Sort   by:  
 Page size 
ProteomicsMitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy
Phosphoglucomutase 1 (PGM1) enzyme plays a central role in metabolism, by bridging glycolysis, glycogen metabolism and glycosylation. PGM1 deficiency is a rare congenital disorder of glycosylation (CDG) known for its unusually high incidence of lethal cardiac complications. While the role of PGM1 in...
ORGANISM(S): Homo sapiens (Human) 
2026-02-09 | PXD057756 | Pride
Human Glycosylation Multiomics Cardiomyocytes Cdg Lc-ms/ms 
ProteomicsAAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a new mouse model of inherited phosphoglucomutase 1 deficiency (PGM1-CDG)
PGM1 deficiency is recognized as the third most common N-linked Congenital Disorders of Glycosylation (CDG) in humans. Affected individuals present with liver, musculoskeletal, endocrine, and coagulation symptoms; however, the most life-threatening complication is an early onset of dilated cardiomyo...
ORGANISM(S): Mus musculus (Mouse) 
2023-08-18 | PXD036271 | Pride
Pgm1-cdg Heart Glycoproteomics Mouse Proteomics 
UnknownCoagulation abnormalities and vascular complications are common in PGM1-CDG.
Not available
S-EPMC12682075 | biostudies-literature
UnknownOral D-galactose supplementation in PGM1-CDG.
Not available
S-EPMC5675745 | biostudies-literature
UnknownThe Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Not available
S-EPMC6506806 | biostudies-literature
UnknownInternational consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Not available
S-EPMC7855268 | biostudies-literature
UnknownSuccessful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).
Not available
S-EPMC9981415 | biostudies-literature
UnknownNovel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
Not available
S-EPMC10032428 | biostudies-literature
UnknownNews on Clinical Details and Treatment in PGM1-CDG.
Not available
S-EPMC5580736 | biostudies-literature
UnknownResolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology.
Not available
S-EPMC12461406 | biostudies-literature
Sort   by:  
 Page size