| 1 | ARHGEF6, PRKCQ, PYGM, RAC1
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| Guanine nucleotide exchange factor αPIX leads to activation of the Rac 1 GTPase/glycogen phosphorylase pathway in interleukin (IL)-2-stimulated T cells.
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| Llavero F, Urzelai B, Osinalde N, Gálvez P, Lacerda HM, Parada LA, Zugaza JL.
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| J Biol Chem 290(14):9171-82. doi: 10.1074/jbc.M114.608414.
2015
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| 2 | ACTN3, PYGM
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| Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
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| Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN.
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| Hum Mol Genet 19(7):1335-46. Epub 2010 Jan 20.
2010
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| 3 | PYGM
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| Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.
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| 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.
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| PLoS One 5(10). pii: e13164.
2010
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| 4 | PYGM
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| Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
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| Vissing J, Duno M, Schwartz M, Haller RG.
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| Brain 132(Pt 6):1545-52. Epub 2009 May 11.
2009
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| 5 | PYGM
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| Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
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| García-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.
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| J Med Genet 46(3):198-202.
2009
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| 6 | PYGM
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| [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients]
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| Delmont E, Sacconi S, Berge-Lefranc JL, Aquaron R, Butori C, Desnuelle C.
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| Rev Neurol (Paris) 164(11):912-6. Epub 2008 Jun 3. French.
2008
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| 7 | PYGM
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| The crystal structure of human muscle glycogen phosphorylase a with bound glucose and AMP: an intermediate conformation with T-state and R-state features.
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| Lukacs CM, Oikonomakos NG, Crowther RL, Hong LN, Kammlott RU, Levin W, Li S, Liu CM, Lucas-McGady D, Pietranico S, Reik L.
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| Proteins 63(4):1123-6. No abstract available.
2006
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| 8 | PYGM
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| Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
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| Paradas C, Fernandez-Cadenas I, Gallardo E, Lligé D, Arenas J, Illa I, Andreu AL.
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| Neurosci Lett 391(1-2):28-31. Epub 2005 Sep 9.
2005
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| 9 | PYGM
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| Molecular analysis of myophosphorylase deficiency in dutch patients with McArdle's disease.
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| Martin MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blazquez A, Andreu AL, Arenas J.
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| Ann Hum Genet 68(Pt 1):17-22. 2004
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| 10 | PYGM
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| A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
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| Fernandez R, Navarro C, Andreu AL, Bruno C, Shanske S, Gamez J, Teijeira S, Hernandez I, Teijeiro A, Fernandez JM, Musumeci O, DiMauro S.
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| Arch Neurol 57(2):217-9. 2000
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| 11 | PYGM
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| A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
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| Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S.
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| Neuromuscul Disord 9(3):171-3. 1999
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| 12 | PYGM
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| McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.
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| Rubio JC, Martin MA, Garcia A, Campos Y, Cabello A, Culebras JM, Arenas J.
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| Neuromuscul Disord 9(3):174-5. 1999
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| 13 | PYGM
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| A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
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| Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S.
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| Muscle Nerve 22(8):1136-8. 1999
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| 14 | PYGM
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| Molecular diagnosis of McArdle disease : revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
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| Kubisch C, Wicklein EM, Jentsch TJ.
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| Hum Mutat 12(1):27-32. 1998
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| 15 | PYGM
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| Molecular genetic analysis of McArdle's disease in Spanish patients.
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| Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos MA, Tamburino L, Schwartz S, DiMauro S.
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| Neurology 51(1):260-2. 1998
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| 16 | PYGM
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| Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated wtih variable phenotypes in a Druze family with McArdle disease.
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| Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd KK, Bonne-Tamir B.
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| J Med Genet 34(5):391-4. 1997
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| 17 | CAPN1, FAU, KAT5, MAP3K11, MEN1, PABYL, PLCB3, PYGM, RELA, SEA, SF1, SIPA1
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| A transcript map encompassing the multiple endocrine neoplasia type-1 (MEN1) locus on chromosome 11q13.
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| Sawicki M, Arnold E, Ebrahimi S, Duell T, Jin S, Wood T, Chakrabarti R, Peters J, Wan Y, Samara G, Weier HU, Udar N, Passaro E Jr, Srivatsan ES.
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| Genomics 42(3):405-12. 1997
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| 18 | AMCD1, IBM2, MHS1, PYGM
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| The preliminary transcript map of a human skeletal muscle.
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| Pallavicini A, Zimbello R, Tiso N, Muraro T, Rampoldi L, Bortoluzzi S, Valle G, Lanfranchi G, Danieli GA.
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| Hum Mol Genet 6(9):1445-50. 1997
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| 19 | RASGRP2, CDC42BPG, PYGM, MEN1, SF1
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| The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13.
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| Kedra D, Seroussi E, Fransson I, Trifunovic J, Clark M, Lagercrantz J, Blennow E, Mehlin H, Dumanski J.
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| Hum Genet 100(5-6):611-9. 1997
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| 20 | PYGM, GSD5B, GSD6A, GSD6B, PHKA2
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| Genetic deficiencies of the glycogen phosphorylase system.
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| Hendrickx J, Willems PJ.
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| Hum Genet 97(5):551-6. 1996
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| 21 | PYGM
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| Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
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| Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S.
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| Hum Mutat 6(3):276-7. 1995
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| 22 | PYGM
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| McArdle's disease-muscle glycogen phosphorylase deficiency.
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| Bartram C, Edwards RH, Beynon RJ.
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| Biochim Biophys Acta 1272(1):1-13. 1995
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| 23 | PYGM
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| Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.
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| Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y.
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| Clin Chim Acta 236(1):81-6. 1995
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| 24 | PYGM
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| Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
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| Tsujino S, Shanske S, Nonaka I, Eto Y, Mendell JR, Fenichel GM, DiMauro S.
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| Am J Hum Genet 54(1):44-52. 1994
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| 25 | PYGM
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| Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
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| Tsujino S, Shanske S, Goto Y, Nonaka I, DiMauro S.
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| Hum Mol Genet 3(6):1005-6. 1994
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| 26 | PYGM
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| An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
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| Tsujino S, Rubin LA, Shanske S, DiMauro S.
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| Hum Mutat 4(1):73-5. 1994
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| 27 | PYGM
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| McArdle's disease : a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene.
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| Bartram C, Edwards RH, Clague J, Beynon RJ.
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| Biochim Biophys Acta 1226(3):341-3. 1994
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| 28 | PYGM
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| Extension of molecular genetic study of myophosphorylase deficiency (McArdle disease) : a new missense mutation and diagnosis in 23 clinically suspected patients using DNA isolated from leukocytes. (abstr)
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| Tsujino S, et al.
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| Am J Hum Genet 55 : A246. 1994
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| 29 | PYGM
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| Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
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| Tsujino S, Shanske S, DiMauro S.
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| N Engl J Med 329(4):241-5. 1993
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| 30 | PYGM
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| McArdle's disease : a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
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| Bartram C, Edwards RH, Clague J, Beynon RJ.
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| Hum Mol Genet 2(8):1291-3. 1993
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| 31 | PYGM
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| A pulsed-field gel electrophoresis (PFGE) map of twelve loci on chromosome 11q11-q13.
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| Petty EM, Arnold A, Marx SJ, Bale AE.
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| Genomics 15(2):423-5. 1993
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| 32 | PYGM
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| A minisatellite and a microsatellite polymorphism within 1.5 kb at the human muscle glycogen phosphorylase (PYGM) locus can be amplified by PCR and have combined informativeness of PIC 0.95.
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| Iwasaki H, Stewart PW, Dilley WG, Holt MS, Steinbrueck TD, Wells SA Jr, Donis-Keller H.
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| Genomics 13(1):7-15. 1992
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| 33 | PYGM
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| Isolation and mapping of a polymorphic DNA sequence for human muscle glycogen phosphorylase (pMCMP1) on chromosome 11 [PYGM].
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| Carlson M, Nakamura Y, Gillilan S, O'Connell P, Lebo R, Gorin F, Lathrop GM, Lalouel JM, White R.
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| Nucleic Acids Res 16(21):10403. 1988
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| 34 | PYGM
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| Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.
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| Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus JC.
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| J Clin Invest 79(1):275-81. 1987
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| 35 | ABCB5, PYGM, PYGB, PYGBL, GSD6A
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| The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver.
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| Van der Bliek AM, Baas F, Ten Houte de Lange T, Kooiman PM, Van der Velde-Koerts T, Borst P.
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| EMBO J 6(11):3325-31. 1987
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| 36 | PYGM
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| High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.
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| Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD, Kan YW.
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| Science 225(4657):57-9. 1984
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| 37 | PYGM
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| Late-onset type of skeletal-muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects.
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| Engel WK, et al.
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| N Engl J Med 268 : 135-137. 1963
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