Fucosidosis

Matsuda, Ichiro; Arashima, Shinichiro; Anakura, Michiya; EGE, AYAKO; Hayata, Isamu

doi:10.1620/tjem.109.41

Cited by 29 publications

(8 citation statements)

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“…However, research is in progress to avoid the cleavage of C-terminal arginine. Studies on the physiology of NGF and with rhNGF in animal models indicated the bene¢cial e¡ects of exogenous NGF for the treatment of age dependent neuronal dysfunction [32^35] or peripheral neuropathic diseases [36,37] in humans.…”

Section: Discussionmentioning

confidence: 99%

Human nerve growth factor beta (hNGF‐β): mammary gland specific expression and production in transgenic rabbits

Coulibaly¹,

Besenfelder²,

Fleischmann³

et al. 1999

FEBS Letters

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Transgenic rabbits carrying gene constructs encoding human nerve growth factor beta (hNGF-L L) cDNA were generated. Expression of hNGF-L L mRNA was restricted to the mammary gland of lactating rabbits. Western Blot analysis revealed a polypeptide of 13.2 kDa in the milk of transgenic animals. hNGF-L L was purified from the milk by a two-step chromatographic procedure. Electrospray mass spectroscopy analysis of purified hNGF-L L depicted a molecular weight of 13 261 Da per subunit. The biological activity of the hNGF-L L was tested using PC12W2 cells and cultures of dorsal root ganglion neurons from chicken embryos. Crude defatted milk from transgenic animals and purified hNGF-L L demonstrated full biological activity when compared to commercial recombinant hNGF-L L.z 1999 Federation of European Biochemical Societies.

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Section: Discussionmentioning

confidence: 99%

Human nerve growth factor beta (hNGF‐β): mammary gland specific expression and production in transgenic rabbits

Coulibaly¹,

Besenfelder²,

Fleischmann³

et al. 1999

FEBS Letters

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“…About one hundred cases of fucosidosis and genomic analyses have been reported worldwide (8)(9)(10)(11). The present patient was diagnosed with type III fucosidosis based on her characteristic skin rash.…”

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confidence: 80%

Diagnosis of Fucosidosis Through A Skin Rash

Tsukadaira¹,

Hirose²,

Aoki³

et al. 2005

Intern. Med.

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Angiokeratoma corporis diffusum (AKCD) is a dermatological hallmark of several inherited lysosomal storage disorders, including Anderson-Fabry disease, -galactosidosis, fucosidosis, aspartylglucosaminuria, galactosialidosis, -mannosidosis, and Kanzaki disease (1-3).A 50-year-old Japanese woman, the product of a consanguineous marriage, was admitted to our hospital for repeated respiratory tract infections and chronic heart failure due to hypertrophic obstructive cardiomyopathy. She had short stature, gargoyle-like appearance, mental retardation, anhidrosis, and AKCD from the lower back to bilateral femora (Fig. 1). With regard to her family history, her younger sister died suddenly in her third decade and her 54-year-old elder sister, who is still alive, also shows the same physical appearance, mental impairment, and AKCD. Lysosomal glycoaminoacid storage disease with AKCD was then considered, and enzyme examination of their leukocytes revealed -L-fucosidase deficiency. Fucosidosis is a rare, autosomal recessive disorder that results from the deficient activity of -L-fucosidase and the accumulation of fucose-containing glycosphingolipids, glycoproteins, and oligosaccharides in the lysosomes of the liver, brain, and other organs (4). There is wide variability in the clinical phenotype, with the most severely affected patients showing rapid progressive neurological deterioration, leading to decerebration and death in childhood (type I) (5), severe spondylo-

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“…Eight cases have been reported in children: two by Durand et al (1966), Durand, Philippart, Borrone, Della Cella, and Bugiani (1967), Durand, Borrone, and Della Cella (1969a), Durand, Phillipart, Borrone, and Della Cella (1969b), one by Loeb et al (1969b and c), one by Freitag et al (1971b), Voelz, Tolksdorf, Freitag, and Spranger (1971), two siblings, patients of Dr Donnell of Los Angeles, reported by Zielke, Veath, and O'Brien (1972), one in Japan by Matsuda, Arashima, Anakura, Ege, and Hayata (1973), and one by Borrone, Gatti, Trias, and Durand (1974).…”

Section: Clinical Featuresmentioning

confidence: 99%

Mucopolysaccharidoses and mucolipidoses

Hoof¹

1974

Journal of Clinical Pathology

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Fucosidosis

Cited by 29 publications

References 1 publication

Human nerve growth factor beta (hNGF‐β): mammary gland specific expression and production in transgenic rabbits

Human nerve growth factor beta (hNGF‐β): mammary gland specific expression and production in transgenic rabbits

Diagnosis of Fucosidosis Through A Skin Rash

Mucopolysaccharidoses and mucolipidoses

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