ArticleMolecular and cellular biology2006
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Article in Molecular and cellular biology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- Lipo-Glc-1,6-PIUBMB life · 2026Article
- Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis.Biology open · 2025Article
- Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.Archives of Iranian medicine · 2025Review
- Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.bioRxiv : the preprint server for biology · 2025Article
- AAV-based gene replacement therapy prevents and halts manifestation of abnormal neurological phenotypes in a novel mouse model of PMM2-CDG.Gene therapy · 2025Article
- Article
- Polymorphic variants ofInternational journal of ophthalmology · 2025Article
- Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.Oxidative medicine and cellular longevity · 2023Article
- Concerted Regulation of Glycosylation Factors Sustains Tissue Identity and Function.Biomedicines · 2022Article
- Article
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.Development (Cambridge, England) · 2021Article
- GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.Molecular biomedicine · 2021Article
- Rescuing lethal phenotypes induced by disruption of genes in mice: a review of novel strategies.Physiological research · 2021Review
- Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.BMC medical genetics · 2019Article
- A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.Journal of inherited metabolic disease · 2019Article
- Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.G3 (Bethesda, Md.) · 2019Article
- Structural Basis of the Molecular Switch between Phosphatase and Mutase Functions of Human Phosphomannomutase 1 under Ischemic Conditions.Biochemistry · 2018Article
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
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5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Mutations in the cytosolic enzyme phosphomannomutase 2 (PMM2), which catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, cause the most common form of congenital disorders of glycosylation, termed CDG-Ia. It is an inherited multisystemic disease with severe neurological impairment. To study the pathophysiology of CDG-Ia and to investigate possible therapeutic approaches, we generated a mouse model for CDG-Ia by targeted disruption of the Pmm2 gene. Heterozygous mutant mice appeared normal in development, gross anatomy, and fertility. In contrast, embryos homozygous for the Pmm2-null allele were recovered in embryonic development at days 2.5 to 3.5. These results indicate that Pmm2 is essential for early development of mice. Mating experiments of heterozygous mice with wild-type mice could further show that transmission of the female Pmm2-null allele is impaired.
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