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Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids.

Abstract：

:Complementation studies, using fused cell lines from patients with peroxisomal disorders, have shown correction of defective plasmalogen synthesis and phytanic acid oxidation as well as an increase in the number of peroxisomes. At least six complementation groups have been reported. We demonstrate here that complementing cell lines also acquire the ability to oxidize very long chain fatty acids (VLCFA), and that complementation groups defined with this technique are identical to those reported previously when plasmalogen synthesis was used as the criterion for complementation. This VLCFA complementation technique is of particular value in the study of patients in whom defective VLCFA is the only or major enzymatic defect, and we show complementation between cell lines from two patients each with an isolated defect in one of the peroxisomal fatty acid beta-oxidation enzymes.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

McGuinness MC,Moser AB,Moser HW,Watkins PA

doi

10.1016/s0006-291x(05)80218-9

subject

Has Abstract

pub_date

1990-10-15 00:00:00

pages

364-9

issue

1

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(05)80218-9

journal_volume

172

pub_type

杂志文章

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