|1.||Kilimann, Manfred W: 3 articles (06/2005 - 07/2003)|
|2.||Burwinkel, Barbara: 3 articles (06/2005 - 07/2003)|
|3.||Shin, Yoon S: 2 articles (06/2015 - 07/2003)|
|4.||Akman, Hasan O: 2 articles (02/2010 - 10/2007)|
|5.||Dimauro, Salvatore: 2 articles (02/2010 - 10/2007)|
|6.||Scott, John W: 2 articles (10/2007 - 06/2005)|
|7.||Begum, Jaida: 1 article (09/2015)|
|8.||Hayes, Joseph M: 1 article (09/2015)|
|9.||Oikonomakos, Nikos G: 1 article (09/2015)|
|10.||Moffatt, Colin: 1 article (09/2015)|
|1.||Glycogen Storage Disease (Glycogenosis)
12/01/1982 - "Phosphorylase-b-kinase: glycogen storage disease (type 9b)--a family study."
06/01/2015 - "Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. "
05/01/2014 - "Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. "
03/01/2014 - "Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. "
01/24/2012 - "To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD). "
08/01/1994 - "A 5-year-old boy with short stature, hepatomegaly and motor weakness due to hepatic phosphorylase kinase deficiency is described. "
10/01/1990 - "Phosphorylase b kinase deficiency affecting muscle has been observed infrequently in children with weakness and hepatomegaly, and in 2 adults with cramps on exertion. "
11/01/1978 - "Four boys, aged 2 years 5 months to 3 years 7 months, with large hepatomegaly due to phosphorylase-kinase deficiency glycogenosis, were given a trial of sodium dextrothyroxine (D-T4) at a mean dose of 0.165 mg/kg/day for an average period of 6 months. "
12/01/2003 - "Phosphorylase kinase-deficient liver glycogenosis manifests in infancy with hepatomegaly, growth retardation, and elevated plasma aminotransferases and lipids. "
|3.||Muscular Diseases (Myopathy)
02/15/2005 - "Until today, only a few cases of myopathy associated with muscle PhK deficiency caused by a mutation in the gene encoding the alpha subunit of phosphorylase kinase (PHKA1) have been reported. "
02/15/2005 - "Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene."
08/28/1998 - "In a 28-year-old man with myopathy and phosphorylase kinase (PhK) deficiency, we found a G-to-C substitution at the 5' end of an intron in the muscle-specific alpha-subunit gene. "
08/28/1998 - "A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy."
09/01/1988 - "In the course of work in which the phosphorylase kinase (PhK)-deficient mouse was used as a model of a defined inherited myopathy, we measured the PhK activity in regenerated autografts of normal whole extensor digitorum longus (EDL) muscles. "
08/30/2014 - "KIAA1199 interacts with glycogen phosphorylase kinase β-subunit (PHKB) to promote glycogen breakdown and cancer cell survival."
09/01/2015 - "Phosphorylase kinase (PhK) has been linked with a number of conditions such as glycogen storage diseases, psoriasis, type 2 diabetes and more recently, cancer (Camus et al., 2012 ). "
01/01/2014 - "Among them: the Meprin 1α with a pro-angiogenic activity, the Probable G-protein coupled receptor 162, belonging to the GPCRs family and known to be associated with several key functions in cancer, the Osteopontin that strongly correlates to tumour stages and invasiveness, the Phosphorylase b kinase regulatory subunit alpha and the SeCreted and TransMembrane protein 1."
01/01/2013 - "Phosphorylase kinase and enzymes of glycosylphosphatidylinositol (GPI) anchor biosynthesis were upregulated to a larger extent in ER+ cancers than in ER- cancers, whereas glycogen synthase and phospholipase A2 were downregulated to a larger extent in ER+ cancers than in ER- cancers. "
12/01/2003 - "We conclude that liver phosphorylase kinase deficiency with a severe phenotype, with or without cirrhosis, is indeed often caused by PHKG2 mutations. "
05/01/2000 - "Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)"
01/01/1998 - "Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis."
10/01/1995 - "We describe an Arab girl with complete absence of phosphorylase b kinase activity in the liver, symptomatic hypoglycemia, and persistently elevated serum aminotransferase values whose symptoms did not lessen with age; sequential liver biopsies showed progression to cirrhosis. "
10/01/1995 - "Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver."
|1.||Dextrothyroxine (Dextrothyroxine Sodium)
|7.||AMP-Activated Protein Kinases
|9.||Phosphoglycerate Mutase (Phosphoglyceromutase)
|10.||Phosphoglycerate Kinase (Kinase, Phosphoglycerate)