ArticleJournal of inherited metabolic disease2019
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.
Article in Journal of inherited metabolic disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.Journal of inherited metabolic disease · 2021Guideline
- AAV-based gene replacement therapy prevents and halts manifestation of abnormal neurological phenotypes in a novel mouse model of PMM2-CDG.Gene therapy · 2025Article
- AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).Translational research : the journal of laboratory and clinical medicine · 2023Article
- FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.Human molecular genetics · 2023Article
- DYRK3 phosphorylates SNAPIN to regulate axonal retrograde transport and neurotransmitter release.Cell death discovery · 2022Article
- Mendelian gene identification through mouse embryo viability screening.Genome medicine · 2022Article
- Emerging roles of N-linked glycosylation in brain physiology and disorders.Trends in endocrinology and metabolism: TEM · 2021Review
- Rescuing lethal phenotypes induced by disruption of genes in mice: a review of novel strategies.Physiological research · 2021Review
- Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.Molecular genetics and metabolism · 2021Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Patients with phosphoglucomutase (PGM1) deficiency, a congenital disorder of glycosylation (CDG) suffer from multiple disease phenotypes. Midline cleft defects are present at birth. Overtime, additional clinical phenotypes, which include severe hypoglycemia, hepatopathy, growth retardation, hormonal deficiencies, hemostatic anomalies, frequently lethal, early-onset of dilated cardiomyopathy and myopathy emerge, reflecting the central roles of the enzyme in (glycogen) metabolism and glycosylation. To delineate the pathophysiology of the tissue-specific disease phenotypes, we constructed a constitutive Pgm2 (mouse ortholog of human PGM1)-knockout (KO) mouse model using CRISPR-Cas9 technology. After multiple crosses between heterozygous parents, we were unable to identify homozygous life births in 78 newborn pups (P = 1.59897E-06), suggesting an embryonic lethality phenotype in the homozygotes. Ultrasound studies of the course of pregnancy confirmed Pgm2-deficient pups succumb before E9.5. Oral galactose supplementation (9 mg/mL drinking water) did not rescue the lethality. Biochemical studies of tissues and skin fibroblasts harvested from heterozygous animals confirmed reduced Pgm2 enzyme activity and abundance, but no change in glycogen content. However, glycomics analyses in serum revealed an abnormal glycosylation pattern in the Pgm2
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