A complement C4-derived glycopeptide is a biomarker for PMM2-CDG

CONCLUSIONComplement C4-derived Man5GlcNAc2 glycopeptide could be a biomarker for accurate diagnosis and therapeutic monitoring of patients with PMM2-CDG and other CDGs.FUNDINGU54NS115198 (Frontiers in Congenital Disorders of Glycosylation: NINDS; NCATS; Eunice Kennedy Shriver NICHD; Rare Disorders Consortium Disease Network); K08NS118119 (NINDS); Minnesota Partnership for Biotechnology and Medical Genomics; Rocket Fund; R01DK099551 (NIDDK); Mayo Clinic DERIVE Office; Mayo Clinic Center for Biomedical Discovery; IA/CRC/20/1/600002 (Center for Rare Disease Diagnosis, Research and Training; DBT/Wellcome Trust India Alliance).PMID:38587076 | DOI:10.1172/jci.insight.172509

Source: Genomics Proteomics ... - April 8, 2024 Category: Genetics & Stem Cells Authors: Kishore Garapati Rohit Budhraja Mayank Saraswat Jinyong Kim Neha Joshi Gunveen S Sachdeva Anu Jain Anna N Ligezka Silvia Radenkovic Madan Gopal Ramarajan Savita Udainiya Kimiyo Raymond Miao He Christina Lam Austin Larson Andrew C Edmondson Kyriakie Sarafo Source Type: research