Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion (381 views)
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2010 Dec; 31(12): 1294-1303.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 5.956, 5-year impact factor: 6.212
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-78649595331&partnerID=40&md5=cbaebf995a0ca80bcd4bb00d789f3748
Keywords: Aldob Kinetic Analysis, Aldob Molecular Modeling, Hfi Molecular Diagnosis, Hfi Molecular Epidemiology, Intragenic Deletion, Missense Mutations, Fructose Bisphosphate Aldolase, Allele, Article, Case Report, Catalysis, Child, Female, Gene Deletion, Gene Sequence, Genetic Variability, Hereditary Fructose Intolerance, Human, Nucleotide Sequence, Priority Journal, School Child, Site Directed Mutagenesis, Symptom, Base Sequence, Circular Dichroism, Fatal Outcome, Fructose-Bisphosphate Aldolase, Gene Frequency, Infant, Molecular Sequence Data, Pedigree, Protein Structure, Secondary, Recombinant Proteins,
Affiliations:
*** IBB - CNR ***
CEINGE-Biotecnologie Avanzate S.C.a r.l., Napoli, Italy
Dipartimento di Biochimica e Biotecnologie Mediche, Università degli Studi di Napoli Federico II Napoli, Italy
IRCCS-Fondazione SDN, Via E. Gianturco 113, 80143 Napoli, Italy
Unità Operativa di Pediatria, Ospedale S. Giovanni di Dio, Agrigento, Italy
Dipartimento di Pediatria, Università degli Studi di Napoli Federico II Napoli, Italy
Clinica Pediatrica, Ospedale S. Gerardo, Monza, Italy
Istituto di Biostrutture e Bioimmagini, CNR, Napoli, Italy
Dipartimento delle Scienze Biologiche-Sezione Biostrutture e CNISM, Università degli Studi di Napoli Federico II Napoli, Italy
Unit Operativa di Pediatria, Ospedale S. Giovanni di Dio, Agrigento, Italy
References:
Ali, M., Cox, T.M., Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance (1995) Am J Hum Genet, 56, pp. 1002-100
Ali, M., Rellos, P., Cox, T., Hereditary fructose intolerance (1998) J Med Genet, 35, pp. 353-365
Ali, M., Rosien, U., Cox, T.M., DNA diagnosis of fatal fructose intolerance from archival tissue (1993) Q J Med, 86, pp. 25-30
Ali, M., Sebastio, G., Cox, T.M., Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated with hereditary fructose intolerance (1994) Hum Mol Genet, 3, pp. 203-204
Ali, M., Tuncman, G., Cross, N., Vidailhet, M., Bokesoy, I., Gitzelmann, R., Cox, T.M., Null alleles of the aldolase B gene in patients with hereditary fructose intolerance (1994) J Med Genet, 31, pp. 499-503
Antonorakis, S.E., Krawczak, M., Cooper, D.N., The genetic basis of human cancer (2000) The nature and mechanisms of human gene mutation, , In: Vogelstein B, Kinzler KW, editors. New York: McGraw Hill
Blom, N., Sygusch, J., Product binding and role of the C-terminal region in class I D-fructose 1,6-bisphosphate aldolase (1997) Nat Struct Biol, 4, pp. 36-39
Brooks, C.C., Buist, N., Tuerck, J., Tolan, D.R., Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance (1991) Am J Hum Genet, 49, pp. 1075-1081
Brooks, C.C., Tolan, D.R., A partially active mutant aldolase B from a patient with hereditary fructose intolerance (1994) FASEB J, 8, pp. 107-113
Catto-Smith, A.G., Adams, A., A possible case of transient hereditary fructose intolerance (1993) J Inherit Metab Dis, 16, pp. 73-77
Choi, K.H., Mazurkie, A.S., Morris, A.J., Utheza, D., Tolan, D.R., Allen, K.A., Structure of a fructose-1,6-bis(phosphate) aldolase liganded to its natural substrate in a cleavage-defective mutant at 2.3 Å (1999) Biochemistry, 38, pp. 12655-12664
Choi, K.H., Shi, J., Hopkins, C.E., Tolan, D.R., Allen, K.N., Snapshots of catalysis: the structure of fructose-1,6-(bis)phosphate aldolase covalently bound to the substrate dihydroxyacetone phosphate (2001) Biochemistry, 40, pp. 13868-13875
Choi, Y.K., Johlin, F.C., Summers, R.W., Jackson, M., Rao, S.S.C., Fructose intolerance: an under-recognized problem (2003) Am J Gastroenterol, 98, pp. 1348-1353
Coffee, E.M., Yerkes, L., Ewen, E.P., Zee, T., Tolan, D.R., Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population (2009) J Inherit Metab Dis, 33, pp. 33-42
Cox, T.M., The genetic consequences of our sweet tooth (2002) Nat Rev Genet, 3, pp. 481-487
Cross, N.C., Cox, T.M., Partial aldolase B gene deletion in hereditary fructose intolerance (1990) Am J Hum Genet, 47, pp. 101-106
Cross, N.C., Stojanov, L.M., Cox, T.M., A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia (1990) Nucleic Acids Res, 18, p. 1925
Cross, N.C., Tolan, D.R., Cox, T.M., Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation (1988) Cell, 53, pp. 881-885
Dalby, R.D., Tolan, D.R., Littlechild, J.A., The structure of human liver fructose-1,6-bisphosphate aldolase (2001) Acta Cryst D Biol Crystallogr, 57, pp. 1526-1533
Davit-Spraul, A., Costa, C., Zater, M., Habes, D., Berthelot, J., Broué, P., Feillet, F., Baussan, C., Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France-identification of eight new mutations (2008) Mol Genet Metab, 94, pp. 443-447
Dazzo, C., Tolan, D.R., Molecular evidence for compound heterozygosity in hereditary fructose intolerance (1990) Am J Hum Genet, 46, pp. 1194-1199
Dursun, A., Kalkanoǧlu, H.S., Coşkun, T., Tokatli, A., Bittner, R., Koçak, N., Yüce, A., Boehme, H.J., Mutation analysis in Turkish patients with hereditary fructose intolerance (2001) J Inherit Metab Dis, 24, pp. 523-526
Esposito, G., Santamaria, R., Vitagliano, L., Ieno, L., Viola, A., Fiori, L., Parenti, G., Salvatore, F., Six novel alleles identified in italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene (2004) Hum Mutat, 24, p. 534
Esposito, G., Vitagliano, L., Cevenini, A., Amelio, T., Zagari, A., Salvatore, F., Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child (2005) Blood, 105, pp. 905-906
Gruchota, J., Pronicka, E., Korniszewski, L., Stolarski, B., Pollak, A., Rogaszewska, M., Ploski, R., Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population (2006) Mol Genet Metab, 87, pp. 376-378
Hutchinson, E.G., Thornton, J.M., PROMOTIF-a program to identify and analyze structural motifs in proteins (1996) Protein Sci, 5, pp. 212-220
James, C.L., Rellos, P., Ali, M., Heeley, A.F., Cox, T.M., Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population (1996) J Med Genet, 33, pp. 837-841
Jones, T.A., Zou, J.Y., Cowan, S.W., Kjeldgaard, M., Improved methods for building proteins models in electron density maps and the location of errors in these models (1991) Acta Crystallogr sect A, 47, pp. 110-119
Kajihara, S., Mukai, T., Arai, Y., Owada, M., Kitagawa, T., Hori, K., Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene (1990) Am J Hum Genet, 47, pp. 562-567
Kriegshäuser, G., Halsall, D., Rauscher, B., Oberkanins, C., Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance (2007) Mol Cell Probes, 21, pp. 226-228
Kullberg-Lindh, C., Hannoun, C., Lindh, M., Simple method for detection of mutations causing hereditary fructose intolerance (2002) J Inherit Metab Dis, 25, pp. 571-575
Laskowski, R.A., MacArthur, M.W., Moss, D.S., Thornton, J.M., PROCHECK: a program to check the stereochemical quality of protein structures (1993) J Appl Crystallogr, 26, pp. 283-291
Malay, A.D., Allen, K.N., Tolan, D.R., Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance (2005) J Mol Biol, 347, pp. 135-144
Miller, A., Adeli, K., Dietary fructose and the metabolic syndrome (2008) Curr Opin Gastroenterol, 24, pp. 204-209
Pezza, J.A., Choi, K.H., Berardini, T.Z., Beernink, P.T., Allen, K.N., Tolan, D.R., Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose-1,6-bisphosphate aldolase (2003) J Biol Chem, 278, pp. 17907-17919
Rellos, P., Sygusch, J., Cox, T.M., Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis (2000) J Biol Chem, 275, pp. 1145-1151
Salvatore, F., Izzo, P., Paolella, G., Horizons in biochemistry biophysics (1986) Aldolase gene and protein families: structure, expression and pathophysiology, 8, pp. 611-665. , In: Blasi F, editor., New York: John Wiley and Sons
Sanchez-Gutierrez, J.C., Benlloch, T., Leal, M.A., Samper, B., Garcia-Ripoll, I., Feliu, J.E., Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain (2002) J Med Genet, 39, pp. e56
Santamaria, R., Esposito, G., Vitagliano, L., Race, V., Paglionico, I., Zancan, L., Zagari, A., Salvatore, F., Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase (2000) Biochem J, 350, pp. 823-828
Santamaria, R., Scarano, M.I., Esposito, G., Chiandetti, L., Izzo, P., Salvatore, F., The molecular basis of hereditary fructose intolerance in Italian children (1993) Eur J Clin Chem Clin Biochem, 31, pp. 675-678
Santamaria, R., Tamasi, S., Del Piano, G., Sebastio, G., Andria, G., Borrone, C., Faldella, G., Salvatore, F., Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene (1996) J Med Genet, 33, pp. 786-788
Santer, R., Rischewski, J., von Weihe, M., Niederhaus, M., Schneppenheim, S., Baerlocher, K., Kohlschütter, A., Schneppenheim, R., The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe (2005) Hum Mutat, 25, p. 594
Sherawat, M., Tolan, D.R., Allen, K.N., Structure of a rabbit muscle fructose-1,6-bisphosphate aldolase A dimer variant (2008) Acta Crystallogr D, 64, pp. 543-550
Steinmann, B., Gitzelmann R, ., The diagnosis of hereditary fructose intolerance (1981) Helv Paediatr Acta, 36, p. 297
Stenson, P.D., Ball, E.V., Mort, M., Phillips, A.D., Shiel, J.A., Thomas, N.S., Abeysinghe, S., Cooper, D.N., The Human Gene Mutation Database (HGMD): 2003 update (2003) Hum Mutat, 21, pp. 577-581
St-Jean, M., Izard, T., Sygusch, J., Stereospecific proton transfer by a mobile catalyst in mammalian fructose-1,6-bisphosphate aldolase (2007) J Biol Chem, 282, pp. 14309-14315
St-Jean, M., Lafrance-Vanasse, J., Liotard, B., Sygusch, J., High resolution reaction intermediates of rabbit muscle fructose-1,6-bisphosphate aldolase: substrate cleavage and induced fit (2005) J Biol Chem, 280, pp. 27262-27270
Toffolatti, L., Cardazzo, B., Nobile, C., Danieli, G.A., Gualandi, F., Muntoni, F., Abbs, S., Patarnello, T., Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene (2002) Genomics, 80, pp. 523-530
Van Der Spoel, D., Lindahl, E., Hess, B., Groenhof, G., Mark, A.E., Berendsen, H.J., GROMACS: fast, flexible, and free (2005) J Comput Chem, 26, pp. 1701-1718
Ali, M., Cox, T. M., Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance (1995) Am J Hum Genet, 56, pp. 1002-100
Antonorakis, S. E., Krawczak, M., Cooper, D. N., The genetic basis of human cancer (2000) The nature and mechanisms of human gene mutation, , In: Vogelstein B, Kinzler KW, editors. New York: McGraw Hill
Brooks, C. C., Buist, N., Tuerck, J., Tolan, D. R., Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance (1991) Am J Hum Genet, 49, pp. 1075-1081
Brooks, C. C., Tolan, D. R., A partially active mutant aldolase B from a patient with hereditary fructose intolerance (1994) FASEB J, 8, pp. 107-113
Catto-Smith, A. G., Adams, A., A possible case of transient hereditary fructose intolerance (1993) J Inherit Metab Dis, 16, pp. 73-77
Choi, K. H., Mazurkie, A. S., Morris, A. J., Utheza, D., Tolan, D. R., Allen, K. A., Structure of a fructose-1, 6-bis (phosphate) aldolase liganded to its natural substrate in a cleavage-defective mutant at 2. 3 (1999) Biochemistry, 38, pp. 12655-12664
Choi, K. H., Shi, J., Hopkins, C. E., Tolan, D. R., Allen, K. N., Snapshots of catalysis: the structure of fructose-1, 6- (bis) phosphate aldolase covalently bound to the substrate dihydroxyacetone phosphate (2001) Biochemistry, 40, pp. 13868-13875
Choi, Y. K., Johlin, F. C., Summers, R. W., Jackson, M., Rao, S. S. C., Fructose intolerance: an under-recognized problem (2003) Am J Gastroenterol, 98, pp. 1348-1353
Coffee, E. M., Yerkes, L., Ewen, E. P., Zee, T., Tolan, D. R., Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population (2009) J Inherit Metab Dis, 33, pp. 33-42
Cox, T. M., The genetic consequences of our sweet tooth (2002) Nat Rev Genet, 3, pp. 481-487
Cross, N. C., Cox, T. M., Partial aldolase B gene deletion in hereditary fructose intolerance (1990) Am J Hum Genet, 47, pp. 101-106
Cross, N. C., Stojanov, L. M., Cox, T. M., A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia (1990) Nucleic Acids Res, 18, p. 1925
Cross, N. C., Tolan, D. R., Cox, T. M., Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation (1988) Cell, 53, pp. 881-885
Dalby, R. D., Tolan, D. R., Littlechild, J. A., The structure of human liver fructose-1, 6-bisphosphate aldolase (2001) Acta Cryst D Biol Crystallogr, 57, pp. 1526-1533
Hutchinson, E. G., Thornton, J. M., PROMOTIF-a program to identify and analyze structural motifs in proteins (1996) Protein Sci, 5, pp. 212-220
James, C. L., Rellos, P., Ali, M., Heeley, A. F., Cox, T. M., Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population (1996) J Med Genet, 33, pp. 837-841
Jones, T. A., Zou, J. Y., Cowan, S. W., Kjeldgaard, M., Improved methods for building proteins models in electron density maps and the location of errors in these models (1991) Acta Crystallogr sect A, 47, pp. 110-119
Kriegsh user, G., Halsall, D., Rauscher, B., Oberkanins, C., Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance (2007) Mol Cell Probes, 21, pp. 226-228
Laskowski, R. A., MacArthur, M. W., Moss, D. S., Thornton, J. M., PROCHECK: a program to check the stereochemical quality of protein structures (1993) J Appl Crystallogr, 26, pp. 283-291
Malay, A. D., Allen, K. N., Tolan, D. R., Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance (2005) J Mol Biol, 347, pp. 135-144
Pezza, J. A., Choi, K. H., Berardini, T. Z., Beernink, P. T., Allen, K. N., Tolan, D. R., Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose-1, 6-bisphosphate aldolase (2003) J Biol Chem, 278, pp. 17907-17919
Stenson, P. D., Ball, E. V., Mort, M., Phillips, A. D., Shiel, J. A., Thomas, N. S., Abeysinghe, S., Cooper, D. N., The Human Gene Mutation Database (HGMD): 2003 update (2003) Hum Mutat, 21, pp. 577-581
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2010 Dec; 31(12): 1294-1303.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 5.956, 5-year impact factor: 6.212
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-78649595331&partnerID=40&md5=cbaebf995a0ca80bcd4bb00d789f3748
Keywords: Aldob Kinetic Analysis, Aldob Molecular Modeling, Hfi Molecular Diagnosis, Hfi Molecular Epidemiology, Intragenic Deletion, Missense Mutations, Fructose Bisphosphate Aldolase, Allele, Article, Case Report, Catalysis, Child, Female, Gene Deletion, Gene Sequence, Genetic Variability, Hereditary Fructose Intolerance, Human, Nucleotide Sequence, Priority Journal, School Child, Site Directed Mutagenesis, Symptom, Base Sequence, Circular Dichroism, Fatal Outcome, Fructose-Bisphosphate Aldolase, Gene Frequency, Infant, Molecular Sequence Data, Pedigree, Protein Structure, Secondary, Recombinant Proteins,
Affiliations:
*** IBB - CNR ***
CEINGE-Biotecnologie Avanzate S.C.a r.l., Napoli, Italy
Dipartimento di Biochimica e Biotecnologie Mediche, Università degli Studi di Napoli Federico II Napoli, Italy
IRCCS-Fondazione SDN, Via E. Gianturco 113, 80143 Napoli, Italy
Unità Operativa di Pediatria, Ospedale S. Giovanni di Dio, Agrigento, Italy
Dipartimento di Pediatria, Università degli Studi di Napoli Federico II Napoli, Italy
Clinica Pediatrica, Ospedale S. Gerardo, Monza, Italy
Istituto di Biostrutture e Bioimmagini, CNR, Napoli, Italy
Dipartimento delle Scienze Biologiche-Sezione Biostrutture e CNISM, Università degli Studi di Napoli Federico II Napoli, Italy
Unit Operativa di Pediatria, Ospedale S. Giovanni di Dio, Agrigento, Italy
References:
Ali, M., Cox, T.M., Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance (1995) Am J Hum Genet, 56, pp. 1002-100
Ali, M., Rellos, P., Cox, T., Hereditary fructose intolerance (1998) J Med Genet, 35, pp. 353-365
Ali, M., Rosien, U., Cox, T.M., DNA diagnosis of fatal fructose intolerance from archival tissue (1993) Q J Med, 86, pp. 25-30
Ali, M., Sebastio, G., Cox, T.M., Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated with hereditary fructose intolerance (1994) Hum Mol Genet, 3, pp. 203-204
Ali, M., Tuncman, G., Cross, N., Vidailhet, M., Bokesoy, I., Gitzelmann, R., Cox, T.M., Null alleles of the aldolase B gene in patients with hereditary fructose intolerance (1994) J Med Genet, 31, pp. 499-503
Antonorakis, S.E., Krawczak, M., Cooper, D.N., The genetic basis of human cancer (2000) The nature and mechanisms of human gene mutation, , In: Vogelstein B, Kinzler KW, editors. New York: McGraw Hill
Blom, N., Sygusch, J., Product binding and role of the C-terminal region in class I D-fructose 1,6-bisphosphate aldolase (1997) Nat Struct Biol, 4, pp. 36-39
Brooks, C.C., Buist, N., Tuerck, J., Tolan, D.R., Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance (1991) Am J Hum Genet, 49, pp. 1075-1081
Brooks, C.C., Tolan, D.R., A partially active mutant aldolase B from a patient with hereditary fructose intolerance (1994) FASEB J, 8, pp. 107-113
Catto-Smith, A.G., Adams, A., A possible case of transient hereditary fructose intolerance (1993) J Inherit Metab Dis, 16, pp. 73-77
Choi, K.H., Mazurkie, A.S., Morris, A.J., Utheza, D., Tolan, D.R., Allen, K.A., Structure of a fructose-1,6-bis(phosphate) aldolase liganded to its natural substrate in a cleavage-defective mutant at 2.3 Å (1999) Biochemistry, 38, pp. 12655-12664
Choi, K.H., Shi, J., Hopkins, C.E., Tolan, D.R., Allen, K.N., Snapshots of catalysis: the structure of fructose-1,6-(bis)phosphate aldolase covalently bound to the substrate dihydroxyacetone phosphate (2001) Biochemistry, 40, pp. 13868-13875
Choi, Y.K., Johlin, F.C., Summers, R.W., Jackson, M., Rao, S.S.C., Fructose intolerance: an under-recognized problem (2003) Am J Gastroenterol, 98, pp. 1348-1353
Coffee, E.M., Yerkes, L., Ewen, E.P., Zee, T., Tolan, D.R., Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population (2009) J Inherit Metab Dis, 33, pp. 33-42
Cox, T.M., The genetic consequences of our sweet tooth (2002) Nat Rev Genet, 3, pp. 481-487
Cross, N.C., Cox, T.M., Partial aldolase B gene deletion in hereditary fructose intolerance (1990) Am J Hum Genet, 47, pp. 101-106
Cross, N.C., Stojanov, L.M., Cox, T.M., A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia (1990) Nucleic Acids Res, 18, p. 1925
Cross, N.C., Tolan, D.R., Cox, T.M., Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation (1988) Cell, 53, pp. 881-885
Dalby, R.D., Tolan, D.R., Littlechild, J.A., The structure of human liver fructose-1,6-bisphosphate aldolase (2001) Acta Cryst D Biol Crystallogr, 57, pp. 1526-1533
Davit-Spraul, A., Costa, C., Zater, M., Habes, D., Berthelot, J., Broué, P., Feillet, F., Baussan, C., Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France-identification of eight new mutations (2008) Mol Genet Metab, 94, pp. 443-447
Dazzo, C., Tolan, D.R., Molecular evidence for compound heterozygosity in hereditary fructose intolerance (1990) Am J Hum Genet, 46, pp. 1194-1199
Dursun, A., Kalkanoǧlu, H.S., Coşkun, T., Tokatli, A., Bittner, R., Koçak, N., Yüce, A., Boehme, H.J., Mutation analysis in Turkish patients with hereditary fructose intolerance (2001) J Inherit Metab Dis, 24, pp. 523-526
Esposito, G., Santamaria, R., Vitagliano, L., Ieno, L., Viola, A., Fiori, L., Parenti, G., Salvatore, F., Six novel alleles identified in italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene (2004) Hum Mutat, 24, p. 534
Esposito, G., Vitagliano, L., Cevenini, A., Amelio, T., Zagari, A., Salvatore, F., Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child (2005) Blood, 105, pp. 905-906
Gruchota, J., Pronicka, E., Korniszewski, L., Stolarski, B., Pollak, A., Rogaszewska, M., Ploski, R., Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population (2006) Mol Genet Metab, 87, pp. 376-378
Hutchinson, E.G., Thornton, J.M., PROMOTIF-a program to identify and analyze structural motifs in proteins (1996) Protein Sci, 5, pp. 212-220
James, C.L., Rellos, P., Ali, M., Heeley, A.F., Cox, T.M., Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population (1996) J Med Genet, 33, pp. 837-841
Jones, T.A., Zou, J.Y., Cowan, S.W., Kjeldgaard, M., Improved methods for building proteins models in electron density maps and the location of errors in these models (1991) Acta Crystallogr sect A, 47, pp. 110-119
Kajihara, S., Mukai, T., Arai, Y., Owada, M., Kitagawa, T., Hori, K., Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene (1990) Am J Hum Genet, 47, pp. 562-567
Kriegshäuser, G., Halsall, D., Rauscher, B., Oberkanins, C., Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance (2007) Mol Cell Probes, 21, pp. 226-228
Kullberg-Lindh, C., Hannoun, C., Lindh, M., Simple method for detection of mutations causing hereditary fructose intolerance (2002) J Inherit Metab Dis, 25, pp. 571-575
Laskowski, R.A., MacArthur, M.W., Moss, D.S., Thornton, J.M., PROCHECK: a program to check the stereochemical quality of protein structures (1993) J Appl Crystallogr, 26, pp. 283-291
Malay, A.D., Allen, K.N., Tolan, D.R., Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance (2005) J Mol Biol, 347, pp. 135-144
Miller, A., Adeli, K., Dietary fructose and the metabolic syndrome (2008) Curr Opin Gastroenterol, 24, pp. 204-209
Pezza, J.A., Choi, K.H., Berardini, T.Z., Beernink, P.T., Allen, K.N., Tolan, D.R., Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose-1,6-bisphosphate aldolase (2003) J Biol Chem, 278, pp. 17907-17919
Rellos, P., Sygusch, J., Cox, T.M., Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis (2000) J Biol Chem, 275, pp. 1145-1151
Salvatore, F., Izzo, P., Paolella, G., Horizons in biochemistry biophysics (1986) Aldolase gene and protein families: structure, expression and pathophysiology, 8, pp. 611-665. , In: Blasi F, editor., New York: John Wiley and Sons
Sanchez-Gutierrez, J.C., Benlloch, T., Leal, M.A., Samper, B., Garcia-Ripoll, I., Feliu, J.E., Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain (2002) J Med Genet, 39, pp. e56
Santamaria, R., Esposito, G., Vitagliano, L., Race, V., Paglionico, I., Zancan, L., Zagari, A., Salvatore, F., Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase (2000) Biochem J, 350, pp. 823-828
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Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion
Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene. Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. The residual catalytic activity of the recombinant p.R46W and p.Y343H variants toward F1P was particularly altered. We also characterized a large intragenic deletion that we found in six unrelated patients. This is the first report of six unrelated patients sharing the same ALDOB deletion, thus indicating a founder effect for this allele in our geographic area. Because this deletion involves ALDOB exon 5, it can mimic worldwide common pathogenic genotypes, that is, homozygous p.A150P and p.A175D. Finally, the identification of only one ALDOB mutation in symptomatic patients suggests that HFI symptoms can, albeit rarely, appear also in heterozygotes. Therefore, an excessive and continuous fructose dietary intake may have deleterious effects even in apparently asymptomatic HFI carriers. Hum Mutat 31:1294-1303, 2010. (c) 2010Wiley-Liss, Inc.
Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene. Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. The residual catalytic activity of the recombinant p.R46W and p.Y343H variants toward F1P was particularly altered. We also characterized a large intragenic deletion that we found in six unrelated patients. This is the first report of six unrelated patients sharing the same ALDOB deletion, thus indicating a founder effect for this allele in our geographic area. Because this deletion involves ALDOB exon 5, it can mimic worldwide common pathogenic genotypes, that is, homozygous p.A150P and p.A175D. Finally, the identification of only one ALDOB mutation in symptomatic patients suggests that HFI symptoms can, albeit rarely, appear also in heterozygotes. Therefore, an excessive and continuous fructose dietary intake may have deleterious effects even in apparently asymptomatic HFI carriers. Hum Mutat 31:1294-1303, 2010. (c) 2010Wiley-Liss, Inc.
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion
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