Chapter title |
Canavan Disease: Studies on the Knockout Mouse
|
---|---|
Chapter number | 6 |
Book title |
N-Acetylaspartate
|
Published in |
Advances in experimental medicine and biology, June 2006
|
DOI | 10.1007/0-387-30172-0_6 |
Pubmed ID | |
Book ISBNs |
978-0-387-30171-6, 978-0-387-30172-3
|
Authors |
Matalon R, Michals-Matalon K, Surendran S, Tyring SK, Reuben Matalon, Kimberlee Michals-Matalon, Sankar Surendran, Stephen K. Tyring |
Abstract |
Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was engineered, also has ASPA deficiency and elevated NAA. Molecular studies of the mouse brain showed abnormal expression of multiple genes in addition to ASPA deficiency. Adenoassociated virus mediated gene transfer and stem cell therapy in the knockout mouse are the latest attempts to alter pathophysiology in the CD mouse. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 15 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 5 | 33% |
Student > Bachelor | 4 | 27% |
Other | 2 | 13% |
Student > Postgraduate | 1 | 7% |
Unknown | 3 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 7 | 47% |
Agricultural and Biological Sciences | 3 | 20% |
Biochemistry, Genetics and Molecular Biology | 2 | 13% |
Computer Science | 1 | 7% |
Neuroscience | 1 | 7% |
Other | 0 | 0% |
Unknown | 1 | 7% |