2001
DOI: 10.1046/j.1365-2141.2001.02711.x
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Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

Abstract: We studied the PK‐LR gene in 16 unrelated patients with congenital haemolytic anaemia associated with erythrocyte pyruvate kinase deficiency. Fifteen different mutations were detected among the 28 mutated alleles identified: two deletions (del 1010G, del 1042–1044); one four nucleotide duplication (nt 1515–1518, GGTC); one splice site [IVS6(−2)t]; nine missense (991A, 1003A, 1151T, 1160G, 1181T, 1181A, 1456T, 1483A, 1529A); and two nonsense (721T, 1675T) mutations. Eight of them [del 1010G, del 1042–1044, dupl… Show more

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Cited by 35 publications
(45 citation statements)
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“…Amino acid substitutions in the B domain are rare and only seven mutations have been described thus far Kugler et al, 2000;Neubauer et al, 1991;Pissard et al, 2006;Zanella et al, 1997]. The side chain of Arg163 points into the cleft between the A and B domains where the active site is located.…”
Section: The Novel Pgly111arg Pk Variant Is Prevalent In the Dutch Pmentioning
confidence: 99%
“…Amino acid substitutions in the B domain are rare and only seven mutations have been described thus far Kugler et al, 2000;Neubauer et al, 1991;Pissard et al, 2006;Zanella et al, 1997]. The side chain of Arg163 points into the cleft between the A and B domains where the active site is located.…”
Section: The Novel Pgly111arg Pk Variant Is Prevalent In the Dutch Pmentioning
confidence: 99%
“…23 Two patients carrying the R510Q mutation have been followed and characterized by us (see Zanella et al 19,33 ). A summary of the relevant biochemical data concerning RPK of these patients is reported in Table 3.…”
Section: Thermal Stability Of Wild-type and Mutant Proteinsmentioning
confidence: 99%
“…In addition, contamination with the isozyme from leukocytes and presence of hybrid enzyme from heterozygous or compound heterozygous patients also hamper the enzymatic characterization. Although detection of mutations at the gene level has been advancing rapidly, 17,19,21,22 the lack of protein characterization makes it difficult to predict the phenotypic consequence of specific mutations. To analyze the mutations at the protein level and eventually to elucidate the protein crystal structure, we cloned the full-length human R-type PK complementary DNA (cDNA) and expressed, purified, and characterized the recombinant enzyme.…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…9 Hundreds of mutations, most of which are single nucleotide missense mutations, have been described, which can have deleterious effects on PK-R catalytic activity, protein stability, or protein expression. 6 For example, the R486W mutation, present in ;25% of patients with PK deficiency in southern Europe, 10 is thought to affect the catalytic efficiency of the enzyme, and the R510Q mutation, found in ;40% of northern European patients with PK deficiency, significantly destabilizes the active tetrameric species. 11 PK deficiency is an autosomal recessive disease, and patients are either homozygous, or more commonly, compound heterozygous for 2 mutant PK-R (mtPK-R) alleles.…”
Section: Introductionmentioning
confidence: 99%