PYGM Antibody

1. Results show that PYGM and RAC1 are altered in the dorsolateral prefrontal cortex in chronic schizophrenia and are controlled by NMDA signaling in the rodent cortex and cortical astrocytes suggesting an altered NMDA-dependent glycogenolysis in astrocytes in schizophrenia. PMID: 27156240
2. This report expands the phenotype and genotype of McArdle disease and suggests that PYGM mutations should be looked for in patients with very late-onset myopathy with no previous history of exercise intolerance PMID: 28120463
3. Because the NMD mechanism does not seem to operate in nonspecific cells, PBMCs were more suitable than muscle biopsies for detecting the pathogenicity of some PYGM mutations, notably the silent mutation whose effect in the splicing of intron 6 was unnoticed in previous muscle transcriptomic studies PMID: 26913921
4. Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome. PMID: 27525900
5. update of the reported mutations and polymorphisms in the PYGM gene [review] PMID: 25914343
6. study found that T lymphocytes expressed myophosphorylase in healthy donors, but expression was significantly lower in McArdle patients (p<0.001); PYGM mRNA levels were also lower in white blood cells from McArdle patients PMID: 25240406
7. biological significance of this PKCtheta;/alphaPIX/Rac 1 GTPase/PYGM signaling pathway seems to be the control of different cellular responses such as migration and proliferation PMID: 25694429
8. 5 different PYGM mutations were found in 8 Brazilian families: 4 previously described (p.R50X, p.T692kfs30, p.K609K, and p.G455R), and one, pI513V, a novel heterozygous mutation. PMID: 23653251
9. a novel mutation, in the PYGM gene c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region PMID: 22608882
10. a new role for Rac1 in cell signaling, showing that this GTPase triggers T-cell proliferation upon IL-2 stimulation by associating with PYGM and modulating its enzymatic activity. PMID: 22337875
11. No genotype-phenotype correlation is evident and that no gender effect is related to the phenotype of McArdle's disease (PYGM gene) in a cohort of 123 European McArdle's disease patients. PMID: 21802952
12. The current data add to the list of pathogenic mutations in the PYGM gene associated with McArdle disease PMID: 21880526
13. This study demonistrated that PYGM mutation in McArdle disease. PMID: 21658951
14. indicate that in both patients' and controls' cell cultures, unlike in skeletal muscle tissue, most of the protein and GP activities result from the expression of brain GP and liver GP genes PMID: 20957198
15. McArdle disease may be caused by a R269X nonsense mutation in this gene. PMID: 11749054
16. two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease; both were compound heterozygous, with the common mutation at codon 49 (R49X) on the other allele PMID: 12031624
17. molecular genetic study of McArdle's disease in Yemenite-Jewish patients expands the already remarkable genetic heterogeneity of McArdle's disease and suggests the existence of ethnic or private mutations within this group. PMID: 12398832
18. In Mcardle's disease (deficiency of this enzyme) efferent muscle sympathetic nerve activity (MSNA) is attenuated. PMID: 12640006
19. the muscle subtype of glycogen phosphorylase mRNA level is up-regulated in preeclampsia in placenta PMID: 14662163
20. A new autosomal dominant gene mutation in McArdle disease. PMID: 15979037
21. We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). PMID: 16154688
22. muscle isoform of human glycogen phosphorylase has structural differences that are consistent with the long-known kinetic differences between the liver and muscle enzymes PMID: 16523484
23. 19 novel mutations within the PYGM gene are associated with McArdle disease. PMID: 16786513
24. findings further demonstrate molecular heterogeneity of myophosphorylase deficiency, absence of genotype-phenotype correlation and expand the already crowded map of mutations within the myophosphorylase gene PMID: 17324573
25. The study further extends the genetic heterogeneity of myophosphorylase gene mutations showing no mutational hotspot and no genotype-phenotype correlation. PMID: 17404776
26. This unique case of a false negative myophosphorylase histochemical reaction is apparently related to sepsis. PMID: 17719780
27. Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM. [REVIEW] PMID: 17915571
28. To investigate if nonsense mediated decay affects the levels of transcripts containing PYGM mutations, 28 Spanish patients with McArdle disease, harboring 17 different mutations with premature termination codons in 77% of their alleles, were studied. PMID: 17994553
29. Defect in glycogen breakdown is due to mutations of the gene for myophosphorylase in McArdle disease (gycogenosis type V). PMID: 18808785
30. Different PYGM mutations and mutant molecular mechanisms are described in patients with McArdle disease. PMID: 19251976
31. study of two patients with atypical McArdle disease who carried common mutations on one allele (R50X and G205S), and novel splice mutations in introns 3 [IVS3-26A>G (c.425-26A>G)] and 5 [IVS5-601G>A (c.856-601G>A)] on the other allele PMID: 19433441
32. Nine novel mutations of PYGM were identified in patients with McArdle disease. PMID: 19472443

Show More

Hide All

HGNC: 9726

OMIM: 232600

KEGG: hsa:5837

STRING: 9606.ENSP00000164139

UniGene: Hs.154084