Title |
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)
|
---|---|
Published in |
BMC Genomic Data, April 2002
|
DOI | 10.1186/1471-2156-3-5 |
Pubmed ID | |
Authors |
Asli N Silahtaroglu, Karen Brondum-Nielsen, Ole Gredal, Lene Werdelin, Marios Panas, Michael B Petersen, Niels Tommerup, Zeynep Tümer |
Abstract |
Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a defect in the gene encoding the cytosolic antioxidant enzyme Cu, Zn-superoxide dismutase (SOD1). The underlying molecular defect is known only in a very small portion of the remaining cases and therefore involvement of other genes is likely. As SOD1 receives copper, essential for its normal function, by the copper chaperone, CCS (Copper Chaperone for SOD), we considered CCS as a potential candidate gene for ALS. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | 3% |
Denmark | 1 | 3% |
Unknown | 27 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 7 | 24% |
Researcher | 4 | 14% |
Student > Ph. D. Student | 4 | 14% |
Student > Doctoral Student | 3 | 10% |
Professor | 3 | 10% |
Other | 6 | 21% |
Unknown | 2 | 7% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 10 | 34% |
Biochemistry, Genetics and Molecular Biology | 6 | 21% |
Medicine and Dentistry | 5 | 17% |
Neuroscience | 2 | 7% |
Nursing and Health Professions | 1 | 3% |
Other | 2 | 7% |
Unknown | 3 | 10% |