Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

Article Abstract:

The recombinant GlcNAc-1-phosphotransferase gamma subunit is used as an affinity matrix to purify an unknown protein identified as the product of GNPTA. Retroviral transduction of fibroblasts from an individual with mucolipidosis II resulted in the expression and localization of GNPTA in the Golgi apparatus, accompanied by the correction of hypersecretion of lysosomal enzymes.

Phosphotransferases, Mucolipidoses

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Human sebaceous tumors harbor inactivating mutations in LEF1

Article Abstract:

Mutant LEF1 not only inhibited expression of beta-catenin target genes but also stimulated expression of sebocyte markers, suggesting that it may determine the differentiated characteristic of sebaceous tumors. The mutants described are the first human-associated mutations that antagonize beta-catenin-mediated transcriptional activation of TCF-LEF-regulated genes.

United States, Genetic aspects, Genetic transcription, Transcription (Genetics), Epidermal cyst, Epidermal cysts

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Rhesus monkey TRIM5[alpha] restricts HIV-1 production through rapid degradation of viral Gag polyproteins

Article Abstract:

The article presents a study of how mammalian cells, like rhesus monkey, restrict retroviral infection in different ways. It was found that a cellular factor actively degrades a viral protein, which in turn blocks HIV-1 production in the individual.

Science & research, Research, Rhesus monkey, Viral proteins, Retrovirus infections

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