Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya et al.   JOURNAL OF MEDICAL GENETICS

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Peptidyl 3-Hydroxyproline Binding Properties of Type I Collagen Suggest a Function in Fibril Supramolecular Assembly

(2012) David M. Hudson et al.   BIOCHEMISTRY

Recent Advances in Osteogenesis Imperfecta

(2012) Tim Cundy   CALCIFIED TISSUE INTERNATIONAL

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

(2012) U. Schwarze et al.   HUMAN MOLECULAR GENETICS

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

(2012) Maria Trinidad Puig-Hervás et al.   HUMAN MUTATION

Comprehensive Mass Spectrometric Mapping of the Hydroxylated Amino Acid residues of the α1(V) Collagen Chain

(2012) Chenxi Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation in Cyclophilin B That Causes Hyperelastosis Cutis in American Quarter Horse Does Not Affect Peptidylprolylcis-transIsomerase Activity but Shows Altered Cyclophilin B-Protein Interactions and Affects Collagen Folding

(2012) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints

(2012) Elena Pokidysheva et al.   MATRIX BIOLOGY

Identification and Characterization of a New Autoimmune Protein in Membranous Nephropathy by Immunoscreening of a Renal cDNA Library

(2012) Fabrizio Cavazzini et al.   PLoS One

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

(2011) Shikma Mordechai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

(2011) Shawna M. Pyott et al.   HUMAN MOLECULAR GENETICS

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

(2011) Katarina Lindahl et al.   HUMAN MUTATION

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

A Novel 3-Hydroxyproline (3Hyp)-rich Motif Marks the Triple-helical C Terminus of Tendon Type I Collagen

(2011) David R. Eyre et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Role for Prolyl 3-Hydroxylase 2 in Post-translational Modification of Fibril-forming Collagens

(2011) Russell J. Fernandes et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Insights on the Evolution of Prolyl 3-Hydroxylation Sites from Comparative Analysis of Chicken and Xenopus Fibrillar Collagens

(2011) David M. Hudson et al.   PLoS One

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

(2010) Yasemin Alanay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prolyl 3-Hydroxylase 1 Null Mice Display Abnormalities in Fibrillar Collagen-rich Tissues Such as Tendons, Skin, and Bones

(2010) Janice A. Vranka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mineralization of the metre-long biosilica structures of glass sponges is templated on hydroxylated collagen

(2010) Hermann Ehrlich et al.   Nature Chemistry

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

(2010) Aileen M. Barnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

Generalized Connective Tissue Disease in Crtap-/- Mouse

(2010) Dustin Baldridge et al.   PLoS One

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression of Prolyl 3-hydroxylase Genes in Embryonic and Adult Mouse Tissues

(2009) Janice Vranka et al.   CELL STRUCTURE AND FUNCTION

The evolutionarily conserved leprecan gene: Its regulation by Brachyury and its role in the developing Ciona notochord

(2009) Matthew P. Dunn et al.   DEVELOPMENTAL BIOLOGY

Biochemical Characterization of the Prolyl 3-Hydroxylase 1·Cartilage-associated Protein·Cyclophilin B Complex

(2009) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Location of 3-Hydroxyproline Residues in Collagen Types I, II, III, and V/XI Implies a Role in Fibril Supramolecular Assembly

(2009) Mary Ann Weis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Effect of the -Gly-3(S)-hydroxyprolyl-4(R)-hydroxyprolyl- tripeptide unit on the stability of collagen model peptides

(2008) Kazunori Mizuno et al.   FEBS Journal

Conservation of notochord gene expression across chordates: Insights from theLeprecangene family

(2008) Terence D. Capellini et al.   GENESIS

CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

(2008) Dustin Baldridge et al.   HUMAN MUTATION

Characterization of Recombinant Human Prolyl 3-Hydroxylase Isoenzyme 2, an Enzyme Modifying the Basement Membrane Collagen IV

(2008) Päivi Tiainen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Stabilization of the Collagen Triple Helix byO-Methylation of Hydroxyproline Residues

(2008) Frank W. Kotch et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY