| Whole-exome sequencing detects PYGM variants in two adults with McArdle disease. | Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Thomas-Wilson A, Dharmadhikari AV, Heymann JJ, Jobanputra V, DiMauro S, Hirano M, Naini AB, Ganapathi M., Free PMC Article | 06/18/2022 |
| Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease. | Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease.
Migocka-Patrzałek M, Elias M., Free PMC Article | 10/23/2021 |
| A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. | A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J. | 02/20/2021 |
| PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.
Carvalho AAS, Christofolini DM, Perez MM, Alves BCA, Rodart I, Figueiredo FWS, Turke KC, Feder D, Junior MCF, Nucci AM, Fonseca FLA., Free PMC Article | 10/10/2020 |
| The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology. | The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.
Migocka-Patrzałek M, Lewicka A, Elias M, Daczewska M. | 10/10/2020 |
| Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. | Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma.
Jin Y, Yang Y., Free PMC Article | 08/22/2020 |
| These findings explain the lack of PYGM genotype-phenotype correlation and have important implications for the design of molecular-based therapeutic approaches. | Missense mutations have unexpected consequences: The McArdle disease paradigm.
García-Consuegra I, Asensio-Peña S, Ballester-Lopez A, Francisco-Velilla R, Pinos T, Pintos-Morell G, Coll-Cantí J, González-Quintana A, Andreu AL, Arenas J, Lucia A, Nogales-Gadea G, Martín MA. | 08/17/2019 |
| 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. | The glial phosphorylase of glycogen isoform is reduced in the dorsolateral prefrontal cortex in chronic schizophrenia.
Pinacho R, Vila E, Prades R, Tarragó T, Castro E, Ferrer I, Ramos B. | 01/6/2018 |
| 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 | Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.
Chéraud C, Froissart R, Lannes B, Echaniz-Laguna A. | 12/16/2017 |
| 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 | Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Garcia-Consuegra I, Blázquez A, Rubio JC, Arenas J, Ballester-Lopez A, González-Quintana A, Andreu AL, Pinós T, Coll-Cantí J, Lucia A, Nogales-Gadea G, Martín MA. | 09/16/2017 |
| Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome. | Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
Maltese PE, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina SY, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso L. | 03/4/2017 |
| update of the reported mutations and polymorphisms in the PYGM gene [review] | McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martín MA, Lucia A, de Luna N, Pinós T. | 05/14/2016 |
| 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 | PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, Andreu AL, Pinós T. | 08/1/2015 |
| 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 | Guanine nucleotide exchange factor αPIX leads to activation of the Rac 1 GTPase/glycogen phosphorylase pathway in interleukin (IL)-2-stimulated T cells.
Llavero F, Urzelai B, Osinalde N, Gálvez P, Lacerda HM, Parada LA, Zugaza JL., Free PMC Article | 06/20/2015 |
| 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. | Clinical and molecular characterization of McArdle's disease in Brazilian patients.
Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM, Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M. | 04/19/2014 |
| a novel mutation, in the PYGM gene c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region | McArdle disease: a novel mutation in Jewish families from the Caucasus region.
Haimi Cohen Y, Shalva N, Markus-Eidlitz T, Sadeh M, Dabby R, Weintraub Y, Pode-Shakked B, Zeharia A, Anikster Y. | 10/20/2012 |
| 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. | Rac1 protein regulates glycogen phosphorylase activation and controls interleukin (IL)-2-dependent T cell proliferation.
Arrizabalaga O, Lacerda HM, Zubiaga AM, Zugaza JL., Free PMC Article | 06/9/2012 |
| 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. | Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, Ortolano S, Louis S, Laforet P, Navarro C. | 03/24/2012 |
| The current data add to the list of pathogenic mutations in the PYGM gene associated with McArdle disease | Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
Wu Y, Weber JL, Vladutiu GD, Tarnopolsky MA. | 03/17/2012 |
| This study demonistrated that PYGM mutation in McArdle disease. | Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).
Miteff F, Potter HC, Allen J, Teoh H, Roxburgh R, Hutchinson DO. | 11/26/2011 |
| 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 | Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.
Nogales-Gadea G, Mormeneo E, García-Consuegra I, Rubio JC, Orozco A, Arenas J, Martín MA, Lucia A, Gómez-Foix AM, Martí R, Andreu AL., Free PMC Article | 03/12/2011 |
| 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 | Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
Vissing J, Duno M, Schwartz M, Haller RG. | 01/21/2010 |
| Nine novel mutations of PYGM were identified in patients with McArdle disease. | High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Duno M, Quinlivan R, Vissing J, Schwartz M. | 01/21/2010 |
| Different PYGM mutations and mutant molecular mechanisms are described in patients with McArdle disease. | Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
García-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. | 01/21/2010 |
| Defect in glycogen breakdown is due to mutations of the gene for myophosphorylase in McArdle disease (gycogenosis type V). | [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
Delmont E, Sacconi S, Berge-Lefranc JL, Aquaron R, Butori C, Desnuelle C. | 01/21/2010 |