Aldolase B

Esposito G et al. (2002) Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

Brooks CC et al. (1993) Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.

Pilz A et al. (1993) Linkage mapping of the Aldo-2, Pax-5, Ambp, and D4h9S3E loci on mouse chromosome 4 in the region of homology with human chromosome 9.

Rottmann WH et al. (1984) Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.

Hibi N et al. (1986) Human monoclonal antibody recognizing liver-type aldolase B.

Paolella G et al. (1986) Human aldolase B cDNA detects a Pvu II RFLP in healthy individuals.

Tolan DR et al. (1986) Characterization of the human aldolase B gene.

Henry I et al. (1985) The structural gene for aldolase B (ALDB) maps to 9q13----32.

Munnich A et al. (1985) Dietary and hormonal regulation of aldolase B gene expression.

Dazzo C et al. (1990) Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

Cross NC et al. (1990) A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

Brooks CC et al. (1991) Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

Dursun A et al. (2001) Mutation analysis in Turkish patients with hereditary fructose intolerance.

Rellos P et al. (2000) Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis.

Ali M et al. (1998) Hereditary fructose intolerance.

Jaeken J et al. (1996) Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

Ali M et al. (1994) Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

Santamaria R et al. () Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.

Davit-Spraul A et al. (2008) Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Sebastio G et al. (1991) Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Cross NC et al. (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance.

Esposito G et al. (2010) Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Kajihara S et al. (1990) Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.

Cross NC et al. (1990) Partial aldolase B gene deletions in hereditary fructose intolerance.

Cross NC et al. (1989) Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.

Paolella G et al. (1987) Mapping of a restriction fragment length polymorphism within the human aldolase B gene.

Cross NC et al. (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

Nordmann Y et al. (1968) A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.

Kranhold JF et al. (1969) Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.

Ali M et al. (1995) Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.

None (1995) Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

NCBI article

OMIM.ORG article

Orphanet article