메뉴 건너뛰기




Volumn 13, Issue 1, 2000, Pages 119-140

Triosephosphate isomerase deficiency: Historical perspectives and molecular aspects

Author keywords

Enzyme replacement; Haplotypes; Hereditary haemolytic anaemia; Membrane lipids; Mutations; Neuromuscular degeneration; Structure function; Triosephosphate isomerase

Indexed keywords

ASPARTIC ACID; GLUTAMIC ACID; GLUTATHIONE; TRIOSEPHOSPHATE ISOMERASE;

EID: 0034431493     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1053/beha.2000.0061     Document Type: Article
Times cited : (105)

References (106)
  • 3
    • 0000393830 scopus 로고
    • Autohemolysis and other changes resulting from incubation in vitro of red cells from patients with congenital hemolytic anemia
    • (1954) Blood , vol.9 , pp. 414-438
    • Selwyn, J.G.1    Dacie, J.V.2
  • 40
    • 4243411836 scopus 로고
    • Stable clinical course in a child with severe triose phosphate isomerase (TPI) deficiency managed with supportive care
    • (1988) Blood , vol.72 , Issue.SUPPL. 1
    • Dampier, C.1
  • 44
    • 85058252237 scopus 로고
    • A unique experiment of nature (a 21 yr old symptom free homozygote for triose phosphate isomerase [TPI] deficiency)
    • (1990) Blood , vol.76 , Issue.SUPPL. 1
    • Hollán, S.1    Miwa, S.2    Fujii, H.3
  • 45
  • 47
    • 0025909126 scopus 로고
    • Triosephosphate isomerase deficiency: Haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity
    • (1991) European Journal of Pediatrics , vol.150 , pp. 761-766
    • Eber, S.W.1    Pekrun, A.2    Bardosi, A.3
  • 65
    • 0029330286 scopus 로고
    • When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
    • (1995) RNA , vol.1 , pp. 453-465
    • Maquat, L.E.1
  • 66
    • 4243651636 scopus 로고
    • New case of codon 104 (Glu → Asp) mutation in homozygous triose phosphate isomerase deficiency and possible prenatal diagnosis of this disease
    • (1988) Blood , vol.72
    • Elouet, J.F.1    Raich, N.2    Rosa, J.3
  • 69
    • 4243947239 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency: Two Italian cases associated to mutation 104 (315G → C, 105 Glu → Asp)
    • (1996) Blood , vol.88 , Issue.SUPPL. 1
    • Baronciani, L.1    Bianchi, P.2    Bredi, E.3
  • 70
  • 75
    • 0003324744 scopus 로고    scopus 로고
    • Decrease in non-bilayer forming lipid composition of lymphocytes in triosephosphate isomerase (TPI) deficiency
    • (1997) Blood , vol.90 , Issue.SUPPL. 1
    • Hollán, S.1    Fodor, E.2    Horányi, M.3
  • 78
    • 85058250812 scopus 로고    scopus 로고
    • Chronic oxydative stress in triosephosphate isomerase deficiency and its role in the neurodegenerative process
    • (1998) Blood , vol.92 , Issue.SUPPL. 1
    • Hollán, S.1    Karg, E.2    Német, I.3
  • 87
    • 85058250623 scopus 로고
    • Triose phosphate isomerase (TPI) deficiency due to point mutation in amino acid 104: Two previously undescribed families
    • (1994) Blood , vol.84 , Issue.SUPPL. 1
    • Schneider, A.1    Westwood, B.2    Prchal, J.3
  • 89
    • 4243612644 scopus 로고
    • The amino acid 104 mutation in triosephosphate isomerase (TPI) deficiency: Evidence for a single mutation in a common ancestor of seemingly unrelated families
    • (1995) Blood , vol.86 , Issue.SUPPL. 1
    • Schneider, A.1    Westwood, B.2    Yim, C.3
  • 95
    • 85031515694 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency in three French families: Compound heterozygosity for the frameshift mutation (TPI Alfortville) with the frequent E105D mutation, an alteration in the initiation codon (TPI frequent promoter polymorphism, and homozygosity for the E105D mutation
    • (submitted for publication).
    • Valentin, C.1    Pissard, S.2    Martin, J.3
  • 97
    • 4243401833 scopus 로고    scopus 로고
    • Hereditary hemolytic anemia with triosephosphate isomerase (TPI) deficiency: Assignment of the known mutation sites to functional molecular domains of the enzyme protein
    • (1997) FASEB Journal , vol.11
    • Halfman, C.1    Schneider, A.2
  • 99
    • 85058252345 scopus 로고    scopus 로고
    • New insights into the interrelationships of the -5, -8 and -24 mutations with triosephosphate isomerase (TPI) deficiency
    • (1997) Blood , vol.90 , Issue.SUPPL. 1
    • Schneider, A.1    Forman, L.2    Westwood, B.3
  • 100
    • 0032532355 scopus 로고    scopus 로고
    • The relationship of the -5, -8, and -24 variant alleles in African Americans to triosephosphate isomerase (TPI) enzyme activity and to TPI deficiency
    • (1998) Blood , vol.92 , pp. 2959-2962
    • Schneider, A.1    Forman, L.2    Westwood, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.