Correction: Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
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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 Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
منابع مشابه
Neurologic 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 کاملNeurologic 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 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...
متن کاملLysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.
OBJECTIVE To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. DESIGN Review of medical records. SETTING Specialized Genetic Center. PARTICIPANTS 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs). METHODS Plasma chitotriosid...
متن کاملOral findings in patients with mucolipidosis type III.
Mucolipidosis type III is a rare, autosomal recessive disorder, which is part of a group of storage diseases as a result of inborn error of lysosomal enzyme metabolism. It is characterized by the gradual onset of signs and symptoms affecting the physical and mental development as well as visual changes, heart, skeletal and joint. Although oral findings associated with mucolipidosis type II have...
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عنوان ژورنال:
دوره 9 شماره
صفحات -
تاریخ انتشار 2014