메뉴 건너뛰기




Volumn 97, Issue 5, 1996, Pages 551-556

Genetic deficiencies of the glycogen phosphorylase system

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE; PHOSPHORYLASE KINASE;

EID: 0029878143     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281858     Document Type: Short Survey
Times cited : (29)

References (51)
  • 2
    • 0023664567 scopus 로고
    • Skeletal muscle phosphorylase kinase catalytic subunit mRNAs are expressed in heart tissue but not in liver
    • Bender PK. Emerson CP (1987) Skeletal muscle phosphorylase kinase catalytic subunit mRNAs are expressed in heart tissue but not in liver. J Biol Chem 262: 8799-8805
    • (1987) J Biol Chem , vol.262 , pp. 8799-8805
    • Bender, P.K.1    Emerson, C.P.2
  • 3
    • 0027207975 scopus 로고
    • Localization of the human bona fida calmodulin genes CALM 1, CALM 2 and CALM 3 to chromosomes 14q24-q31. 2p21.1-p21.3. and 19q13.2-q13.3
    • Berchtold MW, Egli R, Rhyner JA, Hameister H, Strehler EE (1993) Localization of the human bona fida calmodulin genes CALM 1, CALM 2 and CALM 3 to chromosomes 14q24-q31. 2p21.1-p21.3. and 19q13.2-q13.3. Genomics 16: 461-465
    • (1993) Genomics , vol.16 , pp. 461-465
    • Berchtold, M.W.1    Egli, R.2    Rhyner, J.A.3    Hameister, H.4    Strehler, E.E.5
  • 6
    • 0023613527 scopus 로고
    • Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase
    • Burke J, Hwang P, Anderson L, Gorin F, Fletterick R (1987) Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins 2: 177-187
    • (1987) Proteins , vol.2 , pp. 177-187
    • Burke, J.1    Hwang, P.2    Anderson, L.3    Gorin, F.4    Fletterick, R.5
  • 7
    • 0026594955 scopus 로고
    • Molecular cloning and enzymatic analysis of the rat homolog of "PHk-T", an isoform of phosphorylase kinase catalytic subunit
    • Calalb MB, Fox, DT, Hanks SK (1992) Molecular cloning and enzymatic analysis of the rat homolog of "PHk-(T", an isoform of phosphorylase kinase catalytic subunit. J Biol Chem 267: 1455-1463
    • (1992) J Biol Chem , vol.267 , pp. 1455-1463
    • Calalb, M.B.1    Fox, D.T.2    Hanks, S.K.3
  • 8
  • 9
    • 0026555644 scopus 로고
    • cDNA encoding a liver isoform of the phosphorylase kinase α subunit: Its structural gene maps to the locus of X-linked liver glycoaenosis
    • Davidson JJ, Ozcelik T, Harnacher C, Willems, PJ, Francke U, Kilimann MW (1992) cDNA encoding a liver isoform of the phosphorylase kinase α subunit: its structural gene maps to the locus of X-linked liver glycoaenosis. Proc Natl Acad Sci USA 89: 2096-2100
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 2096-2100
    • Davidson, J.J.1    Ozcelik, T.2    Harnacher, C.3    Willems, P.J.4    Francke, U.5    Kilimann, M.W.6
  • 10
    • 0000079854 scopus 로고
    • Phosphorylase deficiency
    • Engel AG, Banker BQ (eds). McGraw-Hill, New York
    • DiMauro S, Bresolin N (1986) Phosphorylase deficiency. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1585-1601
    • (1986) Myology , pp. 1585-1601
    • DiMauro, S.1    Bresolin, N.2
  • 12
    • 0024459470 scopus 로고
    • Assignment of human genes for phosphorylase kinase subunits α (PHKA) to Xq12-q13 and β (PHKB) to 16q12-q13
    • Francke U, Darras BT, Zander NF, Kilimann MW (1989) Assignment of human genes for phosphorylase kinase subunits α (PHKA) to Xq12-q13 and β (PHKB) to 16q12-q13. Am J Hum Genet 45: 276-282
    • (1989) Am J Hum Genet , vol.45 , pp. 276-282
    • Francke, U.1    Darras, B.T.2    Zander, N.F.3    Kilimann, M.W.4
  • 14
    • 34250150812 scopus 로고
    • Glycogen phosphorylase b kinase deficiency in three siblings
    • Gray RGF, Kumar D, Whitfield AE (1983) Glycogen phosphorylase b kinase deficiency in three siblings. J Inherit Metab Dis 6: 107
    • (1983) J Inherit Metab Dis , vol.6 , pp. 107
    • Gray, R.G.F.1    Kumar, D.2    Whitfield, A.E.3
  • 15
    • 0015467212 scopus 로고
    • Héterogénéité de la glycogénose type VI. Etude de l'activité de la phosphorylase leucocytaire dans deux familles
    • Guibaud P, Mathieu M (1972) Héterogénéité de la glycogénose type VI. Etude de l'activité de la phosphorylase leucocytaire dans deux familles. Arch Fr Pédiatr 29: 1043-1057
    • (1972) Arch Fr Pédiatr , vol.29 , pp. 1043-1057
    • Guibaud, P.1    Mathieu, M.2
  • 16
    • 0024569807 scopus 로고
    • Messenger ribonucleic acid encoding an apparent isoform of phosphorylase catalytic subunit is abundant in the adult testis
    • Hanks SK (1989) Messenger ribonucleic acid encoding an apparent isoform of phosphorylase catalytic subunit is abundant in the adult testis. Mol Endocrinol 3: 110-116
    • (1989) Mol Endocrinol , vol.3 , pp. 110-116
    • Hanks, S.K.1
  • 17
    • 0026045922 scopus 로고
    • Isoform diversity of phosphorylase kinase α and β subunits generated by alternative RNA splicing
    • Harmann B. Zander NF, Kilimann MW (1991) Isoform diversity of phosphorylase kinase α and β subunits generated by alternative RNA splicing. J Biol Chem 266: 15631-15637
    • (1991) J Biol Chem , vol.266 , pp. 15631-15637
    • Harmann, B.1    Zander, N.F.2    Kilimann, M.W.3
  • 21
    • 13344258542 scopus 로고
    • Pre- and postnatal diagnosis of glycogen storage Disease
    • Burman D, Holton JB, Pennock CA (eds). University Park Press, Baltimore
    • Hug G (1980) Pre- and postnatal diagnosis of glycogen storage Disease. In: Burman D, Holton JB, Pennock CA (eds) Inherited disorders of carbohydrate metabolism. University Park Press, Baltimore, pp 327-368
    • (1980) Inherited Disorders of Carbohydrate Metabolism , pp. 327-368
    • Hug, G.1
  • 22
    • 0014938561 scopus 로고
    • Type VI glycogenosis: Biochemical demonstration of liver phosphorylase deficiency
    • Hug G, Schubert WK (1970) Type VI glycogenosis: biochemical demonstration of liver phosphorylase deficiency. Biochem Biophys Res Commun 41: 1178-1184
    • (1970) Biochem Biophys Res Commun , vol.41 , pp. 1178-1184
    • Hug, G.1    Schubert, W.K.2
  • 23
    • 0014026064 scopus 로고
    • Phosphorylase kinase of the liver: Deficiency in a airl with increased hepatic slycogen
    • Hug G, Schubert WK, Chuck G (1966) Phosphorylase kinase of the liver: deficiency in a airl with increased hepatic slycogen. Science 153: 1534-1535
    • (1966) Science , vol.153 , pp. 1534-1535
    • Hug, G.1    Schubert, W.K.2    Chuck, G.3
  • 24
    • 0014493445 scopus 로고
    • Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver
    • Hug G, Schubert, WK, Chuck G (1969) Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. J Clin Invest 48: 704-715
    • (1969) J Clin Invest , vol.48 , pp. 704-715
    • Hug, G.1    Schubert, W.K.2    Chuck, G.3
  • 25
    • 0014514631 scopus 로고
    • X-chromosomal inheritance of liver slycogenosis with phosphorylase kinase deficiency
    • Huijing F, Fernandes J (1969) X-chromosomal inheritance of liver slycogenosis with phosphorylase kinase deficiency. Am J Hum Genet 21: 275-284
    • (1969) Am J Hum Genet , vol.21 , pp. 275-284
    • Huijing, F.1    Fernandes, J.2
  • 26
    • 0025044486 scopus 로고
    • Localization of the gene encoding the catalytic γ subunit of phosphorylase kinase to human chromosome bands 7p12-q21
    • Jones TA, Cruz e Silva EF da, Spurr NK, Sheer D, Cohen PTW (1990) Localization of the gene encoding the catalytic γ subunit of phosphorylase kinase to human chromosome bands 7p12-q21. Biochem Biophys Acta 1048: 24-29
    • (1990) Biochem Biophys Acta , vol.1048 , pp. 24-29
    • Jones, T.A.1    Da Cruz E Silva, E.F.2    Spurr, N.K.3    Sheer, D.4    Cohen, P.T.W.5
  • 27
    • 0024210414 scopus 로고
    • The α and β subunits of phosphorylase kinase are homologous: CDNA cloning and primary structure of the β subunit
    • Kilimann MW, Zander NF, Kuhn CC, Crabb JW, Meyer HE. Heilmeyer LMG (1988) The α and β subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the β subunit. Proc Natl Acad Sci USA 85: 9381-9385
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 9381-9385
    • Kilimann, M.W.1    Zander, N.F.2    Kuhn, C.C.3    Crabb, J.W.4    Meyer, H.E.5    Heilmeyer, L.M.G.6
  • 31
    • 0024441682 scopus 로고
    • Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle
    • Madlom M, Besley GTN, Cohen PTW, Marrian VJ (1989) Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle. Eur J Pediatr 149: 52-53
    • (1989) Eur J Pediatr , vol.149 , pp. 52-53
    • Madlom, M.1    Besley, G.T.N.2    Cohen, P.T.W.3    Marrian, V.J.4
  • 32
    • 0026016682 scopus 로고
    • Biochemical diagnosis of hepatic glycogen storage disease: 20 years of French experience
    • Maire I, Baussan C, Moatti N, Mathieu M, Lemonnier A (1991) Biochemical diagnosis of hepatic glycogen storage disease: 20 years of French experience. Clin Biochem 24: 169-178
    • (1991) Clin Biochem , vol.24 , pp. 169-178
    • Maire, I.1    Baussan, C.2    Moatti, N.3    Mathieu, M.4    Lemonnier, A.5
  • 34
    • 0037889501 scopus 로고
    • Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage (muscle/ G+C content)
    • Newgard CB, Nakano K, Hwang PK, Fletterick RJ (1986) Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage (muscle/ G+C content). Proc Natl Acad Sci USA 83: 8132-8136
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 8132-8136
    • Newgard, C.B.1    Nakano, K.2    Hwang, P.K.3    Fletterick, R.J.4
  • 35
    • 0023860930 scopus 로고
    • Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression and comparison with the human liver and muscle isozymes
    • Newgard CB, Littman DR, Genderen C van, Smith M, Fletterick RJ (1988) Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression and comparison with the human liver and muscle isozymes. J Biol Chem 263: 3850-3857
    • (1988) J Biol Chem , vol.263 , pp. 3850-3857
    • Newgard, C.B.1    Littman, D.R.2    Van Genderen, C.3    Smith, M.4    Fletterick, R.J.5
  • 36
    • 0020032603 scopus 로고
    • Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency
    • Ohtani Y, Matsuda I, Iwamasa T, Tamari H, Origuchi Y, Miike T (1982) Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. Neurology 32: 833-838
    • (1982) Neurology , vol.32 , pp. 833-838
    • Ohtani, Y.1    Matsuda, I.2    Iwamasa, T.3    Tamari, H.4    Origuchi, Y.5    Miike, T.6
  • 37
    • 77956897434 scopus 로고
    • Phosphorylase kinase
    • Boyer PD, Krebs EG (eds). Academic Press, Orlando
    • Pickett-Gies CR, Walsh DA (1986) Phosphorylase kinase. In: Boyer PD, Krebs EG (eds) The enzymes. Academic Press, Orlando, pp 395-459
    • (1986) The Enzymes , pp. 395-459
    • Pickett-Gies, C.R.1    Walsh, D.A.2
  • 38
    • 0026486324 scopus 로고
    • Physical localization of chromosome 20 markers using somatic cell hybrid cell lines and fluorescence in situ hybridization
    • Rao PN, Hayworth R, Akots G, Pettenati MJ, Bowden DW (1992) Physical localization of chromosome 20 markers using somatic cell hybrid cell lines and fluorescence in situ hybridization. Genomics 14: 532-535
    • (1992) Genomics , vol.14 , pp. 532-535
    • Rao, P.N.1    Hayworth, R.2    Akots, G.3    Pettenati, M.J.4    Bowden, D.W.5
  • 39
    • 0015865137 scopus 로고
    • Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency
    • Schimke RN, Zakheim RM, Corder RC, Hug G (1973) Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J Pediatr 83: 1031-1034
    • (1973) J Pediatr , vol.83 , pp. 1031-1034
    • Schimke, R.N.1    Zakheim, R.M.2    Corder, R.C.3    Hug, G.4
  • 40
    • 0023519975 scopus 로고
    • Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species
    • SenGupta B, Friedberg F, Detera-Wadleigh SD (1987) Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species. J Biol Chem 262: 16663-16670
    • (1987) J Biol Chem , vol.262 , pp. 16663-16670
    • Sengupta, B.1    Friedberg, F.2    Detera-Wadleigh, S.D.3
  • 41
    • 0023940227 scopus 로고
    • Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency
    • Servidei S, Mitlay LA, Chodosh J, DiMauro S (1988) Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr 113: 82-85
    • (1988) J Pediatr , vol.113 , pp. 82-85
    • Servidei, S.1    Mitlay, L.A.2    Chodosh, J.3    DiMauro, S.4
  • 42
    • 0027194215 scopus 로고
    • Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
    • Tsujino S, Shanske S, DiMauro S (1993) Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 329: 241-245
    • (1993) N Engl J Med , vol.329 , pp. 241-245
    • Tsujino, S.1    Shanske, S.2    DiMauro, S.3
  • 44
    • 0028339375 scopus 로고
    • Two mutations, one novel and one frequently observed, in Japanese patients with McArdie's disease
    • Tsujino S, Shanske S, Goto Y, Nonaka I, DiMauro S (1994b) Two mutations, one novel and one frequently observed, in Japanese patients with McArdie's disease. Hum Mol Genet 3: 1005-1006
    • (1994) Hum Mol Genet , vol.3 , pp. 1005-1006
    • Tsujino, S.1    Shanske, S.2    Goto, Y.3    Nonaka, I.4    DiMauro, S.5
  • 45
    • 0028241762 scopus 로고
    • An A-to-C substitution involving the transiation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)
    • Tsujino S, Rubin LA, Shanske S, DiMauro S (1994c) An A-to-C substitution involving the transiation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). Hum Mutat 4: 73-75
    • (1994) Hum Mutat , vol.4 , pp. 73-75
    • Tsujino, S.1    Rubin, L.A.2    Shanske, S.3    DiMauro, S.4
  • 47
    • 0021127994 scopus 로고
    • Isolation and nucleotide sequence of a cDNA encoding human calmodulin
    • Wawrzynczak EJ, Perham RN (1984) Isolation and nucleotide sequence of a cDNA encoding human calmodulin. Biochem Int 9: 177-185
    • (1984) Biochem Int , vol.9 , pp. 177-185
    • Wawrzynczak, E.J.1    Perham, R.N.2
  • 48
    • 0027938957 scopus 로고
    • Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the α subunit
    • Wehner M, Clemens PR, Engel AG, Kilimann MW (1994) Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the α subunit. Hum Mol Genet 3: 1983-1987
    • (1994) Hum Mol Genet , vol.3 , pp. 1983-1987
    • Wehner, M.1    Clemens, P.R.2    Engel, A.G.3    Kilimann, M.W.4
  • 49
    • 0025177250 scopus 로고
    • The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients
    • Willems PJ, Gerver WJM, Berger R, Fernandes J (1990) The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Eur J Pediatr 149: 268-271
    • (1990) Eur J Pediatr , vol.149 , pp. 268-271
    • Willems, P.J.1    Gerver, W.J.M.2    Berger, R.3    Fernandes, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.