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ADAMTS proteins in human disorders.
Mead TJ, Apte SS. Mead TJ, et al. Matrix Biol. 2018 Oct;71-72:225-239. doi: 10.1016/j.matbio.2018.06.002. Epub 2018 Jun 6. Matrix Biol. 2018. PMID: 29885460 Free PMC article. Review.
Indeed, Mendelian disorders or birth defects resulting from naturally occurring ADAMTS2, ADAMTS3, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS20, ADAMTSL2 and ADAMTSL4 mutations as well as numerous phenotypes identified in genetically engineered mice have revealed ADAMTS participa …
Indeed, Mendelian disorders or birth defects resulting from naturally occurring ADAMTS2, ADAMTS3, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS20, …
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS. Zhang A, et al. J Biol Chem. 2020 Nov 13;295(46):15742-15753. doi: 10.1074/jbc.RA120.014557. Epub 2020 Sep 10. J Biol Chem. 2020. PMID: 32913123 Free PMC article.
To investigate the effects of TSR glycosylation on ADAMTSL2 function, we used MS to identify glycan modifications at predicted consensus sequences on mouse ADAMTSL2. We found that most TSRs were modified with the GlcFuc disaccharide at high stoichiometry at O-fucosy …
To investigate the effects of TSR glycosylation on ADAMTSL2 function, we used MS to identify glycan modifications at predicted consen …
The relationship of ADAMTSL2 and LRPAP1 gene methylation level with rheumatoid arthritis activity.
Podgórska D, Cieśla M, Majdan M, Podgórski R, Kolarz B. Podgórska D, et al. Clin Exp Rheumatol. 2022 Nov;40(11):2052-2059. doi: 10.55563/clinexprheumatol/ogk9sd. Epub 2021 Dec 22. Clin Exp Rheumatol. 2022. PMID: 34936547
RESULTS: We observed a significant difference in the methylation levels of both the ADAMTSL2 and the LRPAP1 genes in patients with high RA activity compared to patients in remission. CONCLUSIONS: ADAMTSL2 methylation status was inversely correlated with DAS28. High …
RESULTS: We observed a significant difference in the methylation levels of both the ADAMTSL2 and the LRPAP1 genes in patients with hi …
Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
Liu B, Zhao S, Liu L, Du H, Zhao H, Wang S, Niu Y, Li X, Qiu G; Deciphering disorders Involving Scoliosis COmorbidities (DISCO) study group; Wu Z, Zhang TJ, Wu N. Liu B, et al. Gene. 2022 Mar 10;814:146126. doi: 10.1016/j.gene.2021.146126. Epub 2021 Dec 24. Gene. 2022. PMID: 34958866 Free article.
Furthermore, we revealed that the variant pairs identified in these genes could affect the interaction between ADAMTSL2 and LTBP4 and upregulate TGF-beta signaling pathway in human fibroblasts. Our findings implicate that the aberrant interaction between mutated ADAMTSL …
Furthermore, we revealed that the variant pairs identified in these genes could affect the interaction between ADAMTSL2 and LTBP4 and …
The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFβ signalling in cardiac fibroblasts.
Rypdal KB, Erusappan PM, Melleby AO, Seifert DE, Palmero S, Strand ME, Tønnessen T, Dahl CP, Almaas V, Hubmacher D, Apte SS, Christensen G, Lunde IG. Rypdal KB, et al. Sci Rep. 2021 Oct 5;11(1):19757. doi: 10.1038/s41598-021-99032-2. Sci Rep. 2021. PMID: 34611183 Free PMC article.
Over-expression and treatment with extracellular ADAMTSL2 in human CFBs led to reduced TGFbeta production and signalling. ...Finally, ADAMTSL2 mitigated the pro-fibrotic CFB phenotypes, proliferation, migration and contractility. ...
Over-expression and treatment with extracellular ADAMTSL2 in human CFBs led to reduced TGFbeta production and signalling. ...Finally, …
Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
Hubmacher D, Taye N, Balic Z, Thacker S, Adams SM, Birk DE, Schweitzer R, Apte SS. Hubmacher D, et al. Matrix Biol. 2019 Sep;82:38-53. doi: 10.1016/j.matbio.2019.02.001. Epub 2019 Feb 7. Matrix Biol. 2019. PMID: 30738849 Free PMC article.
Geleophysic dysplasia results from dominant fibrillin-1 (FBN1) or recessive ADAMTSL2 mutations, suggesting a functional link between ADAMTSL2 and fibrillin microfibrils. ...Here, detailed expression analysis of Adamtsl2 using an intragenic lacZ reporter shows …
Geleophysic dysplasia results from dominant fibrillin-1 (FBN1) or recessive ADAMTSL2 mutations, suggesting a functional link between …
Molecular Cloning, Lentiviral Transduction, and Expression of Recombinant ADAMTSL2 and ADAMTSL4.
Singh M, Cain SA, Baldock C. Singh M, et al. Methods Mol Biol. 2020;2043:137-155. doi: 10.1007/978-1-4939-9698-8_12. Methods Mol Biol. 2020. PMID: 31463909
Here we detail the protocols involved in the molecular cloning of ADAMTSL2 and ADAMTSL4 into the human immunodeficiency virus (HIV)-derived pCDH lentiviral system. We also describe the lentiviral transduction of ADAMTSL2 and ADAMTSL4 into mammalian HEK293-EBNA cells …
Here we detail the protocols involved in the molecular cloning of ADAMTSL2 and ADAMTSL4 into the human immunodeficiency virus (HIV)-d …
Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics.
Dubail J, Apte SS. Dubail J, et al. Matrix Biol. 2015 May-Jul;44-46:24-37. doi: 10.1016/j.matbio.2015.03.001. Epub 2015 Mar 11. Matrix Biol. 2015. PMID: 25770910 Free article. Review.
The clinical manifestations of Mendelian disorders resulting from mutations in ADAMTS2, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2 and ADAMTSL4 identified essential roles for each gene, but also suggested potential cooperative functions of ADAMTS proteins. These observations w …
The clinical manifestations of Mendelian disorders resulting from mutations in ADAMTS2, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2 and AD …
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Marzin P, et al. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082559 Free article.
METHODS: This monocentric retrospective study was conducted between January 2008 and December 2018 in a pediatric tertiary care center and included patients with AD or GD with identified variants (FBN1, LTBP3, or ADAMTSL2). RESULTS: Twenty-two patients with GD (12 ADAMT …
METHODS: This monocentric retrospective study was conducted between January 2008 and December 2018 in a pediatric tertiary care center and i …
ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
Steinle J, Hossain WA, Lovell S, Veatch OJ, Butler MG. Steinle J, et al. Am J Med Genet A. 2021 Mar;185(3):743-752. doi: 10.1002/ajmg.a.62030. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369194 Free PMC article.
A family with three affected members over two generations with features of Dermatosparaxic EDS (dEDS) autosomal dominant transmission was reported by Desai et al. and having a heterozygous nonsynonymous missense variant of ADAMTSL2 (c.1261G > A; p. Gly421Ser). Variation …
A family with three affected members over two generations with features of Dermatosparaxic EDS (dEDS) autosomal dominant transmission was re …
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