Human phosphorylase kinase gamma subunit

Details Human phosphorylase kinase gamma subunit Human phosphorylase kinase gamma subunit

1996-09-13

1997-11-04

Wax, Robert A.

Chemistry: molecular biology and microbiology

Enzyme , proenzyme; compositions thereof; process for...

Transferase other than ribonuclease

435193, 435 691, 4352523, 4353201, 530350, 536 232, 424 945, C12N 914, C12N 120, C12N 1500, C12P 2106

Patent

active

056839103

ABSTRACT:
The present invention provides a novel human phosphorylase kinase gamma subunit (HPHKG) and the polynucleotide which identifies and encodes HPHKG. The invention provides for expression vectors and host cells comprising the nucleic acid sequence encoding HPHKG. The invention also provides pharmaceutical compositions containing purified HPHKG or antisense molecules to HPHKG for the treatment of diseases associated with expression of HPHKG. The invention also includes diagnostic compositions containing the polynucleotide, fragments or the complement thereof, which hybridize with the genomic sequence or the transcript of polynucleotides encoding HPHKG or anti-HPHKG antibodies which specifically bind to HPHKG, and the use of such compositions for diagnosis of disease.

REFERENCES:
Bashan, N., et al., "Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency" Pediat. Res., 15:299-303 (1981).
Calalb, M.B., et al., "Molecular Cloning and Enzymatic Analysis of the Rat Homolog of `PhK-.gamma.T,` an Isoform of Phosphorylase Kinase Catalytic Subunit" J. Biol. Chem., 267:1455-1463 (1992).
Cawley, K.C., et al., "Nucleotide sequence of cDNA encoding the catalytic subunit of phosphorylase kinase from rat soleus muscle" Nucleic Acids Res., 16:2355-2356 (1988).
Chamberlain, J.S., et al., "Isolation of cDNA clones for the catalytic .gamma. subunit of mouse muscle phosphorylase kinase: Expression of mRNA in normal and mutant Phk mice" Proc. Natl. Acad. Sci., 84:2886-2890 (1987).
Huang, C.F., et al., "Mutational Analyses of the Metal Ion and Substrate Binding Sites of Phosphorylase Kinase .gamma. Subunit" Biochem., 33:5877-5883 (1994).
Huang, C.F., et al., "Identification of the Substrate and Pseudosubstrate Binding Sites of Phosphorylase Kinase .gamma.-Subunit" J. Biol. Chem., 270:7183-7188 (1995).
Lederer, B., et al., "The Autosomal Form of Phosphorylase Kinase Deficiency in Man: Reduced Activity of the Muscle Enzyme" Biochem. and Biophys. Res. Comm., 92:169-174 (1980).
Moses, S.W., "Muscle Glycogenosis" J. Inher. Metab. Dis., 13:452-465 (1990).
Schneider, A., et al., "Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the .alpha. subunit muscle isoform" Nature Genetics, 5:381-385 (1993).
Wehner, M., et al., "Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the .alpha. subunit" Hum. Mol. Gen., 3:1983-1987 (1994).
Wehner, M., et al., "Human cDNA encoding the muscle isoform of the phosphorylase kinase .gamma. subunit (PHKG1)" Hum Genet, 96:616-618 (1995).
Jones et al. (1990) Biochimica et Biophysica Acta 1048:24-29, Jan. 30, 1990 .

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