메뉴 건너뛰기




Volumn 85, Issue 2, 2010, Pages 170-173

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene

Author keywords

chronic haemolytic anaemia; erythrocyte metabolism; mutations; TPI gene; triose phosphate isomerase deficiency

Indexed keywords

ASPARTIC ACID; BILIRUBIN; GLUTAMIC ACID; HEMOGLOBIN; PHENYLALANINE DERIVATIVE; SERINE DERIVATIVE; TRIOSEPHOSPHATE ISOMERASE;

EID: 77954721069     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2010.01451.x     Document Type: Article
Times cited : (11)

References (21)
  • 1
    • 0006621781 scopus 로고    scopus 로고
    • Aldose ketose isomerases
    • Boyer, P.D. ed.
    • Noltmann EA. Aldose ketose isomerases. In : Boyer PD, ed. The Enzymes, Vol. 6.
    • The Enzymes , vol.6
    • Noltmann, E.A.1
  • 2
    • 0021885041 scopus 로고
    • Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family
    • Brown JR, Daar IO, Krug JR, Maquat LE. Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family. Mol Cell Biol 1995 5 : 1694 1706.
    • (1995) Mol Cell Biol , vol.5 , pp. 1694-1706
    • Brown, J.R.1    Daar, I.O.2    Krug, J.R.3    Maquat, L.E.4
  • 4
    • 0003631609 scopus 로고
    • A new erythrocyte enzyme defect with hemolytic anemia: Triosephosphate isomerase (TPI) disease
    • Schneider AS, Valentine WN, Hattori M, Heins HL Jr. A new erythrocyte enzyme defect with hemolytic anemia: triosephosphate isomerase (TPI) disease. Blood 1964 24 : 855 856.
    • (1964) Blood , vol.24 , pp. 855-856
    • Schneider, A.S.1    Valentine, W.N.2    Hattori, M.3    Heins Jr., H.L.4
  • 5
    • 0034431493 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency: Historical perspectives and molecular aspects
    • Schneider AS. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Baillieres Best Pract Res Clin Haematol 2000 13 : 119 140.
    • (2000) Baillieres Best Pract Res Clin Haematol , vol.13 , pp. 119-140
    • Schneider, A.S.1
  • 6
    • 0003265754 scopus 로고
    • Molecular pathology of human triosephosphate isomerase
    • Arya R, Lalloz MRA, Bellingham AJ, Layton DM. Molecular pathology of human triosephosphate isomerase. Blood 1986 86 (Suppl. 1 585a.
    • (1986) Blood , vol.86 , Issue.SUPPL. 1
    • Arya, R.1    Lalloz, M.R.A.2    Bellingham, A.J.3    Layton, D.M.4
  • 7
    • 0027490726 scopus 로고
    • Hereditary triosephosphate isomerase (TPI) deficiency: Two severely affected brothers one with and one without neurological symptoms
    • Hollán S, Fujii H, Hirono A, Hirono K, Karro H, Miwa S, Harsányi V, Gyódi E, Inselt-Kovács M. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms. Hum Genet 1993 92 : 486 490.
    • (1993) Hum Genet , vol.92 , pp. 486-490
    • Hollán, S.1    Fujii, H.2    Hirono, A.3    Hirono, K.4    Karro, H.5    Miwa, S.6    Harsányi, V.7    Gyódi, E.8    Inselt-Kovács, M.9
  • 8
    • 0021798915 scopus 로고
    • Neurological findings in triosephosphate isomerase deficiency
    • Poll-The BT, Aicardi J, Girot R, Rosa R. Neurological findings in triosephosphate isomerase deficiency. Ann Neurol 1985 17 : 439 443.
    • (1985) Ann Neurol , vol.17 , pp. 439-443
    • Poll-The, B.T.1    Aicardi, J.2    Girot, R.3    Rosa, R.4
  • 9
    • 0000790027 scopus 로고
    • Hereditary hemolytic anemia with triosephosphate isomerase deficiency
    • Schneider AS, Valentine WN, Hattori M, Heins JR. Hereditary hemolytic anemia with triosephosphate isomerase deficiency. N Engl J Med 1965 272 : 229 235.
    • (1965) N Engl J Med , vol.272 , pp. 229-235
    • Schneider, A.S.1    Valentine, W.N.2    Hattori, M.3    Heins, J.R.4
  • 10
    • 0034254248 scopus 로고    scopus 로고
    • Triose phosphate isomerase deficiency in 3 French families: Two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris)
    • Valentin C, Pissard S, Martin J, et al. Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris). Blood 2000 96 : 1130 1135.
    • (2000) Blood , vol.96 , pp. 1130-1135
    • Valentin, C.1    Pissard, S.2    Martin, J.3
  • 11
    • 35148860196 scopus 로고    scopus 로고
    • Novel human pathological mutations. Gene symbol: TPI1. Disease: Triosephosphate isomerase deficiency
    • Manco L, Ribeiro ML. Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency. Hum Genet 2007 121 : 650.
    • (2007) Hum Genet , vol.121 , pp. 650
    • Manco, L.1    Ribeiro, M.L.2
  • 12
    • 0029563627 scopus 로고
    • Triosephosphate isomerase deficiency: Repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families
    • Schneider A, Westwood B, Yim C, Prchal J, Berkow R, Labotka R, Warrier R, Beutler E. Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. Am J Hematol 1995 50 : 263 268.
    • (1995) Am J Hematol , vol.50 , pp. 263-268
    • Schneider, A.1    Westwood, B.2    Yim, C.3    Prchal, J.4    Berkow, R.5    Labotka, R.6    Warrier, R.7    Beutler, E.8
  • 15
    • 4243947239 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency: Two Italian cases associated to mutation 104 (315 G>C, 105 Glu>Asp)
    • Baronciani L, Bianchi P, Bredi E, Pelissero G, Iurlo A, Zanella A. Triosephosphate isomerase deficiency: two Italian cases associated to mutation 104 (315 G>C, 105 Glu>Asp). Blood 1996 88 (Suppl. 1 5b.
    • (1996) Blood , vol.88 , Issue.SUPPL. 1
    • Baronciani, L.1    Bianchi, P.2    Bredi, E.3    Pelissero, G.4    Iurlo, A.5    Zanella, A.6
  • 19
    • 72149120003 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency: New insights into an enigmatic disease
    • Orosz F, Oláh J, Ovádi J. Triosephosphate isomerase deficiency: new insights into an enigmatic disease. Biochim Biophys Acta 2009 1792 : 1168 1174.
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 1168-1174
    • Orosz, F.1    Oláh, J.2    Ovádi, J.3
  • 21
    • 0035892130 scopus 로고    scopus 로고
    • Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: Molecular basis of enzyme deficiency
    • Orosz F, Oláh J, Alvarez M, et al. Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. Blood 2001 98 : 3106 3112.
    • (2001) Blood , vol.98 , pp. 3106-3112
    • Orosz, F.1    Oláh, J.2    Alvarez, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.