Collagen Structure, Folding and Function - Osteogenesis Imperfecta - page 73

[20] Moro L, Smith BD. Identiication of collagen alpha1(I) trimer
and normal type I collagen in a polyoma virus-induced mouse
tumor. Arch Biochem Biophys 1977;182(1):33-41.
[21] Shapiro FD, Eyre DR. Collagen polymorphism in extracel-
lular matrix of human osteosarcoma. J Natl Cancer Inst 1982;
69(5):1009-16.
[22] Yamagata S, Yamagata T. FBJ virus-induced osteosarcoma con-
tains type I, type I trimer, type III as well as type V collagens.
J Biochem 1984;96(1):17-26.
[23] Pucci Minafra I, Luparello C, Sciarrino S, Tomasino RM,
Minafra S. Quantitative determination of collagen types pres-
ent in the ductal iniltrating carcinoma of human mammary
gland. Cell Biol Int Rep 1985;9(3):291-6.
[24] Asokan R, Puvanakrishnan R, Ravichandran LV, Kokila V,
Reddy GK, Dhar SC. Puriication and characterization of colla-
gens from rat ibrosarcoma induced by 3-methylcholanthrene.
Mol Cell Biochem 1993;121(2):99-107.
[25] Makareeva E, Han S, Vera JC, Sackett DL, Holmbeck K, Phillips
CL, et al. Carcinomas contain a matrix metalloproteinase-resis-
tant isoform of type I collagen exerting selective support to inva-
sion. Cancer Res 2010;70(11):4366-74.
[26] Rojkind M, Giambrone MA, Biempica L. Collagen types in nor-
mal and cirrhotic liver. Gastroenterology 1979;76(4):710-9.
[27] Narayanan AS, Page RC, Meyers DF. Characterization of
collagens of diseased human gingiva. Biochemistry 1980;
19(22):5037-43.
[28] Ehrlich HP, Brown H, White BS. Evidence for type V and I
trimer collagens in Dupuytren's Contracture palmar fascia.
Biochem Med 1982;28(3):273-84.
[29] Han S, Makareeva E, Kuznetsova NV, DeRidder AM, Sutter MB,
Losert W, et al. Molecular mechanism of type I collagen homotri-
mer resistance to mammalian collagenases. J Biol Chem 2010;
285(29):22276-81.
[30] Chipman SD, Sweet HO, McBride DJ, Davisson MT, Marks SC,
Shuldiner AR, et al. Defective pro-alpha-2(I) collagen-synthesis
in a recessive mutation in mice - a model of human osteogen-
esis imperfecta. Proc Natl Acad Sci USA 1993;90(5):1701-5.
[31] Schwarze U, Hata RI, McKusick VA, Shinkai H, Hoyme HE,
Pyeritz RE, et al. Rare autosomal recessive cardiac valvular
form of Ehlers-Danlos syndrome results from mutations in the
COL1A2 gene that activate the nonsense-mediated RNA decay
pathway. Am J Hum Genet 2004;74(5):917-30.
[32] Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe
A. Total absence of the alpha 2(I) chain of collagen type I causes
a rare form of Ehlers-Danlos syndrome with hypermobility and
propensity to cardiac valvular problems. J Med Genet 2006;43:7.
[33] Birk DE, Bruckner P. Collagen suprastructures. Top Curr Chem
2005;247:185-205.
[34] Canty EG, Kadler KE. Procollagen traficking, processing and
ibrillogenesis. J Cell Sci 2005;118(7):1341-53.
[35] Myllyharju J, Kivirikko KI. Collagens, modifying enzymes
and their mutations in humans, lies and worms. Trends Genet
2004;20(1):33-43.
[36] Engel J, Bachinger HP. Structure, stability and folding of the
collagen triple helix. Top Curr Chem 2005;247:7-33.
[37] Engel J, Prockop DJ. The zipper-like folding of collagen triple
helices and the effects of mutations that disrupt the zipper.
Annu Rev Biophys Biophys Chem 1991;20:137-52.
[38] Brodsky B, Thiagarajan G, Madhan B, Kar K. Triple-helical
peptides: an approach to collagen conformation, stability, and
self-association. Biopolymers 2008;89(5):345-53.
[39] Shoulders MD, Raines RT. Collagen structure and stability.
Annu Rev Biochem 2009;78:929-58.
[40] Gorres KL, Raines RT. Prolyl 4-hydroxylase. Crit Rev Biochem
Mol Biol 2010;45(2):106-24.

[41] Myllyharju J. Prolyl 4-hydroxylases, key enzymes in the synthe-
sis of collagens and regulation of the response to hypoxia, and
their roles as treatment targets. Ann Med 2008;40(6):402-17.
[42] Persikov AV, Ramshaw JA, Brodsky B. Prediction of collagen
stability from amino acid sequence. J Biol Chem 2005;280(19):
19343-49.
[43] Kuznetsova NV, McBride DJ, Leikin S. Changes in thermal
stability and microunfolding pattern of collagen helix result-
ing from the loss of alpha 2(I) chain in osteogenesis imperfecta
murine. J Mol Biol 2003;331(1):191-200.
[44] Ryhanen L, Zaragoza EJ, Uitto J. Conformational stability of
type I collagen triple helix: evidence for temporary and local
relaxation of the protein conformation using a proteolytic probe.
Arch Biochem Biophys 1983;223(2):562-71.
[45] Hofmann H, Voss T, Kuhn K, Engel J. Localization of lex-
ible sites in thread-like molecules from electron micrographs.
Comparison of interstitial, basement membrane and intima
collagens. J Mol Biol 1984;172(3):325-43.
[46] Kadler KE, Hojima Y, Prockop DJ. Assembly of type I colla-
gen ibrils de novo. Between 37 and 41 degrees C the process
is limited by micro-unfolding of monomers. J Biol Chem 1988;
263(21):10517-10523.
[47] Privalov PL. Stability of proteins. Proteins which do not present
a single cooperative system. Adv Protein Chem 1982;35:1-104.
[48] Spotila LD, Colige A, Sereda L, Constantinoudeltas CD, Whyte
MP, Riggs BL, et al. Mutation analysis of coding sequences for
type-I procollagen in individuals with low bone-density. J Bone
Miner Res 1994;9(6):923-32.
[49] Reis FC, Alexandrino F, Steiner CE, Norato DY, Cavalcanti DP,
Sartorato EL. Molecular indings in Brazilian patients with
osteogenesis imperfecta. J Appl Genet 2005;46(1):105-8.
[50] Pollitt R, McMahon R, Nunn J, Bamford R, Aii A, Bishop N,
et al. Mutation analysis of COL1A1 and COL1A2 in patients
diagnosed with osteogenesis imperfecta type I-IV. Hum Mutat
2006;27(7):716.
[51] Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A,
Steplewski A, et al. Y-position cysteine substitution in type I
collagen (alpha 1(I) R888C / p.R1066C) is associated with osteo-
genesis imperfecta / Ehlers-Danlos syndrome phenotype. Hum
Mutat 2007;28(4):396-405.
[52] Malfait F, Symoens S, De Backer J, Hermanns-Le T, Sakalihasan
N, Lapiere CM, et al. Three arginine to cysteine substitutions
4 in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syn-
drome with a propensity to arterial rupture in early adulthood.
Hum Mutat 2007;28(4):387-95.
[53] Lund AM, Joensen F, Christensen E, Duno M, Skovby F,
Schwartz M. A novel arginine-to-cysteine substitution in the
triple helical region of the alpha 1(I) collagen chain in a fam-
ily with an osteogenesis imperfecta / Ehlers-Danlos phenotype.
Clin Genet 2008;73(1):97-101.
[54] Dalgleish R, Osteogenesis imperfecta & Ehlers-Danlos syndrome
variant databases. Available from: < http: // www.le.ac.uk / ge /
collagen / > .
[55] Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le
T, De Paepe A. Classical Ehlers-Danlos syndrome caused by
a mutation in type I collagen. Am J Hum Genet 2000;66(4):
1398-402.
[56] Gensure RC, Makitie O, Barclay C, Chan C, DePalma SR,
Bastepe M, et al. A novel COL1A1 mutation in infantile corti-
cal hyperostosis (Caffey disease) expands the spectrum of col-
lagen-related disorders. J Clin Invest 2005;115(5):1250-7.
[57] Cho TJ, Moon HJ, Cho DY, Park MS, Lee DY, Yoo WJ, et al. The
c.3040C>T mutation in COL1A1 is recurrent in Korean patients
with infantile cortical hyperostosis (Caffey disease). J Hum
Genet 2008;53(10):947-9.