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Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV.

Abstract：

:Increased concentrations of total sulfated mucopolysaccharides (MPS), threefold, and hyaluronic acid (HA), 10-fold, were found in ML IV fibroblast extracts when compared to normal controls. Such accumulations altered the distribution of MPS:HA comprised 70% of total MPS in ML IV but only 30% in control cells. Intracellular sulfated MPS was observed accumulating almost linearly in ML IV fibroblasts. "Pulse-chase" experiments indicate that both HA and the sulfated MPS remain in the ML IV cells for long periods of time; in control cells, they are rapidly removed as low molecular weight, dialyzable fragments. These data suggest that the MPS accumulation in ML IV fibroblasts, is the consequence of a catabolic block, probably involving the lysosome.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Bach G,Ziegler M,Kohn G,Cohen MM

subject

Has Abstract

pub_date

1977-11-01 00:00:00

pages

610-8

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

29

pub_type

杂志文章

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