Gfpt1, the rate limiting enzyme of the hexosamine biosynthetic pathway (HBP), provides the UDP-GlcNAc required for protein glycosylation. Biallelic mutations in GFPT1 cause congenital myasthenic syndromes (GFPT1-CMS), yet the molecular mechanisms linking impaired glycosylation to skeletal muscle dys...
ORGANISM(S): Mus musculus (Mouse)
