GM1-gangliosidosis: Accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types

1978 ◽  
Vol 43 (2) ◽  
pp. 127-131 ◽  
Author(s):  
Yoshiyuki Suzuki ◽  
Norimasa Nakamura ◽  
Kazuko Fukuoka
Keyword(s):  
Skin Fibroblasts ◽  
Ganglioside Gm1 ◽  
Gm1 Gangliosidosis ◽  
Cultured Skin

Studies on cultured skin fibroblasts from calves with GM1 gangliosidosis

1977 ◽  
Vol 87 (2) ◽  
pp. 205-211 ◽  
Author(s):  
B.J. Sheahan ◽  
Elizabeth Roche ◽  
W.J.C. Donnelly
Keyword(s):  
Skin Fibroblasts ◽  
Gm1 Gangliosidosis ◽  
Cultured Skin

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

scholarly journals Glycosaminoglycan synthesis by cultured skin fibroblasts from a patient with Lowe's syndrome.

1981 ◽  
Vol 256 (20) ◽  
pp. 10313-10318
Author(s):  
S. Fukui ◽  
H. Yoshida ◽  
T. Tanaka ◽  
T. Sakano ◽  
T. Usui ◽  
...  
Keyword(s):  
Skin Fibroblasts ◽  
Glycosaminoglycan Synthesis ◽  
Cultured Skin

scholarly journals Elevated Cystine Levels in Cultured Skin Fibroblasts From Patients With I-Cell Disease

1979 ◽  
Vol 13 (12) ◽  
pp. 1350-1355 ◽  
Author(s):  
Frank Tietze ◽  
Jean DeBrohun Butler
Keyword(s):  
Skin Fibroblasts ◽  
Cell Disease ◽  
Cultured Skin

Heme content of normal and porphyric cultured skin fibroblasts

1977 ◽  
Vol 15 (11-12) ◽  
pp. 1061-1070 ◽  
Author(s):  
David A. Brenner ◽  
Joseph R. Bloomer
Keyword(s):  
Skin Fibroblasts ◽  
Cultured Skin

Catalase in cultured skin fibroblasts from patients with the cerebro-hepato-renal (Zellweger) syndrome: normal maturation in peroxisome-deficient cells

1987 ◽  
Vol 923 (3) ◽  
pp. 478-482 ◽  
Author(s):  
Ronald J.A. Wanders ◽  
Anneke Strijland ◽  
Carlo W.T. van Roermund ◽  
Henk van den Bosch ◽  
Ruud B.H. Schutgens ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Skin Fibroblasts ◽  
Cultured Skin
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