Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells-Reference-Cited by-同舟云学术

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Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

Published:1992-03 Issue:5 Volume:88 Page:491-499
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Yajima Shigehiro,Suzuki Yasuyuki,Shimozawa Nobuyuki,Yamaguchi Seiji,Orii Tadao,Fujiki Yukio,Osumi Takashi,Hashimoto Takashi,Moser Hugo W.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00219334.pdf

Reference29 articles.

1. Bowen P, Lee C, Zellweger H, Lindenberg R (1964) A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 114:402–414

2. Brul S, Westerveld A, Strijland A, Wanders RJA, Schram AW, Heymans HSA, Schutgens RBH, Bosch H van den, Tager JM (1988a) Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal function. J Clin Invest 81:1710–1715

3. Brul S, Wiemer EAC, Westerveld A, Strijland A, Wanders RJA, Schram AW, Heymans HSA, Schutgens RBH, Bosch H van den, Tager JM (1988b) Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders. Biochem Biophys Res Commun 152:1083–1089

4. Chen WW, Watkins PA, Osumi T, Hashimoto T, Moser HW (1987) Peroxisomal β-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. Proc Natl Acad Sci USA 84:1425–1428

5. Datta NS, Wilson GN, Hajra AK (1984) Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. N Engl J Med 311:1080–1083

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1. Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival;Brain and Development;2019-01

2. Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene;Brain and Development;2013-10

3. Genetics and molecular basis of human peroxisome biogenesis disorders;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2012-09

4. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs;Clinical Genetics;2010-12-09

5. Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations;American Journal of Medical Genetics Part A;2009-06

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