The Gne M712T Mouse as a Model for Human Glomerulopathy
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چکیده
منابع مشابه
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Ganglioside GM3 Levels Are Altered in a Mouse Model of HIBM: GM3 as a Cellular Marker of the Disease
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Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder. We created knockin mice harboring the M712T Gne/Mnk mutation. Homozygous mutant (Gne(M712T/M712T)) mice did not survive beyond P3. At P2, ...
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ژورنال
عنوان ژورنال: The American Journal of Pathology
سال: 2012
ISSN: 0002-9440
DOI: 10.1016/j.ajpath.2011.12.023