Peroxisomal Disorders and Regulation of Genes / edited by Frank Roels, Myriam Baes, Sylvia Bie.
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...
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Full Text (via Springer) |
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| Other Authors: | , |
| Format: | eBook |
| Language: | English |
| Published: |
Boston, MA :
Springer US,
2003.
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| Series: | Advances in experimental medicine and biology ;
544. |
| Subjects: |
MARC
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| 100 | 1 | |a Roels, Frank. | |
| 245 | 1 | 0 | |a Peroxisomal Disorders and Regulation of Genes / |c edited by Frank Roels, Myriam Baes, Sylvia Bie. |
| 260 | |a Boston, MA : |b Springer US, |c 2003. | ||
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| 490 | 1 | |a Advances in Experimental Medicine and Biology, 0065-2598 ; |v 544. | |
| 500 | |a "Proceedings of the International Symposium on Peroxisomal Disorders and Regulation of Genes, beld September 25-28, 2002, al Ghent University, Belgium"--Page iv. | ||
| 505 | 0 | |a From the Contents: Foreword -- Variable Expression Of Peroxisomes And Their Disorders -- Molecular Mechanisms Of Gene Regulation -- Regulation Of Peroxisome Expression -- Author Index -- Subject Index. | |
| 520 | |a 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. | ||
| 650 | 0 | |a Peroxisomes. | |
| 650 | 0 | |a Gene expression. | |
| 650 | 7 | |a Gene expression. |2 fast |0 (OCoLC)fst00939613. | |
| 650 | 7 | |a Peroxisomes. |2 fast |0 (OCoLC)fst01058335. | |
| 700 | 1 | |a Baes, Myriam. | |
| 700 | 1 | |a Bie, Sylvia. | |
| 776 | 0 | 8 | |i Printed edition: |z 9781461347828. |
| 830 | 0 | |a Advances in experimental medicine and biology ; |v 544. | |
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| 880 | 0 | |6 505-00/(S |a PEROXISOMAL DISORDERS AND REGULATION OF GENES; Editor's page; Copyright; Foreword; Contents; Why Study Regulation of Genes in Inherited Disorders?; Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders; Mulibrey Nanism -- A Novel Peroxisomal Disorder; Peroxisomes during Development and in Distinct Cell Types; Tissue-specific Expression of Two Peroxisomal 3-ketoacyl-CoA Thiolase Genes in Wild and PPARα-null Mice and Induction by Fenofibrate; Clinical Features & Retinal Function In Patients With Adult Refsum Syndrome. | |
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