نتایج جستجو برای: mucolipidosis
تعداد نتایج: 464 فیلتر نتایج به سال:
Mucolipidosis II is a severe lysosomal storage disorder caused by defects in the α and β subunits of the hexameric N-acetylglucosamine-1-phosphotransferase complex essential for the formation of the mannose 6-phosphate targeting signal on lysosomal enzymes. Cleavage of the membrane-bound α/β-subunit precursor by an unknown protease is required for catalytic activity. Here we found that the α/β-...
The lysosomal storage disorder mucolipidosis III αβ is caused by mutations in the αβ subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (phosphotransferase). This Golgi-localized enzyme mediates the first step in the synthesis of the mannose 6-phosphate recognition marker on lysosomal acid hydrolases, and loss of function results in impaired lysosomal targeting of ...
1. R. Schiffmann R, Dwyer NK, Lubensky IA, Tsokos M, Sutliff VE, Latimer JS, K.P. Frei KP, Brady RO, Barton NW, Blanchette-Mackie EJ, Goldin E. Constitutive achlorhydria in mucolipidosis type IV. Proc Natl Acad Sci USA 1998;95:1207–12. 2. Lubensky IA, Schiffmann R, Goldin E, Tsokos M. Lysosomal inclusions in gastric parietal cells in Mucolipidosis type IV: a novel cause of achlorhydria and hype...
The ocular and systemic findings in four children with mucolipidosis IV (ML IV), a new variant of mucolipidosis, are described. Corneal clouding from birth or early infancy is a prominent feature in all of the patients and in two of them, this was the presenting symptom. Psychomotor retardation usually does not become apparent until the end of the first year of life. Conjunctival biopsies revea...
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