Citations for
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.
J Biol Chem 290(14):9171-82. doi: 10.1074/jbc.M114.608414. 2015
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN.
Hum Mol Genet 19(7):1335-46. Epub 2010 Jan 20. 2010
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.
PLoS One 5(10). pii: e13164. 2010
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
Vissing J, Duno M, Schwartz M, Haller RG.
Brain 132(Pt 6):1545-52. Epub 2009 May 11. 2009
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.
J Med Genet 46(3):198-202. 2009
[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.
Rev Neurol (Paris) 164(11):912-6. Epub 2008 Jun 3. French. 2008
The crystal structure of human muscle glycogen phosphorylase a with bound glucose and AMP: an intermediate conformation with T-state and R-state features.
Lukacs CM, Oikonomakos NG, Crowther RL, Hong LN, Kammlott RU, Levin W, Li S, Liu CM, Lucas-McGady D, Pietranico S, Reik L.
Proteins 63(4):1123-6. No abstract available. 2006
Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
Paradas C, Fernandez-Cadenas I, Gallardo E, Lligé D, Arenas J, Illa I, Andreu AL.
Neurosci Lett 391(1-2):28-31. Epub 2005 Sep 9. 2005
Molecular analysis of myophosphorylase deficiency in dutch patients with McArdle's disease.
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.
Ann Hum Genet 68(Pt 1):17-22. 2004
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
Fernandez R, Navarro C, Andreu AL, Bruno C, Shanske S, Gamez J, Teijeira S, Hernandez I, Teijeiro A, Fernandez JM, Musumeci O, DiMauro S.
Arch Neurol 57(2):217-9. 2000
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S.
Neuromuscul Disord 9(3):171-3. 1999
McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.
Rubio JC, Martin MA, Garcia A, Campos Y, Cabello A, Culebras JM, Arenas J.
Neuromuscul Disord 9(3):174-5. 1999
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S.
Muscle Nerve 22(8):1136-8. 1999
Molecular diagnosis of McArdle disease : revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
Kubisch C, Wicklein EM, Jentsch TJ.
Hum Mutat 12(1):27-32. 1998
Molecular genetic analysis of McArdle's disease in Spanish patients.
Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos MA, Tamburino L, Schwartz S, DiMauro S.
Neurology 51(1):260-2. 1998
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated wtih variable phenotypes in a Druze family with McArdle disease.
Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd KK, Bonne-Tamir B.
J Med Genet 34(5):391-4. 1997
A transcript map encompassing the multiple endocrine neoplasia type-1 (MEN1) locus on chromosome 11q13.
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.
Genomics 42(3):405-12. 1997
The preliminary transcript map of a human skeletal muscle.
Pallavicini A, Zimbello R, Tiso N, Muraro T, Rampoldi L, Bortoluzzi S, Valle G, Lanfranchi G, Danieli GA.
Hum Mol Genet 6(9):1445-50. 1997
The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13.
Kedra D, Seroussi E, Fransson I, Trifunovic J, Clark M, Lagercrantz J, Blennow E, Mehlin H, Dumanski J.
Hum Genet 100(5-6):611-9. 1997
Genetic deficiencies of the glycogen phosphorylase system.
Hendrickx J, Willems PJ.
Hum Genet 97(5):551-6. 1996
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S.
Hum Mutat 6(3):276-7. 1995
McArdle's disease-muscle glycogen phosphorylase deficiency.
Bartram C, Edwards RH, Beynon RJ.
Biochim Biophys Acta 1272(1):1-13. 1995
Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.
Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y.
Clin Chim Acta 236(1):81-6. 1995
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
Tsujino S, Shanske S, Nonaka I, Eto Y, Mendell JR, Fenichel GM, DiMauro S.
Am J Hum Genet 54(1):44-52. 1994
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
Tsujino S, Shanske S, Goto Y, Nonaka I, DiMauro S.
Hum Mol Genet 3(6):1005-6. 1994
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
Tsujino S, Rubin LA, Shanske S, DiMauro S.
Hum Mutat 4(1):73-5. 1994
McArdle's disease : a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene.
Bartram C, Edwards RH, Clague J, Beynon RJ.
Biochim Biophys Acta 1226(3):341-3. 1994
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)
Tsujino S, et al.
Am J Hum Genet 55 : A246. 1994
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
Tsujino S, Shanske S, DiMauro S.
N Engl J Med 329(4):241-5. 1993
McArdle's disease : a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
Bartram C, Edwards RH, Clague J, Beynon RJ.
Hum Mol Genet 2(8):1291-3. 1993
A pulsed-field gel electrophoresis (PFGE) map of twelve loci on chromosome 11q11-q13.
Petty EM, Arnold A, Marx SJ, Bale AE.
Genomics 15(2):423-5. 1993
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.
Iwasaki H, Stewart PW, Dilley WG, Holt MS, Steinbrueck TD, Wells SA Jr, Donis-Keller H.
Genomics 13(1):7-15. 1992
Isolation and mapping of a polymorphic DNA sequence for human muscle glycogen phosphorylase (pMCMP1) on chromosome 11 [PYGM].
Carlson M, Nakamura Y, Gillilan S, O'Connell P, Lebo R, Gorin F, Lathrop GM, Lalouel JM, White R.
Nucleic Acids Res 16(21):10403. 1988
Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.
Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus JC.
J Clin Invest 79(1):275-81. 1987
The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver.
Van der Bliek AM, Baas F, Ten Houte de Lange T, Kooiman PM, Van der Velde-Koerts T, Borst P.
EMBO J 6(11):3325-31. 1987
High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.
Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD, Kan YW.
Science 225(4657):57-9. 1984
Late-onset type of skeletal-muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects.
Engel WK, et al.
N Engl J Med 268 : 135-137. 1963