A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

[1]  N. Elçioglu,et al.  Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. , 2008, American journal of human genetics.

[2]  H. Pospiech,et al.  The glycosyltransferase activities of lysyl hydroxylase 3 (LH3) in the extracellular space are important for cell growth and viability , 2008, Journal of cellular and molecular medicine.

[3]  A. Aszódi,et al.  Secretion and Assembly of Type IV and VI Collagens Depend on Glycosylation of Hydroxylysines* , 2007, Journal of Biological Chemistry.

[4]  D. Coady,et al.  Biomarkers predict radiographic progression in early rheumatoid arthritis and perform well compared with traditional markers. , 2007, Arthritis and rheumatism.

[5]  Chunguang Wang,et al.  Expanding the lysyl hydroxylase toolbox: New insights into the localization and activities of lysyl hydroxylase 3 (LH3) , 2007, Journal of cellular physiology.

[6]  R. Sormunen,et al.  Lysyl hydroxylase 3 (LH3) modifies proteins in the extracellular space, a novel mechanism for matrix remodeling , 2006, Journal of cellular physiology.

[7]  A. Aszódi,et al.  Glycosylation catalyzed by lysyl hydroxylase 3 is essential for basement membranes , 2006, Journal of Cell Science.

[8]  R. Bank,et al.  Minoxidil exerts different inhibitory effects on gene expression of lysyl hydroxylase 1, 2, and 3: implications for collagen cross-linking and treatment of fibrosis. , 2005, Matrix biology : journal of the International Society for Matrix Biology.

[9]  H. Lankinen,et al.  Characterization of Collagenous Peptides Bound to Lysyl Hydroxylase Isoforms* , 2004, Journal of Biological Chemistry.

[10]  A. Helenius,et al.  Roles of N-linked glycans in the endoplasmic reticulum. , 2004, Annual review of biochemistry.

[11]  S. Robins,et al.  Identification, expression and tissue distribution of the three rat lysyl hydroxylase isoforms , 2004, Biochemical and biophysical research communications.

[12]  C. Kielty,et al.  The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix , 2003 .

[13]  Chunguang Wang,et al.  The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro. , 2002, Matrix biology : journal of the International Society for Matrix Biology.

[14]  Chunguang Wang,et al.  Identification of Amino Acids Important for the Catalytic Activity of the Collagen Glucosyltransferase Associated with the Multifunctional Lysyl Hydroxylase 3 (LH3)* , 2002, The Journal of Biological Chemistry.

[15]  D. Heinegård,et al.  Glycosylated matrix protein , 2002 .

[16]  B. Casetta,et al.  A rapid and simple method for quantitation of urinary hydroxylysyl glycosides, indicators of collagen turnover, using liquid chromatography/tandem mass spectrometry. , 2000, Rapid communications in mass spectrometry : RCM.

[17]  Chunguang Wang,et al.  Lysyl Hydroxylase 3 Is a Multifunctional Protein Possessing Collagen Glucosyltransferase Activity* , 2000, The Journal of Biological Chemistry.

[18]  H. Pospiech,et al.  Characterization of cDNAs for mouse lysyl hydroxylase 1, 2 and 3, their phylogenetic analysis and tissue-specific expression in the mouse. , 1999, Matrix biology : journal of the International Society for Matrix Biology.

[19]  J. Yates,et al.  Clinical and molecular genetics of Stickler syndrome , 1999, Journal of medical genetics.

[20]  C. Wijmenga,et al.  Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[21]  L. Ala‐Kokko,et al.  Cloning and characterization of a third human lysyl hydroxylase isoform. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[22]  C. Szpirer,et al.  Primary Structure, Tissue Distribution, and Chromosomal Localization of a Novel Isoform of Lysyl Hydroxylase (Lysyl Hydroxylase 3)* , 1998, The Journal of Biological Chemistry.

[23]  S P Robins,et al.  Automated analysis of the pyridinium crosslinks of collagen in tissue and urine using solid-phase extraction and reversed-phase high-performance liquid chromatography. , 1992, Analytical biochemistry.

[24]  B. Duperrat [The Ehlers-Danlos syndrome]. , 1965, Gazette medicale de France.

[25]  J. Uitto,et al.  Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. , 2005, Clinics in dermatology.

[26]  P. Delmas,et al.  Association of baseline levels of urinary glucosyl-galactosyl-pyridinoline and type II collagen C-telopeptide with progression of joint destruction in patients with early rheumatoid arthritis. , 2002, Arthritis and rheumatism.

[27]  R. Krishna,et al.  Post-Translational Modifications of Proteins , 1993 .

[28]  Beat Steinmann,et al.  Connective tissue and its heritable disorders —Molecular, genetic and medical aspects , 1993 .

[29]  K. Kivirikko Hydroxylation of proline and lysine residues in collagens and other animal and plant proteins , 1992 .

[30]  K. Kivirikko,et al.  Posttranslational enzymes in the biosynthesis of collagen: intracellular enzymes. , 1982, Methods in enzymology.