BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta - Osteogenesis Imperfecta - page 169

SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am
J Hum Genet 2011;88:362-71.

[25] Hopkins DR, Keles S, Greenspan DS. The bone morphogenetic

protein 1/tolloid-like metalloproteinases. Matrix Biol 2007;
26:508-23. [14] Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi

N, Mousa N, et al. Study of autosomal recessive osteogenesis
imperfecta in Arabia reveals a novel locus deined by TMEM38B
mutation. J Med Genet 2012;49:630-5.

[26] Takahara K, Lyons GE, Greenspan DS. Bone morphogenetic

protein-1 and a mammalian tolloid homologue (mTld) are
encoded by alternatively spliced transcripts which are differen-
tially expressed in some tissues. J Biol Chem 1994;269:32572-32578. [15] Canty EG, Kadler KE. Procollagen traficking, processing and

ibrillogenesis. J Cell Sci 2005;118:1341-53. [27] Takahara K, Brevard R, Hoffman GG, Suzuki N, Greenspan DS.

Characterization of a novel gene product (mammalian tolloid-
like) with high sequence similarity to mammalian tolloid/bone
morphogenetic protein-1. Genomics 1996;34:157-65.

[16] Makareeva E, Aviles NA, Leikin S. Chaperoning osteogen-

esis: new protein-folding disease paradigms. Trends Cell Biol
2011;21:168-76.

[17] Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W,

et al. Human Ehlers-Danlos syndrome type VII C and bovine
dermatosparaxis are caused by mutations in the procollagen I
N-proteinase gene. Am J Hum Genet 1999;65:308-17.

[28] Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, et al.

Attenuated BMP1 function compromises osteogenesis, lead-
ing to bone fragility in humans and zebraish. Am J Hum Genet
2012;90:661-74.

[18] Fernandes RJ, Hirohata S, Engle JM, Colige A, Cohn DH, Eyre DR,

et al. Procollagen II amino propeptide processing by ADAMTS-3.
Insights on dermatosparaxis. J Biol Chem 2001;276:31502-31509.

[29] Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M,

Temtamy S, Tenorio J, et al. Identiication of a mutation causing
deicient BMP1/mTLD proteolytic activity in autosomal reces-
sive osteogenesis imperfecta. Hum Mutat 2012;33:343-50. [19] Colige A, Vandenberghe I, Thiry M, Lambert CA, Van Beeumen

J, Li SW, et al. Cloning and characterization of ADAMTS-14, a
novel ADAMTS displaying high homology with ADAMTS-2
and ADAMTS-3. J Biol Chem 2002;277:5756-66.

[30] Scott IC, Blitz IL, Pappano WN, Imamura Y, Clark TG, Steiglitz

BM, et al. Mammalian BMP-1/tolloid-related metalloproteinases,
including novel family member mammalian tolloid-like 2, have
differential enzymatic activities and distributions of expression rel-
evant to patterning and skeletogenesis. Dev Biol 1999;213:283-300.

[20] Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan

TE, Makareeva E, et al. COL1 C-propeptide cleavage site muta-
tions cause high bone mass osteogenesis imperfecta. Hum
Mutat 2011;32:598-609.

[31] Shimell MJ, Ferguson EL, Childs SR, O'Connor MB. The

Drosophila dorsal-ventral patterning gene tolloid is related to
human bone morphogenetic protein 1. Cell 1991;67:469-81. [21] Khoshnoodi J, Cartailler JP, Alvares K, Veis A, Hudson BG.

Molecular recognition in the assembly of collagens: terminal non-
collagenous domains are key recognition modules in the forma-
tion of triple helical protomers. J Biol Chem 2006;281:38117-38121.

[32] Pappano WN, Steiglitz BM, Scott IC, Keene DR, Greenspan

DS. Use of Bmp1/Tll1 doubly homozygous null mice and pro-
teomics to identify and validate in vivo substrates of bone mor-
phogenetic protein 1/tolloid-like metalloproteinases. Mol Cell
Biol 2003;23:4428-38.

[22] Chessler SD, Wallis GA, Byers PH. Mutations in the carboxyl-

terminal propeptide of the pro alpha 1(I) chain of type I collagen
result in defective chain association and produce lethal osteo-
genesis imperfecta. J Biol Chem 1993;268:18218-18225.

[33] Suzuki N, Labosky PA, Furuta Y, Hargett L, Dunn R, Fogo AB,

et al. Failure of ventral body wall closure in mouse embryos lack-
ing a procollagen C-proteinase encoded by Bmp1, a mammalian
gene related to Drosophila tolloid. Development 1996;122:3587-95.

[23] Ge G, Greenspan DS. Developmental roles of the BMP1/

TLD metalloproteinases. Birth Defects Res C Embryo Today
2006;78:47-68.

[24] Kessler E, Takahara K, Biniaminov L, Brusel M, Greenspan

DS. Bone morphogenetic protein-1: the type I procollagen
C-proteinase. Science 1996;271:360-2.