메뉴 건너뛰기




Volumn 269, Issue 21, 2002, Pages 5149-5156

BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro. Implications in the BIGH3-linked corneal dystrophies

Author keywords

Amyloidosis; Granular corneal dystrophy; Keratoepithelin; Lattice corneal dystrophy; Synthetic peptide

Indexed keywords

AMYLOID; ARGININE; CYSTEINE; DISULFIDE; HISTIDINE; MUTANT PROTEIN; PEPTIDE; TRANSFORMING GROWTH FACTOR BETA; VALINE;

EID: 0036431646     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1033.2002.03205.x     Document Type: Article
Times cited : (32)

References (26)
  • 2
    • 0026783009 scopus 로고
    • cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta
    • Skonier, J., Neubauer, M., Madisen, L., Bennett, K., Plowman, G.D. & Purchio, A.F. (1992) cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell. Biol. 11, 511-522.
    • (1992) DNA Cell. Biol. , vol.11 , pp. 511-522
    • Skonier, J.1    Neubauer, M.2    Madisen, L.3    Bennett, K.4    Plowman, G.D.5    Purchio, A.F.6
  • 3
    • 0034613378 scopus 로고    scopus 로고
    • Identification of motifs for cell adhesion within the repeated domains of transforming growth factor-beta-induced gene, beta ig-h3
    • Kim, J.E., Kim, S.J., Lee, B.H., Park, R.W., Kim, K.S. & Kim, I.S. (2000) Identification of motifs for cell adhesion within the repeated domains of transforming growth factor-beta-induced gene, beta ig-h3. J. Biol. Chem. 275, 30907-30915.
    • (2000) J. Biol. Chem. , vol.275 , pp. 30907-30915
    • Kim, J.E.1    Kim, S.J.2    Lee, B.H.3    Park, R.W.4    Kim, K.S.5    Kim, I.S.6
  • 8
    • 0031682083 scopus 로고    scopus 로고
    • A new L527R mutation of the beta igh3 gene in patients with lattice corneal dystrophy with deep stromal opacities
    • Fujiki, K., Hotta, Y., Nakayasu, K., Yokoyama, T., Takano, T., Yamaguchi, T. & Kanai, A. (1998) A new L527R mutation of the beta igh3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum. Genet. 103, 286-289.
    • (1998) Hum. Genet. , vol.103 , pp. 286-289
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3    Yokoyama, T.4    Takano, T.5    Yamaguchi, T.6    Kanai, A.7
  • 9
    • 0032222723 scopus 로고    scopus 로고
    • A common βig-h3 gene mutation (δf540) in a large cohort of sardinian Reis-Bücklers corneal dystrophy patients
    • Rozzo, C., Fossarello, M., Galleri, G., Sole, G., Serru, A., Orzalesi, N., Serra, A. & Pirastu, M. (1998) A common big-h3 gene mutation (δf540) in a large cohort of sardinian Reis-Bücklers corneal dystrophy patients. Hum. Mut. 12, 215-216.
    • (1998) Hum. Mut. , vol.12 , pp. 215-216
    • Rozzo, C.1    Fossarello, M.2    Galleri, G.3    Sole, G.4    Serru, A.5    Orzalesi, N.6    Serra, A.7    Pirastu, M.8
  • 12
    • 0032799821 scopus 로고    scopus 로고
    • Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene - Lessons for corneal amyloidogenesis
    • Stewart, H.S., Ridgway, A.E., Dixon, M.J., Bonshek, R., Parveen, R. & Black, G. (1999) Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene - Lessons for corneal amyloidogenesis. Hum. Mut. 14, 126-132.
    • (1999) Hum. Mut. , vol.14 , pp. 126-132
    • Stewart, H.S.1    Ridgway, A.E.2    Dixon, M.J.3    Bonshek, R.4    Parveen, R.5    Black, G.6
  • 13
    • 0032929438 scopus 로고    scopus 로고
    • A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
    • Mashima, Y., Nakamura, Y., Noda, K., Konishi, M., Yamada, M., Kudoh, J. & Shimizu, N. (1999) A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch. Ophthalmol. 117, 90-93.
    • (1999) Arch. Ophthalmol. , vol.117 , pp. 90-93
    • Mashima, Y.1    Nakamura, Y.2    Noda, K.3    Konishi, M.4    Yamada, M.5    Kudoh, J.6    Shimizu, N.7
  • 15
    • 0025103048 scopus 로고
    • A cleavage method which minimizes side reactions following Fmoc solid phase peptide synthesis
    • King, D.S., Fields, C.G. & Fields, G.B. (1990) A cleavage method which minimizes side reactions following Fmoc solid phase peptide synthesis. Int. J. Pept. Protein Res. 36, 255-266.
    • (1990) Int. J. Pept. Protein Res. , vol.36 , pp. 255-266
    • King, D.S.1    Fields, C.G.2    Fields, G.B.3
  • 16
    • 0024509805 scopus 로고
    • Fluorometric determination of amyloid fibrils in vitro using the fluorescent dye, thioflavin T1
    • Naiki, H., Higuchi, K., Hosokawa, M. & Takeda, T. (1989) Fluorometric determination of amyloid fibrils in vitro using the fluorescent dye, thioflavin T1. Anal. Biochem. 177, 244-249.
    • (1989) Anal. Biochem. , vol.177 , pp. 244-249
    • Naiki, H.1    Higuchi, K.2    Hosokawa, M.3    Takeda, T.4
  • 17
    • 0035942986 scopus 로고    scopus 로고
    • Apolipoprotein E inhibits the depolymerization of beta 2-microglobulin-related amyloid fibrils at a neutral pH
    • Yamaguchi, I., Hasegawa, K., Takahashi, N., Gejyo, F. & Naiki, H. (2001) Apolipoprotein E inhibits the depolymerization of beta 2-microglobulin-related amyloid fibrils at a neutral pH. Biochemistry 40, 8499-8507.
    • (2001) Biochemistry , vol.40 , pp. 8499-8507
    • Yamaguchi, I.1    Hasegawa, K.2    Takahashi, N.3    Gejyo, F.4    Naiki, H.5
  • 18
    • 0028062558 scopus 로고
    • Analysis of polypeptide and protein structures using Fourier transform infrared spectroscopy
    • Haris, P.I. & Chapman, D. (1994) Analysis of polypeptide and protein structures using Fourier transform infrared spectroscopy. Methods Mol. Biol. 22, 183-202.
    • (1994) Methods Mol. Biol. , vol.22 , pp. 183-202
    • Haris, P.I.1    Chapman, D.2
  • 20
    • 0019153066 scopus 로고
    • Amyloid deposits and amyloidosis: The beta-fibrilloses (first of two parts)
    • Glenner, G.G. (1980) Amyloid deposits and amyloidosis: The beta-fibrilloses (first of two parts). N. Engl. J. Med. 302, 1283-1292.
    • (1980) N. Engl. J. Med. , vol.302 , pp. 1283-1292
    • Glenner, G.G.1
  • 21
    • 0019153066 scopus 로고
    • Amyloid deposits and amyloidosis: The beta-fibrilloses (second of two parts)
    • Glenner, G.G. (1980) Amyloid deposits and amyloidosis: The beta-fibrilloses (second of two parts). N. Engl. J. Med. 302, 1333-1343.
    • (1980) N. Engl. J. Med. , vol.302 , pp. 1333-1343
    • Glenner, G.G.1
  • 22
    • 0034646599 scopus 로고    scopus 로고
    • Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein
    • Korvatska, E., Henry, H., Mashima, Y., Yamada, M., Bachmann, C., Munier, F.L. & Schorderet, D.F. (2000) Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J. Biol. Chem. 275, 11465-11469.
    • (2000) J. Biol. Chem. , vol.275 , pp. 11465-11469
    • Korvatska, E.1    Henry, H.2    Mashima, Y.3    Yamada, M.4    Bachmann, C.5    Munier, F.L.6    Schorderet, D.F.7
  • 23
    • 0033003369 scopus 로고    scopus 로고
    • Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea
    • Akhtar, S., Meek, K.M., Ridgway, A.E., Bonshek, R.E. & Bron, A.J. (1999) Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea. Arch. Ophthalmol. 117, 310-321.
    • (1999) Arch. Ophthalmol. , vol.117 , pp. 310-321
    • Akhtar, S.1    Meek, K.M.2    Ridgway, A.E.3    Bonshek, R.E.4    Bron, A.J.5
  • 24
    • 0039196271 scopus 로고    scopus 로고
    • Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I
    • Takacs, L., Boross, P., Tozser, J., Modis, L., JrToth, G. & Berta, A. (1998) Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. Exp. Eye Res. 66, 739-745.
    • (1998) Exp. Eye Res. , vol.66 , pp. 739-745
    • Takacs, L.1    Boross, P.2    Tozser, J.3    Modis, L.4    Toth, G.5    Berta, A.6
  • 25
    • 0022004144 scopus 로고
    • Temporal relationship between glycosaminoglycan accumulation and amyloid deposition during experimental amyloidosis: A histochemical study
    • Snow, A.D. & Kisilevsky, R. (1985) Temporal relationship between glycosaminoglycan accumulation and amyloid deposition during experimental amyloidosis: A histochemical study. Lab. Invest. 53, 37-44.
    • (1985) Lab. Invest. , vol.53 , pp. 37-44
    • Snow, A.D.1    Kisilevsky, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.