Download e-book for iPad: Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 146136311X

ISBN-13: 9781461363118

ISBN-10: 1461530105

ISBN-13: 9781461530107

The present quantity comprises chapters on peroxisomal problems, genetic elements of melanoma, Gaucher sickness, and different topics.

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1987) and plasma (Poulos et al. , 1989) of patients with Zellweger syndrome. , 1991) and they may be of considerable physiological significance. In the retina, where the structure and function are severely disturbed in Zellweger syndrome, the fatty acid composition of phosphatidylcholine normally influences its binding to rhodopsin (Aveldano, 1988). Martinez has reported a striking reduction of the levels of docosohexacosanoic acid (22:6 (3) and 22:5 w6 in postmortem tissues of a Zellweger disease patient (Martinez, 1989).

Ester lipids are referred to as plasmalogens when the longchain alcohol is unsaturated in the 1-2 position. Plasmalogens constitute 520% of the phospholipids in most mammalian cell membranes (Snyder, 1972). They are especially abundant in nervous tissue; indeed, one-third of myelin phospholipids are plasmalogens (Norton and Autilio, 1966). , 1988). Plasmalogens are synthesized by a complex series of reactions (Hajra and Bishop, 1982) (Fig. 3). Plasmalogen synthesis begins with dihydroxyacetone phosphate (DHAP), which is acylated by DHAP acyltransferase.

Current scheme of peroxisome biogenesis. (From Lazarow and Fujiki, 1985. Used by pennission. ) Chapter 1: Peroxisomal Diseases 19 Fujilci, 1990). For many, but not all, matrix enzymes the topogenic signal has been shown to reside in a serine-lysine-leucine (SKL) amino acid sequence attached to the carboxy terminal. The first lead to a topogenic sequence was provided in studies with firefly luciferase conducted by Keller et al. (1987). These investigators had shown previously that in the firefly this enzyme was localized in a peroxisomelike organelle.

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Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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