Genetics Diagnosis of Hereditary Fructose Intolerance

Tolan, Dean R.

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Type: Research Project (R01)
• Project #: 2R01DK043521-05
• Application #: 2143047
• Study Section: Medical Biochemistry Study Section (MEDB)
• Project Start: 1992-05-01
• Project End: 2000-08-31
• Budget Start: 1996-09-30
• Budget End: 1997-08-31
• Support Year: 5
• Fiscal Year: 1996

Institution

• Name: Boston University
• Type: Schools of Arts and Sciences
• DUNS #: 604483045
• City: Boston
• State: MA
• Country: United States
• Zip Code: 02118

Publications

Funari, Vincent A; Voevodski, Konstantin; Leyfer, Dimitry et al. (2010) Quantitative gene expression profiles in real time from expressed sequence tag databases. Gene Expr 14:321-36

Choi, Kyung H; Lai, Vicky; Foster, Christine E et al. (2006) New superfamily members identified for Schiff-base enzymes based on verification of catalytically essential residues. Biochemistry 45:8546-55

Hopkins, Christopher E; Hernandez, Gonzalo; Lee, Jonathan P et al. (2005) Aminoethylation in model peptides reveals conditions for maximizing thiol specificity. Arch Biochem Biophys 443:1-10

Malay, Ali D; Allen, Karen N; Tolan, Dean R (2005) Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. J Mol Biol 347:135-44

Funari, Vincent A; Herrera, Victoria L M; Freeman, Daniel et al. (2005) Genes required for fructose metabolism are expressed in Purkinje cells in the cerebellum. Brain Res Mol Brain Res 142:115-22

Choi, Kyung H; Tolan, Dean R (2004) Presteady-state kinetic evidence for a ring-opening activity in fructose-1,6-(bis)phosphate aldolase. J Am Chem Soc 126:3402-3

Yao, David C; Tolan, Dean R; Murray, Michael F et al. (2004) Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). Blood 103:2401-3

Tolan, Dean R; Schuler, Benjamin; Beernink, Peter T et al. (2003) Thermodynamic analysis of the dissociation of the aldolase tetramer substituted at one or both of the subunit interfaces. Biol Chem 384:1463-71

Malay, Ali D; Procious, Sheri L; Tolan, Dean R (2002) The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. Arch Biochem Biophys 408:295-304

Choi, K H; Shi, J; Hopkins, C E et al. (2001) Snapshots of catalysis: the structure of fructose-1,6-(bis)phosphate aldolase covalently bound to the substrate dihydroxyacetone phosphate. Biochemistry 40:13868-75