Affinage

PGM1

Phosphoglucomutase-1 · UniProt P36871

Length
562 aa
Mass
61.4 kDa
Annotated
2026-06-10
100 papers in source corpus 15 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PGM1 is an α-D-phosphohexomutase that catalyzes the reversible interconversion of glucose-1-phosphate and glucose-6-phosphate through a ping-pong kinetic mechanism, positioning it at a metabolic branch point that supplies both glycogen metabolism and the nucleotide-sugar pool (UDP-glucose, UDP-galactose) required for ER- and Golgi-linked glycosylation (PMID:6240990, PMID:30982613, PMID:32221390). Crystal structures of free enzyme and of G1P- and G6P-bound complexes define the substrate-binding architecture, and missense variants clustering in the domain-4 (D4) substrate-binding loop abolish activity by disrupting conserved ligand contacts and constraining loop mobility, making this loop a disease-variant hotspot (PMID:32221390, PMID:30122451). Loss of PGM1 function causes a congenital disorder of glycosylation in which depletion of glucose-1-phosphate impairs both glycogen handling and glycan synthesis; galactose supplementation metabolically re-wires sugar flux to replenish UDP-galactose and restore glycan synthesis (PMID:30982613). Beyond its catalytic role, PGM1 is required for cardiac and muscle integrity: cardiomyocyte-specific knockout produces dilated cardiomyopathy with glycogen accumulation, Z-disk disarray, and mitochondrial dysfunction rescuable by gene replacement, and PGM1 deficiency impairs myotube maturation and mitochondrial respiration in a manner not corrected by galactose, indicating a glycosylation-independent energy and structural deficit (PMID:36709920, PMID:37175952, PMID:41723528). This non-enzymatic role is linked to a direct interaction with the Z-disk protein LDB3/ZASP (PMID:41723528). PGM1 abundance is controlled transcriptionally — repressed by IRF6 acting on promoter 3 (PMID:40796729) — and post-translationally, with destabilized variants cleared by proteasomal protein quality control (PMID:38743592) and the enzyme stabilized within a Sec13–Ubqln1 complex that restrains its ubiquitination (PMID:39159700). Under glucose deprivation, AMPK–HDAC8 signaling upregulates PGM1 to sustain glycolysis and oxidative metabolism in cancer cells (PMID:32171858).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1984 High

    Established the catalytic and regulatory behavior of PGM1 as a phosphohexomutase, distinguishing it kinetically from PGM2 and defining its substrate, cofactor, and inhibitor profile.

    Evidence In vitro kinetic assays on purified human erythrocyte isoenzymes

    PMID:6240990

    Open questions at the time
    • No structural basis for the kinetic mechanism
    • Cellular and physiological role not addressed
  2. 1993 High

    Resolved the molecular origin of the classical PGM1 protein polymorphism, showing it arises from two point mutations plus intragenic recombination rather than multiple independent loci.

    Evidence DNA sequencing of the entire coding region in individuals of known protein phenotype

    PMID:7902568

    Open questions at the time
    • Functional consequences of the polymorphic residues not characterized
    • No disease association established for the common alleles
  3. 1997 Medium

    Showed that PGM1 deficiency can arise from transcriptional dysregulation rather than gene loss, implicating regulation of expression as a determinant of enzyme availability.

    Evidence Activity staining, immunoblot, FISH, Southern blot, and RT-PCR in K562 erythroleukemic cells

    PMID:9177117

    Open questions at the time
    • Specific transcriptional regulators not identified
    • Mechanism of mRNA suppression unresolved
  4. 2015 Low

    Proposed a glycosylation-independent route to PGM1-CDG cardiomyopathy via impaired binding to the Z-disk protein ZASP/LDB3, separating structural from metabolic disease mechanisms.

    Evidence Clinical molecular analysis with mechanistic inference from patient mutations

    PMID:26303607

    Open questions at the time
    • No direct biochemical confirmation of the PGM1-ZASP interaction in this study
    • Single clinical case series
  5. 2018 High

    Defined the D4 substrate-binding loop as a structural hotspot where disease variants abolish activity through combined loss of ligand contacts and reduced loop dynamics, linking genotype to enzymatic failure.

    Evidence Biochemical activity assays, crystal structures of variants, and molecular dynamics

    PMID:30122451

    Open questions at the time
    • Does not address non-catalytic functions of the protein
    • In vivo consequences of D4 variants not tested
  6. 2019 High

    Mechanistically connected PGM1 deficiency to dual impairment of glycogen metabolism and glycosylation, and explained galactose therapy as metabolic re-wiring that replenishes UDP-sugars.

    Evidence Tracer-based metabolomics and de novo glycan labeling in patient fibroblasts

    PMID:30982613

    Open questions at the time
    • Does not explain glycosylation-independent phenotypes
    • Tissue-specific differences in metabolic rescue not addressed
  7. 2020 High

    Provided atomic-resolution views of human PGM1 with substrate and product bound, defining the structural basis of substrate and product recognition.

    Evidence X-ray crystallography of apo, G1P-bound, and G6P-bound enzyme

    PMID:32221390

    Open questions at the time
    • Catalytic intermediate states not captured
    • No structural information on regulatory interactions
  8. 2020 Medium

    Placed PGM1 downstream of AMPK–HDAC8 signaling as a stress-induced metabolic effector supporting cancer cell survival under glucose deprivation.

    Evidence AMPK and HDAC8 perturbation, ChIP, fractionation, and metabolic flux in lung cancer cells

    PMID:32171858

    Open questions at the time
    • Direct HDAC8 occupancy at the PGM1 locus versus indirect effects not fully separated
    • Generality beyond lung cancer untested
  9. 2022 Low

    Suggested a tumor-suppressive role for PGM1 in colorectal cancer acting through PI3K/AKT signaling.

    Evidence Knockdown/overexpression, migration/invasion assays, and pathway analysis in CRC lines with in vivo tumor assays

    PMID:35614441

    Open questions at the time
    • Pathway placement based on inhibitor studies without reconstitution
    • Mechanistic link between catalytic activity and PI3K/AKT unclear
  10. 2023 High

    Established a causal in vivo requirement for PGM1 in cardiac integrity, demonstrating dilated cardiomyopathy on loss and rescue by gene replacement.

    Evidence Cardiomyocyte-specific conditional knockout mouse with echocardiography, ultrastructure, multi-omics, and AAV9 gene therapy

    PMID:36709920

    Open questions at the time
    • Does not separate metabolic from structural contributions to the phenotype
    • Mechanism linking PGM1 loss to mitochondrial fragmentation unresolved
  11. 2023 High

    Demonstrated a glycosylation-independent energy deficit upon PGM1 loss, showing impaired galactose-fueled respiration and myotube maturation not corrected by galactose.

    Evidence CRISPR knockout in C2C12 myoblasts with 13C-galactose tracing and Seahorse respirometry

    PMID:37175952

    Open questions at the time
    • Molecular basis of the mitochondrial defect not defined
    • Does not identify the non-metabolic effector responsible
  12. 2024 Medium

    Showed that destabilized disease variants are eliminated by chaperone-dependent proteasomal quality control, defining a degradation route for misfolded PGM1.

    Evidence Yeast solubility/activity, ubiquitylation, proteasome inhibition, and chaperone-dependency assays with computational mutagenesis

    PMID:38743592

    Open questions at the time
    • Human E3 ligases and chaperones for PGM1 not identified
    • Conducted in a yeast heterologous system
  13. 2024 Medium

    Identified a Sec13–PGM1–Ubqln1 complex in which Sec13 stabilizes PGM1 by restraining its ubiquitination, linking PGM1 abundance to glycolytic output in acute lung injury.

    Evidence Co-immunoprecipitation, ubiquitination assays, and knockdown with metabolic readouts in ALI models

    PMID:39159700

    Open questions at the time
    • Ubqln1 ubiquitination of PGM1 not reconstituted
    • Single lab without independent confirmation
  14. 2025 Medium

    Confirmed a direct PGM1-LDB3 interaction and tied PGM1 deficiency to contractile, Z-disk, and mitochondrial defects in patient-derived cardiomyocytes, substantiating the non-enzymatic structural role.

    Evidence Patient iPSC-derived cardiomyocytes with MEA recordings, glycoproteomics, AlphaFold3 modeling, in vitro binding, and tracer metabolomics

    PMID:41723528

    Open questions at the time
    • Interaction interface and affinity not quantified
    • Causal contribution of LDB3 binding versus metabolic deficit not dissected
  15. 2025 Medium

    Identified IRF6 as a direct transcriptional repressor of PGM1 via promoter 3, with TRIM59-mediated IRF6 degradation relieving repression to drive glycolysis in neuroblastoma.

    Evidence RNA-seq, ChIP, dual-luciferase reporters, and overexpression/knockdown rescue in vitro and in vivo

    PMID:40796729

    Open questions at the time
    • Generality of IRF6-PGM1 regulation beyond neuroblastoma untested
    • Interplay with AMPK-HDAC8 regulation unexplored

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the catalytic (glycosylation/glycogen) and non-enzymatic (Z-disk/LDB3, mitochondrial) functions of PGM1 are mechanistically separated and coordinated in muscle and heart remains unresolved.
  • No structural model of the PGM1-LDB3 interface at residue resolution
  • Mechanism linking PGM1 loss to mitochondrial fragmentation undefined
  • Unknown whether disease variants disrupt catalysis, structural binding, or both

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016853 isomerase activity 4 GO:0016740 transferase activity 2
Localization
GO:0005829 cytosol 1
Pathway
R-HSA-1430728 Metabolism 4 R-HSA-392499 Metabolism of proteins 2
Partners
LDB3SEC13UBQLN1
Complex memberships
Sec13-PGM1-Ubqln1 complex

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1984 PGM1 and PGM2 isoenzymes share a 'ping-pong' kinetic mechanism with similar Km for substrate (glucose-1-P) and cofactor (glucose-1,6-P2). Micromolar concentrations of fructose-1,6-P2 and glycerate-2,3-P2 inhibit both isoenzymes similarly. PGM2, but not PGM1, is affected by ribose monophosphates (ribose-1-P and ribose-5-P), which act as inhibitors vs. glucose-1,6-P2 and apparent activators vs. glucose-1-P. In vitro kinetic assays on purified human erythrocyte isoenzymes Biochimie High 6240990
1993 The classical human PGM1 isozyme polymorphism is generated by only two point mutations: a C→T transition at nt 723 (Arg→Cys at residue 220, responsible for the PGM1 2/1 polymorphism) and a C→T transition at nt 1320 (Tyr→His at residue 419, responsible for the PGM1 +/- polymorphism). One of the four common alleles must have arisen by homologous intragenic recombination between these two mutation sites. DNA sequencing of the entire PGM1 coding region in individuals of known protein phenotype Proceedings of the National Academy of Sciences of the United States of America High 7902568
2019 PGM1 catalyzes the interconversion of glucose-6-P and glucose-1-P, and its deficiency impairs both glycogen metabolism and glycosylation by depleting glucose-1-P, UDP-glucose, and UDP-galactose needed for ER- and Golgi-linked glycosylation. Tracer-based metabolomics in PGM1-CDG patient fibroblasts showed that galactose treatment replenishes galactose-1-P, UDP-glucose, and UDP-galactose, metabolically re-wiring sugar metabolism and restoring glycan synthesis. Tracer-based metabolomics in patient fibroblasts; incorporation of galactose-derived label into mature de novo glycans American journal of human genetics High 30982613
2020 Crystal structures of PGM1 isoform 2 (free enzyme and in complex with substrate G1P and product G6P) reveal the structural basis for substrate and product recognition. The structures show the longer N-terminal of isoform 2 and detailed ligand-binding interactions for the first time in human PGM1. X-ray crystallography (three crystal structures: apo, G1P-bound, G6P-bound) Scientific reports High 32221390
2018 Missense variants within a substrate-binding loop in domain 4 (D4) of PGM1 cause extreme impairment of enzymatic activity through loss of conserved ligand-binding interactions and reduced mobility of the D4 loop, due to perturbation of its conformational ensemble. These synergistic effects make this loop a hotspot for disease-related variants. Biochemical activity assays, crystal structures of PGM1 variants, and molecular dynamics computational studies Structure High 30122451
2020 Under glucose deprivation, AMPK activation induces HDAC8 phosphorylation, causing HDAC8 translocation from nucleus to cytoplasm, disrupting HDAC8-histone 3 binding, and consequently upregulating PGM1 expression. Elevated PGM1 supports lung cancer cell survival by sustaining glycolysis, the oxidative pentose phosphate pathway, and oxidative phosphorylation under glucose deprivation, and mediates aberrant expression of metabolic enzymes via ERK1/2. AMPK activation/inhibition experiments, HDAC8 phosphorylation assays, nuclear-cytoplasmic fractionation, ChIP, PGM1 knockdown/overexpression in lung cancer cells with metabolic flux measurements Cancer letters Medium 32171858
2023 In a cardiomyocyte-specific conditional Pgm2 (mouse ortholog of human PGM1) knockout mouse model, loss of PGM1 causes dilated cardiomyopathy with reduced ejection fraction, excess glycogen accumulation, fibrosis, Z-disk disarray, swollen/fragmented mitochondria, decreased mitochondrial function, and broad glycosylation changes including significant alterations in sarcolemmal proteins (e.g., laminin-211 subunits). AAV9-mediated PGM1 gene replacement prevented and halted DCM progression. Conditional cardiomyocyte-specific knockout mouse, echocardiography, histology, ultrastructural analysis, transcriptomics, proteomics, glycoproteomics, AAV9 gene therapy rescue Translational research High 36709920
2023 In Pgm1 knockout C2C12 myoblasts, loss of PGM1 impairs maturation to myotubes. Dynamic flux analysis using 13C6-galactose revealed a block in the use of galactose for energy production. Knockout cells showed lower basal respiration and mitochondrial ATP production capacity, which were not restored by D-galactose supplementation, indicating a glycosylation-independent energy deficit. CRISPR/Cas9 knockout of Pgm1 in C2C12 myoblasts, 13C6-galactose tracer metabolomics, mitochondrial respiration assays (Seahorse) International journal of molecular sciences High 37175952
2015 DCM in PGM1-CDG can develop as a consequence of impaired binding of PGM1 to the heart-specific isoform of ZASP (LDB3), a sarcomeric Z-disk protein, independently of overall glycosylation efficiency. Thus, even when PGM1 mutations impair the ZASP-PGM1 complex, galactose supplementation cannot be expected to restore that function. Clinical molecular analysis; mechanistic inference from mutations affecting PGM1-ZASP interaction independently of glycosylation phenotype JIMD reports Low 26303607
2024 The disease-associated PGM1 variant L516P is insoluble, catalytically inactive, forms aggregates in S. cerevisiae, and is rapidly ubiquitylated and degraded by the proteasome. Both the aggregation pattern and abundance of PGM1 L516P are chaperone-dependent, indicating that destabilized disease-linked PGM1 variants are subject to protein quality control (PQC)-linked degradation. Yeast-based solubility and activity assays, ubiquitylation assays, proteasome inhibitor experiments, chaperone dependency experiments, computational saturation mutagenesis Biochemistry Medium 38743592
2024 Sec13 forms a protein complex with PGM1 and Ubqln1 (an ubiquitin ligase). Sec13 inhibits Ubqln1-mediated ubiquitination of PGM1, thereby stabilizing PGM1 and sustaining glycolysis (G6P production) in acute lung injury. Knockdown of Sec13 decreased PGM1 levels and reduced glycolytic output. Co-immunoprecipitation, protein complex analysis, ubiquitination assays, Sec13 and Pgm1 knockdown with metabolic readouts (lactate, G6P) in ALI mouse and cell models Biochimica et biophysica acta. Molecular basis of disease Medium 39159700
2025 PGM1-deficient iPSC-derived cardiomyocytes (iCMs) exhibit reduced beating frequency, impaired contractility, and prolonged contraction kinetics. Proteomic analysis revealed depletion of Z-disk components including LDB3 (ZASP). AlphaFold3 structural modeling predicted a direct PGM1-LDB3 interaction, which was confirmed by in vitro binding assay. Mitochondrial proteins were severely depleted, mitochondrial respiration was impaired, and extensive metabolic rewiring with energy depletion was demonstrated by tracer metabolomics. iPSC-derived cardiomyocytes from patient fibroblasts, multielectrode array (MEA) recordings, untargeted (glyco)proteomics, AlphaFold3 structural modeling, in vitro binding confirmation, tracer metabolomics, mitochondrial respiration assays Journal of translational medicine Medium 41723528
2022 PGM1 suppresses colorectal cancer cell migration and invasion, and its overexpression inhibits cell proliferation and promotes apoptosis; these effects are mediated via the PI3K/AKT signaling pathway. PGM1 knockdown and overexpression in CRC cell lines, Transwell migration/invasion assays, PI3K/AKT pathway analysis, in vivo tumor formation Cancer cell international Low 35614441
2025 IRF6 inhibits PGM1 expression by decreasing the transcriptional activity of promoter 3 of PGM1, as shown by ChIP and dual-luciferase reporter assays. PGM1 overexpression reverses the inhibitory effects of IRF6 on neuroblastoma cell proliferation and glycolysis. Additionally, the E3 ligase TRIM59 mediates polyubiquitination and degradation of IRF6, thereby relieving IRF6-mediated transcriptional repression of PGM1. RNA sequencing, ChIP, dual-luciferase reporter assays, IRF6/PGM1 overexpression and knockdown, in vitro and in vivo proliferation and glycolysis assays Cell death & disease Medium 40796729
1997 In the erythroleukaemic K562 cell line, complete absence of PGM1 enzyme activity and immunoreactive protein is associated with very low levels of apparently full-length PGM1 mRNA, despite the presence of structurally intact PGM1 gene copies on chromosomes 1. This indicates that PGM1 deficiency in K562 is caused by abnormal regulation of transcription rather than gene deletion or gross rearrangement. Isoelectric focusing/activity staining, immunoblot with monospecific anti-PGM1 antibodies, FISH, Southern blot, RT-PCR Annals of human genetics Medium 9177117

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1993 PG-M1: a new monoclonal antibody directed against a fixative-resistant epitope on the macrophage-restricted form of the CD68 molecule. The American journal of pathology 286 7684194
2004 Macrophage specificity of three anti-CD68 monoclonal antibodies (KP1, EBM11, and PGM1) widely used for immunohistochemistry and flow cytometry. Annals of the rheumatic diseases 129 15194571
1978 Genetic evidence for four common alleles at the phosphoglucomutase-1 locus (PGM1) detectable by isoelectric focusing. Vox sanguinis 100 622823
1977 Evidence for two additional common alleles at the PGM1 locus (phosphoglucomutase--E.C.: 2.7.5.1). A comparison by three different techniques. Human genetics 92 844869
2019 The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. American journal of human genetics 67 30982613
2020 AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation. Cancer letters 57 32171858
2020 International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. Journal of inherited metabolic disease 54 32681750
1992 Macrophages in normal human bone marrow and in chronic myeloproliferative disorders: an immunohistochemical and morphometric study by a new monoclonal antibody (PG-M1) on trephine biopsies. Virchows Archiv. A, Pathological anatomy and histopathology 53 1636247
2017 t(6;11) renal cell carcinoma: a study of seven cases including two with aggressive behavior, and utility of CD68 (PG-M1) in the differential diagnosis with pure epithelioid PEComa/epithelioid angiomyolipoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 52 29052596
1993 Immunoreactivity of normal and neoplastic human tissue mast cells with macrophage-associated antibodies, with special reference to the recently developed monoclonal antibody PG-M1. Human pathology 49 8491475
2017 PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose. Neuromuscular disorders : NMD 39 28190645
2014 Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient. Neuro endocrinology letters 33 24878975
1978 PGM1 subtyping by means of acid starch gel electrophoresis. Human genetics 33 738719
1986 Further data on chromosomal assignments of pig enzyme loci LDHA, LDHB, MPI, PEPB and PGM1, using somatic cell hybrids. Animal genetics 29 2950811
1983 Some genetic implications of isoelectric focusing of human red cell phosphoglucomutase (PGM1) and serum protein group specific component (Gc): genetic diversity in the populations of Himachal Pradesh, India. Human genetics 27 6219939
1993 The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. Proceedings of the National Academy of Sciences of the United States of America 23 7902568
1981 Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the Swiss population - rare phenotypes. Human heredity 23 6455377
2021 Knockdown of PGM1 enhances anticancer effects of orlistat in gastric cancer under glucose deprivation. Cancer cell international 22 34507580
2015 News on Clinical Details and Treatment in PGM1-CDG. JIMD reports 22 26303607
1999 Mapping recombination hotspots in human phosphoglucomutase (PGM1). Human molecular genetics 22 10441333
1983 Population distribution in North and Central America of PGM1 and Gc subtypes as determined by isoelectric focusing (IEF). American journal of physical anthropology 22 6228152
2023 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 20 36709920
1982 PGM1 subtypes in Galicia (NW Spain). Human heredity 19 6212529
2020 Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily. Scientific reports 18 32221390
1979 Characterisation of the isoenzymes of phosphoglucomutase (PGM) determined by the first (PGM1) and second (PGM2) locus observed by isoelectric focusing. Human genetics 18 457117
1995 Molecular mapping of SSRs for Pgm1 and C8b in the vicinity of the rat fatty locus. Genomics 17 7665162
2021 A new D-galactose treatment monitoring index for PGM1-CDG. Journal of inherited metabolic disease 16 34043239
2019 The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood. Forensic science international. Genetics 16 31563034
2018 A Hotspot for Disease-Associated Variants of Human PGM1 Is Associated with Impaired Ligand Binding and Loop Dynamics. Structure (London, England : 1993) 16 30122451
1988 Confirmation of the assignment of MYCL to chromosome 1 in humans and its position relative to RH, UMPK, and PGM1. Genomics 16 2842250
1984 Major morphological effects of a regulatory gene: Pgm1-t in rainbow trout. Molecular biology and evolution 14 6242834
1982 Isoelectric focusing studies of human red cell PGM1 in Japanese, with special reference to the characterization of PGM17. Human heredity 13 6218067
2023 In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis. International journal of molecular sciences 12 37175952
2018 Central nervous involvement is common in PGM1-CDG. Molecular genetics and metabolism 12 30262252
1984 Human erythrocyte phosphoglucomutase: comparison of the kinetic properties of PGM1 and PGM2 isoenzymes. Biochimie 12 6240990
1980 PGM1 subtypes determined by agarose gel isoelectrofocusing. Zeitschrift fur Rechtsmedizin. Journal of legal medicine 12 6449119
1979 Studies on the frequencies of PGM1, PGM3 and Es-D types from hair roots in Japanese subjects and the determination of these types from old hair roots. Forensic science international 12 468082
2019 Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. Neuromuscular disorders : NMD 11 30737079
1982 Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, "haplotype" frequencies, and linkage disequilibrium data. American journal of human genetics 11 6462057
1981 Isoelectric focusing of PGM1 (E.C.2.7.5.1) on agarose. Application to cases of disputed parentage. American journal of clinical pathology 11 6453524
1980 Subtypes of the phosphoglucomutase-1 (PGM1) locus detectable in Polish populations by isoelectric focusing on cellogel. Human genetics 11 6451573
1977 Relative positions of chromosome 1 loci Fy, PGM1, Sc, UMPK, Rh, PGD and ENO1 in man. Canadian journal of genetics and cytology. Journal canadien de genetique et de cytologie 11 416891
2023 Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series. Therapeutic advances in rare disease 10 37181075
2018 Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene. Journal of pediatric endocrinology & metabolism : JPEM 10 29858906
1992 Macrophages (phagocytic-histiocytic reticular cells) in reactive-inflammatory lesions of the bone marrow and in myelodysplastic syndromes (MDS). An immunohistochemical and morphometric study by use of a new monoclonal antibody (PG-M1). Pathology, research and practice 10 1300612
2023 Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway. Biochemical and biophysical research communications 9 36947965
2002 Expression of the histiocytic marker PG-M1 in granuloma annulare and rheumatoid nodules of the skin. Journal of cutaneous pathology 9 12453296
1997 The rat corpulent (cp) mutation maps to the same interval on (Pgm1-Glut1) rat chromosome 5 as the fatty (fa) mutation. Obesity research 9 9112249
1989 Linkage of the Dao-1 gene for D-amino-acid oxidase to the pgm-1 gene for phosphoglucomutase-1 on the mouse chromosome 5. Idengaku zasshi 9 2576634
1988 The anonymous RFLP locus D1S2 is close to PGM1 on chromosome 1. Human heredity 9 2895061
2022 PGM1 suppresses colorectal cancer cell migration and invasion by regulating the PI3K/AKT pathway. Cancer cell international 8 35614441
2004 Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31. Human molecular genetics 8 15509594
1989 PGM-1: a transplantable murine leukemia of granulocyte-macrophage progenitor cells. Leukemia 8 2682046
1982 Isoelectric focusing of human red cell phosphoglucomutase (PGM1). Phenotype distribution in the population of Tuscany and two hereditary variants. Human genetics 8 6217145
1981 Isoelectric focusing of red cell phosphoglucomutase (E.C.: 2.7.5.1) at the PGM1 locus in a French-Canadian population. Human genetics 8 10819019
1981 A new hereditary variant of the PGM1 erythrocyte enzyme system determined by isoelectric focusing. Human genetics 8 6459984
1975 Chromosome no. 1 of man and chimpanzee: identity of gene mapping for three loci: PPH, PGM1, and Pep-C. Humangenetik 8 170193
2023 Functional identification of PGM1 in the regulating development and depositing of inosine monophosphate specific for myoblasts. Frontiers in veterinary science 7 38164393
1998 Regional localisations of VIM, HSD3b, ACTA1 and PGM1 in pigs. Animal genetics 7 9682444
1983 Distribution of three red-cell enzyme polymorphisms (ACP, PGM1 and AK) in gypsies from Slovakia (Czechoslovakia). Annals of human biology 7 6227274
1979 Red cell PGM1 (phosphoglucomutase) phenotyping by isoelectric focussing and starch gel electrophoresis in cases of disputed paternity in the United Kingdom. An evaluation of the results obtained in 95 cases. Forensic science international 7 447151
1976 On the geographical variability of the red cell PGM1 and acid phosphatase gene frequencies. Human heredity 7 955634
1996 Chromosome localization of the loci for PEPA, PEPB, PEPS, IDH1, GSR, MPI, PGM1, NP, SOD1, and ME1 in the common shrew (Sorex araneus). Mammalian genome : official journal of the International Mammalian Genome Society 6 8661695
1986 Phosphoglucomutase-1 subtypes: polymorphic occurrence of PGM1*7+ and geographical variation in Japan. Human heredity 6 2944815
1980 Substrate affinity in PGM1, PGM2, and PGM2 isozymes. Human genetics 6 6450158
2024 Coagulation abnormalities and vascular complications are common in PGM1-CDG. Molecular genetics and metabolism 5 38968673
2023 Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG. Journal of pediatric endocrinology & metabolism : JPEM 5 37042760
1999 Identification and characterisation of polymorphisms in human phosphoglucomutase (PGM1). Annals of human genetics 5 10738524
1985 Gene localisation of the PGM1 enzyme system and the Duffy blood groups on chromosome No. 1 by means of a new fragile site at 1p31. Human genetics 5 3159642
1984 6PGD and PGM1 polymorphisms in south Sardinia. Human heredity 5 6237043
1982 Isoelectric focusing studies on the PGM1 subtypes in the northern Japanese population. Zeitschrift fur Rechtsmedizin. Journal of legal medicine 5 6210999
1991 [Genetic studies of phosphoglucomutase-1 (PGM1) subtypes: population aspects]. Genetika 4 1831778
1986 Red cell phosphoglucomutase (PGM1) subtypes in Egyptians. Forensic science international 4 2941351
1985 Phosphoglucomutase (PGM1) subtypes in a Finnish population determined by isoelectric focusing in agarose gel. Human heredity 4 3157638
1997 Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line. Annals of human genetics 3 9177117
1990 Evaluation of a nonequilibrium isoelectric focusing (IEF) method for the simultaneous typing of esterase D (EsD), red cell acid phosphatase (AcP1), phosphoglucomutase (PGM1), adenylate kinase (AK), and adenosine deaminase (ADA). Journal of forensic sciences 3 2155993
1986 PGM1 subtype polymorphism in 14 endogamous Dravidian-speaking populations of South India. American journal of physical anthropology 3 2946235
1981 Subtyping of human red cell phosphoglucomutase locus 1 (PGM1) polymorphism: a third PGM1(1) allele common among Twa Pygmies from North Rwanda. American journal of human genetics 3 6457529
1980 [Frequencies of red cell enzyme polymorphisms acP, ADA, AK, EsD, 6-PGD, and PGM1 determined by parallel investigations of Turks and Germans living in the Lübeck area (author's transl)]. Zeitschrift fur Rechtsmedizin. Journal of legal medicine 3 6447424
1979 Differential function of the phosphoglucomutase isozymes PGM1 and PGM2. Human genetics 3 468263
2025 Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13. Cells 2 40358162
2025 PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model. bioRxiv : the preprint server for biology 2 40631269
2001 Identification of base substitutions in ten types of rare variants of phosphoglucomutase-1 (PGM1) encountered in Japanese. Human biology 2 11758695
1986 A new partially deficient variant in the phosphoglucomutase 1 system, PGM1*W31. Human genetics 2 2935481
1983 PGM1 and Gc subtype gene frequencies in a California Hispanic population. American journal of human genetics 2 6192713
1981 Red cell phosphoglucomutase (PGM)-deficiency: hereditary defect of the PGM1-locus. European journal of pediatrics 2 6452267
1981 Geographic and ethnic distribution of genetic markers in India. 2. Inv, Gm, Gc, ADA, AK, ap, PGM1, 6-PGD and EsD polymorphisms. Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur 2 7034636
2025 Degradation of IRF6 by TRIM59 in tumor cells triggers PGM1-mediated glycolysis to regulate cell proliferation in neuroblastoma. Cell death & disease 1 40796729
2024 Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant. Biochemistry 1 38743592
2024 Sec13 promotes glycolysis by inhibiting Ubqln1 mediated Pgm1 ubiquitination in ALI. Biochimica et biophysica acta. Molecular basis of disease 1 39159700
2022 Balanced Polymorphism at the Pgm-1 Locus of the Pompeii Worm Alvinella pompejana and Its Variant Adaptability Is Only Governed by Two QE Mutations at Linked Sites. Genes 1 35205251
2015 Molecular characterization, expression patterns, and promoter activity analysis of PGM1 in pigs. Genetics and molecular research : GMR 1 25867431
1992 Distribution of PGM1 subtypes in 12 populations of China. Gene geography : a computerized bulletin on human gene frequencies 1 1299311
1991 ESD, GLO1, PGD, PGM1 and PGM2 gene frequencies in the Salerno Province (Italy). Gene geography : a computerized bulletin on human gene frequencies 1 1840292
1991 Genetic polymorphism at the phosphoglucomutase 1 (PGM1) locus in Cosenza Province (Calabria--southern Italy). Gene geography : a computerized bulletin on human gene frequencies 1 1840293
1990 Demonstration of incompatible mother-child pairs in PGM1 and Duffy systems in a three-generation family from the upper Silesia (Poland). Forensic science international 1 2138584
1985 PGM1 null allele detected in a Caucasian mother-son pair. Human heredity 1 3158586
1984 Population genetic studies of PI, Tf, Gc and PGM1 subtypes among various caste groups in North India. Acta anthropogenetica 1 6242530
2026 PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes. Journal of translational medicine 0 41723528
1989 [Distributions and gene frequencies of PGM1 subtype, EsD, GLO1, AK, ADAand 6-PGD in 20 races of China]. Yi chuan xue bao = Acta genetica Sinica 0 2534281

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