Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III
نویسندگان
چکیده
منابع مشابه
Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III c
UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is an a2b2c2 hexameric enzyme that catalyzes the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. Mutations in the a/b subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis II (ML II) or the more moderate mucolipidosis III alpha/beta (ML III a/b), while mutations in the ...
متن کاملNeurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is an α2β2γ2 hexameric enzyme that catalyzes the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. Mutations in the α/β subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis II (ML II) or the more moderate mucolipidosis III alpha/beta (ML III α/β), while mutations in the ...
متن کاملCorrection: Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
multiple instances of "Gnptab-/-" being published as "Gnptg-/-". The publisher apologizes for this error. Please download the article again to view the corrected version. The originally published, uncorrected article and the republished, corrected article are provided here for reference. Copyright: ß 2014 The PLOS ONE Staff. This is an open-access article distributed under the terms of the Crea...
متن کاملDiagnostic strategy for mucolipidosis II/III.
Overlapping clinical phenotypes are a diagnostic challenge to the clinician, especially in the cases of mucolipidosis (ML) and mucopolysaccharide disorders (MPS), due to overlapping phenotypes. Present study was carried out in 147 children suspected to have ML or MPS and 100 controls. They were screened for ML II/III by colorimetric method using substrate pNCS. Six children were found screen po...
متن کاملMucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.
The genetic relationships between the multiple variants of mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy) were investigated with a sensitive genetic complementation analysis procedure. These clinically distinct disorders have defects in the synthesis of a recognition marker necessary for the intracellular transport of acid hydrolases into lysosomes. Both d...
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ژورنال
عنوان ژورنال: Biochemical Journal
سال: 1979
ISSN: 0264-6021
DOI: 10.1042/bj1770409