| 書目名稱 | Peroxisomal Disorders and Regulation of Genes | | 編輯 | Frank Roels,Myriam Baes,Sylvia Bie | | 視頻video | http://file.papertrans.cn/745/744242/744242.mp4 | | 叢書名稱 | Advances in Experimental Medicine and Biology | | 圖書封面 |  | | 描述 | .In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.. | | 出版日期 | Conference proceedings 2003 | | 關鍵詞 | DNA; Lipid; Nervous System; Oxidation; RNA; biosynthesis; enzymes; gene expression; genes; metabolism; molecul | | 版次 | 1 | | doi | https://doi.org/10.1007/978-1-4419-9072-3 | | isbn_softcover | 978-1-4613-4782-8 | | isbn_ebook | 978-1-4419-9072-3Series ISSN 0065-2598 Series E-ISSN 2214-8019 | | issn_series | 0065-2598 | | copyright | The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Busines |
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