Abstract
Delfien Syx, Marlies Colman, Zoë Malfait, Griet De Smet, Hannah C. de Hesselle, Elles Panen, Katherine Lachlan, Serdar Ceylaner, Erik Björck, Adila Al Kindy, Nursel Elcioglu, Ariana Kariminejad, Serwet Demirdas, Yuki Taga, Kazunori Mizuno, Shoruq Naji, Tim Van Damme, Sofie Symoens, Yoshihiro Ishikawa, Federico Forneris, Fransiska Malfait
Abstract
Authors
Institutions
No ROR-resolved institution is linked to this work yet.
Provenance
crossref
Confidence 100%
unpaywall
Confidence 95%
datacite
Confidence 0%
No local reference links have been materialized yet.
No local citing links have been materialized yet.
Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus
10.1007/s00198-009-1066-z · 2010
Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell
10.1002/jcb.10413 · 2003
Lysine post-translational modifications of collagen
10.1042/bse0520113 · 2012
A molecular ensemble in the rER for procollagen maturation
10.1016/j.bbamcr.2013.04.008 · 2013
Prolyl and lysyl hydroxylases in collagen synthesis
10.1111/exd.14197 · 2021
Full-Length Human Collagen Lysyl Hydroxylases
2020
Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis
10.1074/jbc.m307380200 · 2003
Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)
10.1016/j.jbc.2022.102713 · 2022
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome VI
10.1038/ng1192-228 · 1992
The 2017 international classification of the Ehlers–Danlos syndromes
10.1002/ajmg.c.31552 · 2017
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Clinical, molecular and biochemical delineation
10.1186/1750-1172-6-46 · 2011
10.1016/0945-053x(94)90130-9
10.1016/0945-053x(94)90130-9
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms
10.1002/humu.24456 · 2022
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
1997
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)
10.1007/s004030050287 · 1998
Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI
10.1016/s0945-053x(99)00055-4 · 2000
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl
10.1007/s00431-004-1407-z · 2004
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome
10.1097/aog.0b013e3181898cbf · 2009
Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers-Danlos Syndrome
10.1016/j.ejvs.2012.08.004 · 2012
A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation
10.1016/j.pediatrneurol.2014.06.020 · 2014
Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke
10.1007/s13312-017-1054-x · 2017
Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome
10.1136/bcr-2018-224423 · 2018
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing
10.3346/jkms.2020.35.e96 · 2020
Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene
10.1080/00015385.2020.1802904 · 2021
Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome
10.1016/j.ejmg.2021.104269 · 2021
Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos Syndrome
10.3389/fped.2022.813758 · 2022
Nevo syndrome
10.1097/00019605-199510000-00007 · 1995
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)
10.1002/ajmg.a.30529 · 2005
Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome
10.1002/ajmg.a.32997 · 2009
A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report
10.1002/ccr3.6760 · 2023
Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3
10.1038/s41467-018-05631-5 · 2018
SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants
10.1002/jbmr.3692 · 2019
Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation
10.1371/journal.pgen.1006002 · 2016
P3h3-null and Sc65-null mice phenocopy the collagen lysine under-hydroxylation and cross-linking abnormality of ehlers-danlos syndrome type VIA
10.1074/jbc.m116.762245 · 2017
Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER
10.1016/j.jbc.2021.100453 · 2021
Transcriptome profiling of primary skin fibroblasts reveal distinct molecular features between PLOD1-and FKBP14-kyphoscoliotic Ehlers–Danlos syndrome
10.3390/genes10070517 · 2019
Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation
2025
Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding
10.1074/jbc.m111.333336 · 2012
Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome
10.1186/s12917-015-0318-8 · 2015
Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice
10.1074/jbc.m608830200 · 2007
Features and development of Coot
10.1107/s0907444910007493 · doi-reference
10.1007/978-1-0716-2974-1_20
10.1007/978-1-0716-2974-1_20 · doi-reference
ColabFold: making protein folding accessible to all
10.1038/s41592-022-01488-1 · doi-reference
Highly accurate protein structure prediction for the human proteome
10.1038/s41586-021-03828-1 · doi-reference
Development of a Novel Method for Analyzing Collagen O-glycosylations by Hydrazide Chemistry
10.1074/mcp.m111.010397 · doi-reference
Stable Isotope-Labeled Collagen: A Novel and Versatile Tool for Quantitative Collagen Analyses Using Mass Spectrometry
10.1021/pr500213a · doi-reference
Suppression of fibroblast proliferation and lysyl hydroxylase activity by minoxidil
10.1016/s0021-9258(18)45304-5 · doi-reference
The Expression of a Functional, Secreted Human Lysyl Hydroxylase in a Baculovirus System
10.1111/1523-1747.ep12326956 · doi-reference
Ehlers-Danlos syndrome type VI: cross-link pattern in tissue and urine sample as a diagnostic marker
10.1016/0190-9622(95)91404-8 · doi-reference
Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome
10.1093/hmg/ddz024 · doi-reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · doi-reference
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient
10.1111/j.0022-202x.2005.23727.x · doi-reference
Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?
10.1136/jmg.26.1.51 · doi-reference
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome
10.1002/humu.24258 · doi-reference
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta
10.1371/journal.pgen.1004465 · doi-reference
Severe osteogenesis imperfecta in cyclophilin B-deficient mice
10.1371/journal.pgen.1000750 · doi-reference