Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

P Mohammadi, MA Daneshmand, N Mahdieh… - Acta Neurologica …, 2021 - Springer
Muscular dystrophy-dystroglycanopathies are autosomal recessive neurologic disorders,
caused by homozygous or compound heterozygous mutations in the POMGNT1 gene …

Alanine-scanning mutagenesis of protein mannosyl-transferase from Streptomyces coelicolor reveals strong activity-stability correlation

NDM Holman, AJ Wilkinson, MCM Smith - Microbiology, 2021 - microbiologyresearch.org
In Actinobacteria, protein O-mannosyl transferase (Pmt)-mediated protein O-glycosylation
has an important role in cell envelope physiology. In S. coelicolor, defective Pmt leads to …