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Items: 1 to 20 of 143

1.

Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.

Schneider A, Davidson JJ, Wüllrich A, Kilimann MW.

Nat Genet. 1993 Dec;5(4):381-5.

PMID:
8298647
2.
3.
4.

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R.

Am J Hum Genet. 1995 Feb;56(2):381-7.

5.

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.

Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.

Eur J Hum Genet. 2003 Jul;11(7):516-26.

6.

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW.

Hum Mol Genet. 1997 Jul;6(7):1109-15.

PMID:
9215682
7.

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ.

Am J Med Genet A. 2005 Feb 15;133A(1):82-4.

PMID:
15637709
8.

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.

Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW.

Hum Mol Genet. 1998 Jan;7(1):149-54.

PMID:
9384616
9.

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).

Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW.

Hum Mol Genet. 1996 May;5(5):653-8.

PMID:
8733134
10.

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW.

Hum Genet. 1998 Apr;102(4):423-9.

PMID:
9600238
12.

The abundance of calmodulin mRNAs is regulated in phosphorylase kinase-deficient skeletal muscle.

Bender PK, Dedman JR, Emerson CP Jr.

J Biol Chem. 1988 Jul 15;263(20):9733-7.

13.

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.

Hendrickx J, Dams E, Coucke P, Lee P, Fernandes J, Willems PJ.

Hum Mol Genet. 1996 May;5(5):649-52.

PMID:
8733133
15.
16.

Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing.

Harmann B, Zander NF, Kilimann MW.

J Biol Chem. 1991 Aug 25;266(24):15631-7.

17.

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

Davidson JJ, Ozçelik T, Hamacher C, Willems PJ, Francke U, Kilimann MW.

Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2096-100.

18.

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.

Willems PJ, Hendrickx J, Van der Auwera BJ, Vits L, Raeymaekers P, Coucke PJ, Van den Bergh I, Berger R, Smit GP, Van Broeckhoven C, et al.

Genomics. 1991 Apr;9(4):565-9.

PMID:
1674721
19.

Muscle phosphorylase b kinase deficiency revisited.

Echaniz-Laguna A, Akman HO, Mohr M, Tranchant C, Talmant-Verbist V, Rolland MO, Dimauro S.

Neuromuscul Disord. 2010 Feb;20(2):125-7. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18.

PMID:
20080404
20.

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