Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.

B J Starman; D Eyre; H Charbonneau; M Harrylock; M A Weis; L Weiss; J M Graham; P H Byers

doi:10.1172/jci114286

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.

Journal of Clinical Investigation ◽

10.1172/jci114286 ◽

1989 ◽

Vol 84 (4) ◽

pp. 1206-1214 ◽

Cited By ~ 52

Author(s):

B J Starman ◽

D Eyre ◽

H Charbonneau ◽

M Harrylock ◽

M A Weis ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Clinical Phenotype ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain

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Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple-helical domain

FEBS Letters ◽

10.1016/0014-5793(86)80407-0 ◽

1986 ◽

Vol 198 (2) ◽

pp. 213-216 ◽

Cited By ~ 26

Author(s):

Wolfie Traub ◽

Beat Steinmann

Keyword(s):

Osteogenesis Imperfecta ◽

Structural Study ◽

Disulfide Bond ◽

Type I Collagen ◽

Type I ◽

Mutant Type ◽

Helical Domain ◽

Intramolecular Disulfide Bond ◽

Triple Helical Domain

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Cysteine in the triple helical domain of the pro?2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta

Human Genetics ◽

10.1007/bf00204175 ◽

1991 ◽

Vol 87 (2) ◽

pp. 167-172 ◽

Cited By ~ 2

Author(s):

Daniel H. Cohn ◽

Peter H. Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain

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Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta

American Journal of Medical Genetics ◽

10.1002/ajmg.1320450219 ◽

1993 ◽

Vol 45 (2) ◽

pp. 252-256 ◽

Cited By ~ 24

Author(s):

Ruggero Tenni ◽

Maurizia Valli ◽

Antonio Rossi ◽

Giuseppe Cetta

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Molecular Pathogenesis ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain

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Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)44798-3 ◽

1990 ◽

Vol 265 (30) ◽

pp. 18628-18633 ◽

Cited By ~ 7

Author(s):

G A Wallis ◽

B J Starman ◽

M F Schwartz ◽

P H Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain

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Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)90631-9 ◽

1984 ◽

Vol 259 (17) ◽

pp. 11129-11138 ◽

Cited By ~ 6

Author(s):

B Steinmann ◽

V H Rao ◽

A Vogel ◽

P Bruckner ◽

R Gitzelmann ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain ◽

I Gene

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Moderately Severe Osteogenesis Imperfecta: Biochemical Studies Showing Variable Defect Localization in the Triple-Helical Domain of Type I Collagen

Matrix ◽

10.1016/s0934-8832(11)80169-1 ◽

1990 ◽

Vol 10 (3) ◽

pp. 200-205 ◽

Cited By ~ 2

Author(s):

Maurizia Valli ◽

Ruggero Tenni ◽

Giuseppe Cetta

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Helical Domain ◽

Defect Localization ◽

Biochemical Studies ◽

Triple Helical Domain

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A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

Human Mutation ◽

10.1002/humu.1380030411 ◽

1994 ◽

Vol 3 (4) ◽

pp. 391-394 ◽

Cited By ~ 6

Author(s):

Nicola J. Rose ◽

Katrina Mackay ◽

Peter H. Byers ◽

Raymond Dalgleish

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Type Iii ◽

Helical Domain ◽

Triple Helical Domain

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Does the Triple Helical Domain of Type I Collagen Encode Molecular Recognition and Fiber Assembly while Telopeptides Serve as Catalytic Domains?

Journal of Biological Chemistry ◽

10.1074/jbc.274.51.36083 ◽

1999 ◽

Vol 274 (51) ◽

pp. 36083-36088 ◽

Cited By ~ 77

Author(s):

Natalia Kuznetsova ◽

Sergey Leikin

Keyword(s):

Molecular Recognition ◽

Type I Collagen ◽

Type I ◽

Fiber Assembly ◽

Catalytic Domains ◽

Helical Domain ◽

Triple Helical Domain

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Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta

PLoS ONE ◽

10.1371/journal.pone.0200264 ◽

2018 ◽

Vol 13 (7) ◽

pp. e0200264 ◽

Cited By ~ 3

Author(s):

Elena Makareeva ◽

Guoli Sun ◽

Lynn S. Mirigian ◽

Edward L. Mertz ◽

Juan C. Vera ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Helical Domain ◽

Type I Procollagen ◽

Triple Helical Domain

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A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)74072-1 ◽

1992 ◽

Vol 267 (35) ◽

pp. 25529-25534 ◽

Cited By ~ 1

Author(s):

G.A. Wallis ◽

K.E. Kadler ◽

B.J. Starman ◽

P.H. Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Helical Domain ◽

Type I Procollagen ◽

Triple Helical Domain

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