By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)
The present quantity contains chapters on peroxisomal problems, genetic elements of melanoma, Gaucher disorder, and different topics.
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Extra resources for Advances in Human Genetics 21
1990). Substitution of any amino acid for the terminal leucine abolished the topogenic signal. The serine residue could be replaced by cysteine or alanine, and the lysine residue by histidine or arginine, both without loss of import activity. , 1990). This finding is of great interest for the peroxisomal disorders, where the import defect affects proteins in the matrix, but not those in the membranes (see p. 44). Not all matrix proteins contain the carboxy-terminal SKL sequence. , 1988). The topogenic signal for 3-ketoacylCoA thiolase probably resides in the positively charged 26-leader sequence at the amino-terminal end (Osumi and Fujilci, 1990).
Used by permission. ::l I' c 3 !!. 2~' '8 DI 1. ~ o 38 Hugo W. Moser sensitive isotope dilution method abnormally high levels can be demonstrated in all patients with disorders of peroxisome biogenesis irrespective of age. , 1991). Accumulation of Intermediates of Bile Acid Metabolism. , 1987; Poulos and Whiting, 1985). Total bile acid levels are normal except when there is liver damage. In Zellweger syndrome, THCA, DHCA, varanic acid, and certain other metabolites may account for 30-50% of total plasma bile acids, while normally these metabolic intermediates are either absent or present in very low concentration.
11 . Schematic representation of the basic defect in the disorders of peroxisome biogenesis. The double line indicates that the underlying defect is thought to involve the import of matrix enzymes. The demonstration of normal or near-normal levels of membrane proteins and the existence of peroxisome "ghosts" suggest that the import of integral membrane proteins is not disturbed. This scheme is an oversimplification, since there are at least six types of import defects. disorders of peroxisome biogenesis.