Doctoral Student | 9 | 8% |
Other | 18 | 15% |
Unknown | 14 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 37 | 31% |
Medicine and Dentistry | 23 | 19% |
Biochemistry, Genetics and Molecular Biology | 19 | 16% |
Neuroscience | 18 | 15% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
Other | 6 | 5% |
Unknown | 14 | 12% |