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Phosphorylase, glycogen, muscle

myophosphorylase, PYGM, muscle glycogen phosphorylase
This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] (from NCBI)
Top mentioned proteins: ACID, HAD, CAN, Multiple Endocrine Neoplasia, AGE
Papers on myophosphorylase
4(5)-Aryl-2-C-glucopyranosyl-imidazoles as New Nanomolar Glucose Analogue Inhibitors of Glycogen Phosphorylase.
Somsák et al., Debrecen, Hungary. In Acs Med Chem Lett, Jan 2016
C-(β-d-Glucopyranosyl) isoxazole, pyrazole, thiazole, and imidazole type compounds were synthesized, and the latter showed the strongest inhibition against rabbit muscle glycogen phosphorylase b.
Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.
Kyriakides et al., Nicosia, Cyprus. In Muscle Nerve, Nov 2015
RESULTS: We found that a novel c.1151C>T transition in exon 10 of the myophosphorylase gene (PYGM) is associated with minimally symptomatic McArdle disease.
[Anesthesia in a Patient with McArdle Disease].
Fujimoto et al., In Masui, Nov 2015
Patients with McArdle disease lack skeletal muscle specific glycogen phosphorylase, and myophosphorylase.
Genes and exercise intolerance: Insights from McArdle disease.
Lucia et al., Laizhou, China. In Physiol Genomics, Nov 2015
UNASSIGNED: McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal-muscle specific isoform of glycogen phosphorylase, 'myophosphorylase', which is encoded by the PYGM gene.
Pathological characteristics of glycogen storage disease III in skeletal muscle.
Prayson et al., Cleveland, United States. In J Clin Neurosci, Oct 2015
Among those that result in vacuolar myopathic changes, glycogen storage disease III or debrancher enzyme deficiency, an autosomal recessive condition, is less commonly encountered than acid maltase (Type II) and myophosphorylase (Type V) deficiencies.
C-(2-Deoxy-d-arabino-hex-1-enopyranosyl)-oxadiazoles: synthesis of possible isomers and their evaluation as glycogen phosphorylase inhibitors.
Somsák et al., Debrecen, Hungary. In Carbohydr Res, Sep 2015
Test compounds were obtained by Zemplén debenzoylation, however, none of them showed significant inhibition of rabbit muscle glycogen phosphorylase b.
McArdle disease: 2 case reports.
San Millán Tejado et al., León, Spain. In Reumatol Clin, Aug 2015
There was null activity of myophosphorylase in muscle biopsy of both cases, so a diagnosis of McArdle disease was made.
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Pinós et al., Badalona, Spain. In Hum Mutat, Jul 2015
The PYGM gene codifies myophosphoylase and to date 147 pathogenic mutations and 39 polymorphisms have been reported.
McArdle disease: a unique study model in sports medicine.
Lucia et al., Sevilla, Spain. In Sports Med, 2014
This disorder is caused by inherited deficiency of myophosphorylase, the enzyme isoform that initiates glycogen breakdown in skeletal muscles.
Statin-associated myopathy: from genetic predisposition to clinical management.
Ceska et al., Praha, Czech Republic. In Physiol Res, 2013
PYGM, GAA, CPT2) and several others have been proposed as candidates which can predispose to SAM.
Advances in exercise, fitness, and performance genomics in 2012.
Bouchard et al., Québec, Canada. In Med Sci Sports Exerc, 2013
A new PYGM knock-in mouse model will provide opportunities to investigate the exercise intolerance and very low activity level of people with McArdle disease.
McArdle disease: a novel mutation in Jewish families from the Caucasus region.
Anikster et al., Petah Tikva, Israel. In Mol Genet Metab, 2012
a novel mutation, in the PYGM gene c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
Andreu et al., Barcelona, Spain. In Brain, 2012
this is the first successful attempt to develop a genetically modified animal model of McArdle disease.
Rac1 protein regulates glycogen phosphorylase activation and controls interleukin (IL)-2-dependent T cell proliferation.
Zugaza et al., Leioa, Spain. In J Biol Chem, 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.
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
Navarro et al., Vigo, Spain. In Neuromuscul Disord, 2011
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.
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
Tarnopolsky et al., Hamilton, Canada. In Mol Genet Metab, 2011
The current data add to the list of pathogenic mutations in the PYGM gene associated with McArdle disease
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
Lewis et al., Salt Lake City, United States. In Nat Genet, 1994
We performed linkage analysis in 31 multiplex BBS families and report significant linkage with two markers on chromosome 11q, PYGM and AFM164zf12 (D11S913).
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
DiMauro et al., New York City, United States. In N Engl J Med, 1993
BACKGROUND AND METHODS: Myophosphorylase deficiency (McArdle's disease) is one of the most common causes of exercise intolerance, muscle cramps, and recurrent myoglobinuria.
High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.
Kan et al., In Science, 1984
The skeletal muscle glycogen phosphorylase gene was then mapped to a portion of chromosome 11 by spot blotting normal and translocated chromosomes.
Histochemical phosphorylase activity in regenerating muscle fibers from myophosphorylase-deficient patients.
Chauvin et al., In Science, 1972
Fresh frozen sections of mature skeletal muscle fibers from patients with genetically determined "absence" of skeletal muscle phosphorylase (McArdle's disease) have no histochemical phosphorylase activity.
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