Function and Mutations of the GNE Gene Leading to Distal Myopathy with Rimmed Vacuoles/Hereditary Inclusion-Body Myopathy, Animal Models, and Potential Treatment

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Function and Mutations of the GNE Gene Leading to Distal Myopathy with Rimmed Vacuoles/Hereditary Inclusion-Body Myopathy, Animal Models, and Potential Treatment

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wetenschappelijk artikel

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наукова стаття, опублікована в грудні 2011

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Function and Mutations of the ...... odels, and Potential Treatment

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Function and Mutations of the ...... odels, and Potential Treatment

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Function and Mutations of the ...... odels, and Potential Treatment

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Function and Mutations of the ...... odels, and Potential Treatment

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Function and Mutations of the ...... odels, and Potential Treatment

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Function and Mutations of the ...... odels, and Potential Treatment

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P1476

Function and Mutations of the ...... odels, and Potential Treatment

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P2093

Ichizo Nishino

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May Christine V. Malicdan

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Satoru Noguchi

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P2860

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase

The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis

Dominant inheritance of sialuria, an inborn error of feedback inhibition

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism

A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Hereditary inclusion body myopathy: a decade of progress

Hereditary inclusion body myopathy maps to chromosome 9p1-q1

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

P304

175-190

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scholarly article

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10.1002/9781444398311.CH11

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2011-12-19T00:00:00Z

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