Ontology highlight
ABSTRACT:
SUBMITTER: Chandrasekharan K
PROVIDER: S-EPMC2950110 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Chandrasekharan Kumaran K Yoon Jung Hae JH Xu Ying Y deVries Sarah S Camboni Marybeth M Janssen Paulus M L PM Varki Ajit A Martin Paul T PT
Science translational medicine 20100701 42
During the evolution of humans, an inactivating deletion was introduced in the CMAH (cytidine monophosphate-sialic acid hydroxylase) gene, which eliminated biosynthesis of the common mammalian sialic acid N-glycolylneuraminic acid from all human cells. We found that this human-specific change in sialylation capacity contributes to the marked discrepancy in phenotype between the mdx mouse model for Duchenne muscular dystrophy (DMD) and the human disease. When compared to human patients with DMD, ...[more]