Complementation Analysis of Peroxisomal Diseases: Kinetics of Assembly of Peroxisomes After Fusion of Complementary Cell Lines from Patients Deficient in ... View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1988

AUTHORS

S. Brul , E. A. C. Wiemer , A. Strijland , H. S. A. Heymans , R. B. H. Schutgens , H. Van Den Bosch , A. W. Schram , R. J. A. Wanders , A. Westerveld , J. M. Tager

ABSTRACT

In 1973, Sidney Goldfischer and his colleagues published their seminal paper [l] in which they reported that peroxisomes are deficient in liver and kidney of patients with the cerebro-hepato-renal (Zellweger) syndrome. In fact, in the two patients initially studied, morphologically distinguisable peroxisomes appeared to be totally lacking [l]. These observations, which were later confirmed in many laboratories, pointed to a hitherto unsuspected situation: a genetic disease in man in which a complete organelle is deficient. Borst [2] subsequently suggested that the pathogenesis of the Zellweger syndrome might be due simply to the absence of peroxisomes (see also Ref. 3), a postulate now amply validated by the realization of the essential role of peroxisomes in a number of metabolic pathways. Indeed, the deficiency of peroxisomes in the Zellweger syndrome is accompanied by a generalized impairment of peroxisomal functions, due to a deficiency of many peroxisomal enzymes [4–9]. The metabolic pathways in which peroxisomes play an essential role are listed in Table I. More... »

PAGES

381-387

Book

TITLE

Lipid Storage Disorders

ISBN

978-1-4612-8300-3
978-1-4613-1029-7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4613-1029-7_46

DOI

http://dx.doi.org/10.1007/978-1-4613-1029-7_46

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1021554562


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