Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Article Abstract:

The mutations in genes encoding protein directly involved in the glycosylation pathway result in congenital disorders of glycosylation (CDG) that are characterized by defects in N-linked glycan biosynthesis are described. The clinical presentation of the COG-7 defect as a glycosylation disorder are detailed.

Care and treatment, Golgi apparatus

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Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation on transgenic mice

Article Abstract:

The muscular dystrophies are a heterogeneous group of disorders for which there are no cures. Oculapharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset, progressive disease that generally presents in the fifth or sixth decade with dysphagia, ptosis and proximal limb weakness.

Genetic aspects, Doxycycline

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Glycosylation eases muscular dystrophy

Article Abstract:

Mutations in genes that regulate glycosylation of alpha-dystroglycan are associated with several forms of muscular dystrophy. Results of a study reveal that forced overexpression of one of these genes, LARGE, in mice overcomes the defective glycosylation present in this group of disorders.

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