نتایج جستجو برای: mucolipidosis

تعداد نتایج: 464  

2005
GEORGIRENE D. VLADUTIU

I-cell disease (mucolipidosis II) is presented as a model for endoand exo-cytosis phenomena in man. A hypothesis is presented for the structure of the carbohydrate recognition site on fibroblast-derived fJ-D-N-acetylhexosaminidase that may extend to the other affected hydrolases and that is responsible for specific uptake of the enzyme by fibroblasts. The proposed neuraminidase deficiency in I-...

Journal: :Journal of Medical Genetics 1992

Journal: :Journal of Clinical Medicine 2020

Journal: :The Biochemical journal 1980
D J Halley B G Winchester L J Burditt A d'Azzo D Robinson H Galjaard

The intracellular and extracellular acidic alpha-mannosidase in cultures of fibroblasts from mucolipidosis-II patients has normal kinetics. The extracellular activity in cultures of cells from mannosidosis patients is normal, but a mutant enzyme is associated with the cell surface and intracellular fraction. The results support the involvement of membrane cycling and recognition markers in lyso...

Journal: :Journal of mucopolysaccharidosis and rare disease 2016

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2014

Journal: :Molecular Genetics and Metabolism 2014

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