Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophy
نویسندگان
چکیده
منابع مشابه
[Globoid cell leukodystrophy].
A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy. Globoid cell leukodystrophy is caused by the deficien...
متن کاملGloboid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.
Activity of lactosyl ceramide beta-galactosidase (beta-D-galactoside galactohydrolase, EC 3.2.1.23) was found to be extremely low in enzyme preparations from liver, brain, and cultured skin fibroblasts from patients with Krabbe's disease. Leukocytes from one set of parents had enzyme levels approximately half those measured in control leukocytes. The low activity observed for this galactolipid ...
متن کاملHematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides.
Hematopoietic cell transplantation (HCT) prolongs survival in the twitcher mouse, an authentic animal model of human globoid cell leukodystrophy (Krabbe disease; galactosylceramidase deficiency), but the effects of HCT on levels of galactosylceramidase, psychosine, and cerebrosides in the tissues of twitcher mice have not been previously studied. Galactosylceramidase was less than 8% of control...
متن کاملGloboid cell leukodystrophy (GLD) is a rapidly progress- ing pediatric neurodegenerative disease caused by missing or dysfunctional lysosomal enzyme galactosylceramidase
Journal of Lipid Research Volume 54, 2013 3303 Copyright © 2013 by the American Society for Biochemistry and Molecular Biology, Inc. Globoid cell leukodystrophy (GLD) is a rapidly progressing pediatric neurodegenerative disease caused by missing or dysfunctional lysosomal enzyme galactosylceramidase (GALC). Hallmarks of this disease include macrophage (globoid cell) infi ltration into the brain...
متن کاملHematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central nervous system deterioration. We investigated whether allogeneic hematopoietic stem-cell transplantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of central nervous system function in patients with the disease. METHODS Fiv...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Brain
سال: 2013
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awt215