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Items: 1 to 20 of 478

1.

Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance.

Malay AD, Allen KN, Tolan DR.

J Mol Biol. 2005 Mar 18;347(1):135-44. Epub 2005 Jan 20.

PMID:
15733923
2.
3.

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F.

FEBS Lett. 2002 Nov 6;531(2):152-6.

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5.

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM.

J Med Genet. 1991 Apr;28(4):241-3.

6.

Stabilization of the predominant disease-causing aldolase variant (A149P) with zwitterionic osmolytes.

Stopa JD, Chandani S, Tolan DR.

Biochemistry. 2011 Feb 8;50(5):663-71. doi: 10.1021/bi101523x. Epub 2011 Jan 11.

7.

Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.

Santamaria R, Esposito G, Vitagliano L, Race V, Paglionico I, Zancan L, Zagari A, Salvatore F.

Biochem J. 2000 Sep 15;350 Pt 3:823-8.

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9.

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F.

Hum Mutat. 2004 Dec;24(6):534.

PMID:
15532022
10.

The structure of human liver fructose-1,6-bisphosphate aldolase.

Dalby AR, Tolan DR, Littlechild JA.

Acta Crystallogr D Biol Crystallogr. 2001 Nov;57(Pt 11):1526-33. Epub 2001 Oct 25.

PMID:
11679716
11.
12.

[Congenital fructose intolerance. New molecular aspects].

Larsen K, Adnanes O, Aarskog NK, Runde I, Ogreid D.

Tidsskr Nor Laegeforen. 1994 Nov 20;114(28):3312-4. Norwegian.

PMID:
7809888
13.
14.

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F.

Biochem J. 2004 May 15;380(Pt 1):51-6.

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17.

Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

Santamaria R, Tamasi S, Del Piano G, Sebastio G, Andria G, Borrone C, Faldella G, Izzo P, Salvatore F.

J Med Genet. 1996 Sep;33(9):786-8.

18.

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R.

Hum Mutat. 2005 Jun;25(6):594.

PMID:
15880727
19.

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