Sugar-bisphosphates to cure PMM2-CDG?

Autor: M. Allocca, M. Monticelli, MV Cubellis, G. Andreotti

Publikováno v: 5th World Conference on Congenital Disorders of Glycosylation. Lisbon (Portugal), May 13-16, 2021
info:cnr-pdr/source/autori:M. Allocca, M. Monticelli, MV Cubellis and G. Andreotti/congresso_nome:5th World Conference on Congenital Disorders of Glycosylation. Lisbon (Portugal),/congresso_luogo:/congresso_data:May 13-16, 2021/anno:2021/pagina_da:/pagina_a:/intervallo_pagine

INTRODUCTION PMM2-CDG is the most common congenital disorder of glycosylation (CDGs). It is caused by mutations in the gene PMM2, encoding the enzyme phosphomannomutase-2 (PMM2). A defective PMM2 leads to GDP- mannose deficiency and hypoglycosylation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::47c3a4b8480c0b1ef050095ef0845871
https://publications.cnr.it/doc/459497

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