메뉴 건너뛰기




Volumn 23, Issue , 2015, Pages 1-6

Arginine functionally improves clinically relevant human galactose-1-phosphate uridylyltransferase (GALT) variants expressed in a prokaryotic model

Author keywords

Arginine; Classic galactosemia; Galactose sensitivity; Missense mutations; Protein aggregation

Indexed keywords


EID: 84983550060     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_420     Document Type: Chapter
Times cited : (17)

References (24)
  • 1
    • 0037466513 scopus 로고    scopus 로고
    • The effects of arginine on refolding of aggregated proteins: Not facilitate refolding, but suppress aggregation
    • Arakawa T, Tsumoto K (2003) The effects of arginine on refolding of aggregated proteins: not facilitate refolding, but suppress aggregation. Biochem Biophys Res Commun 304:148–152
    • (2003) Biochem Biophys Res Commun , vol.304 , pp. 148-152
    • Arakawa, T.1    Tsumoto, K.2
  • 2
    • 31544450286 scopus 로고    scopus 로고
    • Construction of Escherichia coli K-12 in-frame, single-gene knockout mutants: The Keio collection
    • Baba T, Ara T, Hasegawa M et al (2006) Construction of Escherichia coli K-12 in-frame, single-gene knockout mutants: the Keio collection. Mol Syst Biol 2:1–11
    • (2006) Mol Syst Biol , vol.2 , pp. 1-11
    • Baba, T.1    Ara, T.2    Hasegawa, M.3
  • 3
    • 15444374846 scopus 로고    scopus 로고
    • Role of arginine in the stabilization of proteins against aggregation
    • Baynes BM, Wang DIC, Trout BL (2005) Role of arginine in the stabilization of proteins against aggregation. Biochemistry 44:4919–4925
    • (2005) Biochemistry , vol.44 , pp. 4919-4925
    • Baynes, B.M.1    Wang, D.I.C.2    Trout, B.L.3
  • 4
    • 84883867896 scopus 로고    scopus 로고
    • Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
    • Berendse K, Ebberink MS, IJlst L, Wanders RJ, Waterham HR (2013) Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. Orphanet J Rare Dis 8:138–145
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 138-145
    • Berendse, K.1    Ebberink, M.S.2    Ijlst, L.3    Wanders, R.J.4    Waterham, H.R.5
  • 5
    • 84890560312 scopus 로고    scopus 로고
    • Disorders of galactose metabolism
    • Saudubray JM, van den Berghe G, Walter JH, Springer, Germany
    • Berry GT, Walter JH (2012). Disorders of galactose metabolism. In: Saudubray JM, van den Berghe G, Walter JH (eds). Inborn metabolic diseases: diagnosis and treatment. Springer, Germany
    • (2012) Inborn Metabolic Diseases: Diagnosis and Treatment
    • Berry, G.T.1    Walter, J.H.2
  • 6
    • 33746867852 scopus 로고    scopus 로고
    • Classical galactosaemia revisited
    • Bosch AM (2006) Classical galactosaemia revisited. J Inherit Metab Dis 29:516–525
    • (2006) J Inherit Metab Dis , vol.29 , pp. 516-525
    • Bosch, A.M.1
  • 7
    • 34948901347 scopus 로고    scopus 로고
    • Mutation database for the galactose-1-phosphate uridyltransfer-ase (GALT) gene
    • Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R (2007) Mutation database for the galactose-1-phosphate uridyltransfer-ase (GALT) gene. Hum Mutat 28:939–943
    • (2007) Hum Mutat , vol.28 , pp. 939-943
    • Calderon, F.R.1    Phansalkar, A.R.2    Crockett, D.K.3    Miller, M.4    Mao, R.5
  • 8
    • 64549158894 scopus 로고    scopus 로고
    • Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase
    • Carney AE, Sanders RD, Garza KR et al (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. Hum Mol Genet 18:1624–1632
    • (2009) Hum Mol Genet , vol.18 , pp. 1624-1632
    • Carney, A.E.1    Sanders, R.D.2    Garza, K.R.3
  • 9
    • 84989346858 scopus 로고    scopus 로고
    • The effect of fructose, galactose, and glucose on the induction of b-galactosidase in Escherichia coli
    • Chu C, Han C, Shimizu H, Wong B (2002) The effect of fructose, galactose, and glucose on the induction of b-galactosidase in Escherichia coli. J Exp Microbiol Immunol 2:1–5
    • (2002) J Exp Microbiol Immunol , vol.2 , pp. 1-5
    • Chu, C.1    Han, C.2    Shimizu, H.3    Wong, B.4
  • 10
    • 84942762217 scopus 로고    scopus 로고
    • Functional and structural impact of the most prevalent missense mutations in classic galactosemia
    • Coelho AI, Trabuco M, Ramos R et al (2014) Functional and structural impact of the most prevalent missense mutations in classic galactosemia. Mol Genet Genomic Med 2:484–496
    • (2014) Mol Genet Genomic Med , vol.2 , pp. 484-496
    • Coelho, A.I.1    Trabuco, M.2    Ramos, R.3
  • 11
  • 12
    • 47549110972 scopus 로고    scopus 로고
    • Carbon catabolite repression in bacteria: Many ways to make the most out of nutrients
    • Gorke B, Stulke J (2008) Carbon catabolite repression in bacteria: many ways to make the most out of nutrients. Nat Rev Microbiol 6:613–624
    • (2008) Nat Rev Microbiol , vol.6 , pp. 613-624
    • Gorke, B.1    Stulke, J.2
  • 15
    • 84877322610 scopus 로고    scopus 로고
    • Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia
    • McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ (2013) Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia. Biochim Biophys Acta 1832:1279–1293
    • (2013) Biochim Biophys Acta , vol.1832 , pp. 1279-1293
    • McCorvie, T.J.1    Gleason, T.J.2    Fridovich-Keil, J.L.3    Timson, D.J.4
  • 16
    • 0023665309 scopus 로고
    • Sugar transport by the bacterial phosphotransferase system. Reconstitution of inducer exclusion in Salmonella typhimurium membrane vesicles
    • Misko TP, Mitchell W, Meadow N, Roseman S (1987) Sugar transport by the bacterial phosphotransferase system. Reconstitution of inducer exclusion in Salmonella typhimurium membrane vesicles. J Biol Chem 262:16261–16266
    • (1987) J Biol Chem , vol.262 , pp. 16261-16266
    • Misko, T.P.1    Mitchell, W.2    Meadow, N.3    Roseman, S.4
  • 17
    • 0035815717 scopus 로고    scopus 로고
    • Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase
    • Riehman K, Crews C, Fridovich-Keil JL (2001) Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. J Biol Chem 276:10634–10640
    • (2001) J Biol Chem , vol.276 , pp. 10634-10640
    • Riehman, K.1    Crews, C.2    Fridovich-Keil, J.L.3
  • 18
    • 4744347780 scopus 로고    scopus 로고
    • Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast
    • Ross KL, Davis CN, Fridovich-Keil JL (2004) Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Mol Genet Metab 83:103–116
    • (2004) Mol Genet Metab , vol.83 , pp. 103-116
    • Ross, K.L.1    Davis, C.N.2    Fridovich-Keil, J.L.3
  • 19
    • 0033856120 scopus 로고    scopus 로고
    • The relationship of genotype to cognitive outcome in galactosaemia
    • Shield JPH (2000) The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 83:248–250
    • (2000) Arch Dis Child , vol.83 , pp. 248-250
    • Shield, J.P.H.1
  • 20
    • 84898826977 scopus 로고    scopus 로고
    • Metabolic regulation of a bacterial cell system with emphasis on Escherichia coli metabolism
    • 1–645983:47
    • Shimizu K (2013) Metabolic regulation of a bacterial cell system with emphasis on Escherichia coli metabolism. ISRN Biochem 2013:645983:1–645983:47
    • (2013) ISRN Biochem , vol.2013
    • Shimizu, K.1
  • 21
    • 57049133599 scopus 로고    scopus 로고
    • Pyruvate dehydrogenase deficiency: Identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation
    • Silva MJ, Pinheiro A, Eusebio F, Gaspar A, Tavares de Almeida I, Rivera I (2009) Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation. Eur J Pediatr 168:17–22
    • (2009) Eur J Pediatr , vol.168 , pp. 17-22
    • Silva, M.J.1    Pinheiro, A.2    Eusebio, F.3    Gaspar, A.4    Tavares de Almeida, I.5    Rivera, I.6
  • 22
    • 84868620752 scopus 로고    scopus 로고
    • Glucose transport in Escherichia coli mutant strains with defects in sugar transport systems
    • Steinsiek S, Bettenbrock K (2012) Glucose transport in Escherichia coli mutant strains with defects in sugar transport systems. J Bacteriol 194:5897–5908
    • (2012) J Bacteriol , vol.194 , pp. 5897-5908
    • Steinsiek, S.1    Bettenbrock, K.2
  • 23
    • 0034839364 scopus 로고    scopus 로고
    • Large-scale molecular screening for galactosemia alleles in a pan-ethnic population
    • Suzuki M, West C, Beutler E (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet 109:210–215
    • (2001) Hum Genet , vol.109 , pp. 210-215
    • Suzuki, M.1    West, C.2    Beutler, E.3
  • 24
    • 0025648036 scopus 로고
    • Long-term prognosis in galactosaemia: Results of a survey of 350 cases
    • Waggoner DD, Buist NRM, Donnel GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13:802–818
    • (1990) J Inherit Metab Dis , vol.13 , pp. 802-818
    • Waggoner, D.D.1    Buist, N.R.M.2    Donnel, G.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.