Umfang:
Online-Ressource (XIV, 429 p)
,
digital
Ausgabe:
Springer eBook Collection. Biomedical and Life Sciences
ISBN:
9781441990723
Serie:
Advances in Experimental Medicine and Biology 544
Inhalt:
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
Anmerkung:
From the Contents:Foreword -- Variable Expression Of Peroxisomes And Their Disorders -- Molecular Mechanisms Of Gene Regulation -- Regulation Of Peroxisome Expression -- Author Index -- Subject Index.
Weitere Ausg.:
ISBN 9781461347828
Weitere Ausg.:
Erscheint auch als Druck-Ausgabe ISBN 9780306481741
Weitere Ausg.:
Erscheint auch als Druck-Ausgabe ISBN 9781441990730
Weitere Ausg.:
Erscheint auch als Druck-Ausgabe ISBN 9781461347828
Sprache:
Englisch
DOI:
10.1007/978-1-4419-9072-3
URL:
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