- LH1 ALA018THR (PLOD1 c.52G>A) - ClinVar - View
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- Abdalla, E. M., M. Rohrbach, C. Burer, M. Kraenzlin, H. El-Tayeby, M. F. Elbelbesy, A. Nabil and C. Giunta (2015). "Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype." Eur J Pediatr 174(1): 105-112 - DOI - PubMed - Mutations
- Brinckmann, J., Y. Acil, S. Feshchenko, E. Katzer, R. Brenner, A. Kulozik and S. Kugler (1998). "Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)." Arch Dermatol Res 290(4): 181-186 - DOI - PubMed - Mutations
- Dembure, P. P., J. H. Priest, S. C. Snoddy and L. J. Elsas (1984). "Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI." Am J Hum Genet 36(4): 783-790 - DOI - PubMed - Mutations
- Dembure, P. P., A. R. Janko, J. H. Priest and L. J. Elsas (1987). "Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI." Metabolism 36(7): 687-691 - DOI - PubMed - Mutations
- Elsas, L. J., 2nd, R. L. Miller and S. R. Pinnell (1978). "Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response." J Pediatr 92(3): 378-384 - DOI - PubMed - Mutations
- Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke S, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. (2019) "Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications." Journal of Medical Genetics, in press - DOI - PubMed - Mutations
- Giunta, C., A. Randolph and B. Steinmann (2005). "Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)." Mol Genet Metab 86(1-2): 269-276 - DOI - PubMed - Mutations
- Giunta, C., A. Randolph, L. I. Al-Gazali, H. G. Brunner, M. E. Kraenzlin and B. Steinmann (2005). "Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)." Am J Med Genet A 133A(2): 158-164. - DOI - PubMed - Mutations
- Guo, H. F., C. L. Tsai, M. Terajima, X. Tan, P. Banerjee, M. D. Miller, X. Liu, J. Yu, J. Byemerwa, S. Alvarado, T. S. Kaoud, K. N. Dalby, N. Bota-Rabassedas, Y. Chen, M. Yamauchi, J. A. Tainer, G. N. Phillips, Jr. and J. M. Kurie (2018). "Pro-metastatic collagen lysyl hydroxylase dimer assemblies stabilized by Fe(2+)-binding." Nat Commun 9(1): 512 - DOI - PubMed - Mutations
- Ha, V. T., M. K. Marshall, L. J. Elsas, S. R. Pinnell and H. N. Yeowell (1994). "A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene." J Clin Invest 93(4): 1716-1721 - DOI - PubMed - Mutations
- Ha-Vinh, R., Y. Alanay, R. A. Bank, A. B. Campos-Xavier, A. Zankl, A. Superti-Furga and L. Bonafe (2004). "Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2." Am J Med Genet A 131(2): 115-120 - DOI - PubMed - Mutations
- Heikkinen, J., T. Toppinen, H. Yeowell, T. Krieg, B. Steinmann, K. I. Kivirikko and R. Myllyla (1997). "Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome." Am J Hum Genet 60(1): 48-56. - DOI - PubMed - Mutations
- Heikkinen, J., B. Pousi, M. Pope and R. Myllyla (1999). "A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI." Hum Mutat 14(4): 351. - DOI - PubMed - Mutations
- Heikkinen, J., M. Risteli, C. Wang, J. Latvala, M. Rossi, M. Valtavaara and R. Myllyla (2000). "Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity." J Biol Chem 275(46): 36158-36163 - DOI - PubMed - Mutations
- Hyland, J., L. Ala-Kokko, P. Royce, B. Steinmann, K. I. Kivirikko and R. Myllyla (1992). "A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI." Nat Genet 2(3): 228-231 - DOI - PubMed - Mutations
- Hyry, M., J. Lantto and J. Myllyharju (2009). "Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2." J Biol Chem 284(45): 30917-30924 - DOI - PubMed - Mutations
- Ihme, A., T. Krieg, A. Nerlich, U. Feldmann, J. Rauterberg, R. W. Glanville, G. Edel and P. K. Muller (1984). "Ehlers-Danlos syndrome type VI: collagen type specificity of defective lysyl hydroxylation in various tissues." J Invest Dermatol 83(3): 161-165. - DOI - PubMed - Mutations
- Kariminejad, A., B. Bozorgmehr, A. Khatami, M. H. Kariminejad, C. Giunta and B. Steinmann (2010). "Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?" Iran J Pediatr 20(3): 358-362 - DOI - PubMed - Mutations
- Miller, R. L., L. J. Elsas and R. E. Priest (1979). "Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts." J Invest Dermatol 72(5): 241-247 - DOI - PubMed - Mutations
- Mumm, S., Gottesman, G. S., Wenkert, D., Campeau, P. M., Nenninger, A., Huskey, M., Bijanki, V. N., Veis, D. J., Barnes, A. M., Marini, J. C., Stolina, M., Zhang, F., Mcalister, W. H., Whyte, M. P. (2019). "Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous plod2 mutation." Bone, 115047. - DOI - PubMed - Mutations
- Pajunen, L., M. Suokas, T. Hautala, S. Kellokumpu, B. Tebbe, K. I. Kivirikko and R. Myllyla (1998). "A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI." DNA Cell Biol 17(2): 117-123 - DOI - PubMed - Mutations
- Passoja, K., K. Rautavuoma, L. Ala-Kokko, T. Kosonen and K. I. Kivirikko (1998). "Cloning and characterization of a third human lysyl hydroxylase isoform." Proc Natl Acad Sci U S A 95(18): 10482-10486 - DOI - PubMed - Mutations
- Pirskanen, A., A. M. Kaimio, R. Myllyla and K. I. Kivirikko (1996). "Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity." J Biol Chem 271(16): 9398-9402 - DOI - PubMed - Mutations
- Pousi, B., T. Hautala, J. C. Hyland, J. Schroter, B. Eckes, K. I. Kivirikko and R. Myllyla (1998). "A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene." Hum Mutat 11(1): 55-61 - DOI - PubMed - Mutations
- Pousi, B., J. Heikkinen, J. Schroter, M. Pope and R. Myllyla (2000). "A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI." Mutat Res 432(1-2): 33-37 - DOI - PubMed - Mutations
- Rohrbach, M., A. Vandersteen, U. Yis, G. Serdaroglu, E. Ataman, M. Chopra, S. Garcia, K. Jones, A. Kariminejad, M. Kraenzlin, C. Marcelis, M. Baumgartner and C. Giunta (2011). "Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation." Orphanet J Rare Dis 6: 46 - DOI - PubMed - Mutations
- Royce, P. M. and M. J. Barnes (1985). "Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen." Biochem J 230(2): 475-480 - DOI - PubMed - Mutations
- Salavoura, K., M. Valari, A. Kolialexi, A. Mavrou and S. Kitsiou (2006). "A case of Ehlers Danlos syndrome type VI." Genet Couns 17(3): 291-294 - DOI - PubMed - Mutations
- Salo, A. M., H. Cox, P. Farndon, C. Moss, H. Grindulis, M. Risteli, S. P. Robins and R. Myllyla (2008). "A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene." Am J Hum Genet 83(4): 495-503 - DOI - PubMed - Mutations
- Scietti, L., A. Chiapparino, F. De Giorgi, M. Fumagalli, L. Khoriauli, S. Nergadze, S. Basu, V. Olieric, L. Cucca, B. Banushi, A. Profumo, E. Giulotto, P. Gissen and F. Forneris (2018). "Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3." Nat Commun 9(1): 3163 - DOI - PubMed - Mutations
- Tosun, A., S. Kurtgoz, S. Dursun and G. Bozkurt (2014). "A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation." Pediatr Neurol 51(4): 566-569. - DOI - PubMed - Mutations
- Vahidnezhad, H., L. Youssefian, et al. (2018). "Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency." Matrix Biol. - DOI - PubMed - Mutations
- van der Slot, A. J., A. M. Zuurmond, A. F. Bardoel, C. Wijmenga, H. E. Pruijs, D. O. Sillence, J. Brinckmann, D. J. Abraham, C. M. Black, N. Verzijl, J. DeGroot, R. Hanemaaijer, J. M. TeKoppele, T. W. Huizinga and R. A. Bank (2003). "Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis." J Biol Chem 278(42): 40967-40972 - DOI - PubMed - Mutations
- Walker, L. C., J. C. Marini, D. K. Grange, J. Filie and H. N. Yeowell (1999). "A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene." Mol Genet Metab 67(1): 74-82 - DOI - PubMed - Mutations
- Walker, L. C., M. A. Overstreet, A. Siddiqui, A. De Paepe, G. Ceylaner, F. Malfait, S. Symoens, P. Atsawasuwan, M. Yamauchi, S. Ceylaner, R. A. Bank and H. N. Yeowell (2005). "A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient." J Invest Dermatol 124(5): 914-918 - DOI - PubMed - Mutations
- Wang, C., H. Luosujarvi, J. Heikkinen, M. Risteli, L. Uitto and R. Myllyla (2002). "The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro." Matrix Biol 21(7): 559-566 - DOI - PubMed - Mutations
- Wang, C., M. Risteli, J. Heikkinen, A. K. Hussa, L. Uitto and R. Myllyla (2002). "Identification of amino acids important for the catalytic activity of the collagen glucosyltransferase associated with the multifunctional lysyl hydroxylase 3 (LH3)." J Biol Chem 277(21): 18568-18573 - DOI - PubMed - Mutations
- Yeowell, H. N. and L. C. Walker (1997). "Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene." Proc Assoc Am Physicians 109(4): 383-396 - DOI - PubMed - Mutations
- Yeowell, H. N., L. C. Walker, B. Farmer, J. Heikkinen and R. Myllyla (2000). "Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family." Hum Mutat 16(1): 90 - DOI - PubMed - Mutations
- Yeowell, H. N. and L. C. Walker (2000). "Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI." Mol Genet Metab 71(1-2): 212-224 - DOI - PubMed - Mutations
- Yis, U., E. Dirik, C. Chambaz, B. Steinmann and C. Giunta (2008). "Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)." Neuromuscul Disord 18(3): 210-214 - DOI - PubMed - Mutations
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- Lysyl Hydroxylase 1 (human) (gene PLOD1) - Mutations
- Lysyl Hydroxylase 2a/2b (human) (gene PLOD2) - Mutations
- Lysyl Hydroxylase 3 (human) (gene PLOD3) - Mutations
- Lysyl Hydroxylase L230 (mimivirus) (gene L230) - Mutations
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