| 释义 |
- References
- Further reading
- External links
{{Infobox_gene}}Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.[1][2]References1. ^{{cite journal | author = Willems P | title = Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency | journal = Clin Genet | volume = 38 | issue = 1 | pages = 80 |date=Sep 1990 | pmid = 2387090 | pmc = | doi =10.1111/j.1399-0004.1990.tb03552.x }}
2. ^{{cite web | title = Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5256| accessdate = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Davidson JJ, Ozçelik T, Hamacher C, etal |title=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. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 6 |pages= 2096–100 |year= 1992 |pmid= 1372435 |doi=10.1073/pnas.89.6.2096 | pmc=48603 }}
- {{cite journal |vauthors=Wauters JG, Bossuyt PJ, Davidson J, etal |title=Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp. |journal=Cytogenet. Cell Genet. |volume=60 |issue= 3-4 |pages= 194–6 |year= 1992 |pmid= 1505214 |doi=10.1159/000133334 }}
- {{cite journal |vauthors=Daube H, Billich A, Mann K, Schramm HJ |title=Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease. |journal=Biochem. Biophys. Res. Commun. |volume=178 |issue= 3 |pages= 892–8 |year= 1991 |pmid= 1872871 |doi=10.1016/0006-291X(91)90975-D }}
- {{cite journal |vauthors=Willems PJ, Gerver WJ, Berger R, Fernandes J |title=The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. |journal=Eur. J. Pediatr. |volume=149 |issue= 4 |pages= 268–71 |year= 1990 |pmid= 2303074 |doi=10.1007/BF02106291 }}
- {{cite journal |vauthors=Huijing F, Fernandes J |title=X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. |journal=Am. J. Hum. Genet. |volume=21 |issue= 3 |pages= 275–84 |year= 1969 |pmid= 5306139 |doi= | pmc=1706412 }}
- {{cite journal |vauthors=Hirono H, Hayasaka K, Sato W, etal |title=Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. |journal=Biochem. Mol. Biol. Int. |volume=36 |issue= 3 |pages= 505–11 |year= 1995 |pmid= 7549948 |doi= }}
- {{cite journal |vauthors=Hendrickx J, Coucke P, Dams E, etal |title=Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. |journal=Hum. Mol. Genet. |volume=4 |issue= 1 |pages= 77–83 |year= 1995 |pmid= 7711737 |doi= 10.1093/hmg/4.1.77}}
- {{cite journal |vauthors=van den Berg IE, van Beurden EA, Malingré HE, etal |title=X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. |journal=Am. J. Hum. Genet. |volume=56 |issue= 2 |pages= 381–7 |year= 1995 |pmid= 7847371 |doi= | pmc=1801119 }}
- {{cite journal |vauthors=Wüllrich A, Hamacher C, Schneider A, Kilimann MW |title=The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. |journal=J. Biol. Chem. |volume=268 |issue= 31 |pages= 23208–14 |year= 1993 |pmid= 8226841 |doi= }}
- {{cite journal |vauthors=Hendrickx J, Coucke P, Bossuyt P, etal |title=X-linked liver glycogenosis: localization and isolation of a candidate gene. |journal=Hum. Mol. Genet. |volume=2 |issue= 5 |pages= 583–9 |year= 1993 |pmid= 8518797 |doi=10.1093/hmg/2.5.583 }}
- {{cite journal |vauthors=Hendrickx J, Dams E, Coucke P, etal |title=X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. |journal=Hum. Mol. Genet. |volume=5 |issue= 5 |pages= 649–52 |year= 1997 |pmid= 8733133 |doi=10.1093/hmg/5.5.649 }}
- {{cite journal |vauthors=Burwinkel B, Shin YS, Bakker HD, etal |title=Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). |journal=Hum. Mol. Genet. |volume=5 |issue= 5 |pages= 653–8 |year= 1997 |pmid= 8733134 |doi=10.1093/hmg/5.5.653 }}
- {{cite journal |vauthors=Burwinkel B, Amat L, Gray RG, etal |title=Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. |journal=Hum. Genet. |volume=102 |issue= 4 |pages= 423–9 |year= 1998 |pmid= 9600238 |doi=10.1007/s004390050715 }}
- {{cite journal |vauthors=Hendrickx J, Bosshard NU, Willems P, Gitzelmann R |title=Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. |journal=Eur. J. Pediatr. |volume=157 |issue= 11 |pages= 919–23 |year= 1999 |pmid= 9835437 |doi=10.1007/s004310050967 }}
- {{cite journal |vauthors=Hendrickx J, Lee P, Keating JP, etal |title=Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1541–9 |year= 1999 |pmid= 10330341 |doi=10.1086/302399 | pmc=1377897 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Ban K, Sugiyama K, Goto K, etal |title=Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. |journal=Tohoku J. Exp. Med. |volume=200 |issue= 1 |pages= 47–53 |year= 2004 |pmid= 12862311 |doi=10.1620/tjem.200.47 }}
- {{cite journal | author=Pallen MJ |title=Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase. |journal=Protein Sci. |volume=12 |issue= 8 |pages= 1804–7 |year= 2004 |pmid= 12876330 |doi=10.1110/ps.0371103 | pmc=2323967 }}
- {{cite journal |vauthors=Johnson JM, Castle J, Garrett-Engele P, etal |title=Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. |journal=Science |volume=302 |issue= 5653 |pages= 2141–4 |year= 2004 |pmid= 14684825 |doi= 10.1126/science.1090100 }}
{{refend}}External links- [https://www.ncbi.nlm.nih.gov/books/NBK55061/ GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX]
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