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Purification of Recombinant ADAMTSL2.
Singh M, Baldock C. Singh M, et al. Methods Mol Biol. 2020;2043:157-172. doi: 10.1007/978-1-4939-9698-8_13. Methods Mol Biol. 2020. PMID: 31463910
Here we detail the protocols involved in the purification of ADAMTSL2 from mammalian cells. We also describe the protocols used to validate the purity of the protein samples....
Here we detail the protocols involved in the purification of ADAMTSL2 from mammalian cells. We also describe the protocols used to va …
ADAMTSL2 protein and a soluble biomarker signature identify at-risk non-alcoholic steatohepatitis and fibrosis in adults with NAFLD.
Corey KE, Pitts R, Lai M, Loureiro J, Masia R, Osganian SA, Gustafson JL, Hutter MM, Gee DW, Meireles OR, Witkowski ER, Richards SM, Jacob J, Finkel N, Ngo D, Wang TJ, Gerszten RE, Ukomadu C, Jennings LL. Corey KE, et al. J Hepatol. 2022 Jan;76(1):25-33. doi: 10.1016/j.jhep.2021.09.026. Epub 2021 Oct 1. J Hepatol. 2022. PMID: 34600973 Free PMC article.
An 8-protein panel distinguished NAFL/NASH F0-1 from at-risk NASH (AUROCs 0.90 and 0.87 in Cohort C and D, respectively) and NASH F2-3 (AUROCs 0.89 and 0.83 in Cohorts C and D, respectively). The 8-protein panel and ADAMTSL2 protein had superior performance to the NAFLD fi …
An 8-protein panel distinguished NAFL/NASH F0-1 from at-risk NASH (AUROCs 0.90 and 0.87 in Cohort C and D, respectively) and NASH F2-3 (AURO …
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, …
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Batkovskyte D, et al. J Bone Miner Res. 2023 May;38(5):692-706. doi: 10.1002/jbmr.4799. Epub 2023 Mar 27. J Bone Miner Res. 2023. PMID: 36896612 Free article.
Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal …
Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the famil …
A proteo-transcriptomic map of non-alcoholic fatty liver disease signatures.
Govaere O, Hasoon M, Alexander L, Cockell S, Tiniakos D, Ekstedt M, Schattenberg JM, Boursier J, Bugianesi E, Ratziu V; LITMUS Investigators; Daly AK, Anstee QM. Govaere O, et al. Nat Metab. 2023 Apr;5(4):572-578. doi: 10.1038/s42255-023-00775-1. Epub 2023 Apr 10. Nat Metab. 2023. PMID: 37037945 Free PMC article.
As an exemplar of use as a non-invasive diagnostic, logistic regression establishes a composite model comprising four proteins (ADAMTSL2, AKR1B10, CFHR4 and TREM2), body mass index and type 2 diabetes mellitus status, to identify at-risk steatohepatitis....
As an exemplar of use as a non-invasive diagnostic, logistic regression establishes a composite model comprising four proteins (ADAMTSL2 …
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 …
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 …
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
Delhon L, Mahaut C, Goudin N, Gaudas E, Piquand K, Le Goff W, Cormier-Daire V, Le Goff C. Delhon L, et al. FASEB J. 2019 Feb;33(2):2707-2718. doi: 10.1096/fj.201800753RR. Epub 2018 Oct 10. FASEB J. 2019. PMID: 30303737
Chondrocyte Adamtsl2 KO mice also exhibited dwarfism. These studies uncover the function of Adamtsl2 in the maintenance of the growth plate ECM by modulating the microfibrillar network....Impairment of chondrogenesis and microfibrillar network in Adamtsl2 def …
Chondrocyte Adamtsl2 KO mice also exhibited dwarfism. These studies uncover the function of Adamtsl2 in the maintenance of the …
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M. Camarena V, et al. JCI Insight. 2024 Feb 1;9(5):e174417. doi: 10.1172/jci.insight.174417. JCI Insight. 2024. PMID: 38300707 Free PMC article.
We developed and characterized cellular and mouse models, to replicate the genetic profile of a patient who is compound heterozygous for 2 ADAMTSL2 variants, namely p.R61H and p.A165T. The impairment of ADAMTSL2 secretion was observed in both variants, but p.A165T e …
We developed and characterized cellular and mouse models, to replicate the genetic profile of a patient who is compound heterozygous for 2 …
A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle.
Iwanaga Y, Tsuji K, Nishimura A, Tateishi K, Kakiuchi M, Tsuji T. Iwanaga Y, et al. Mamm Genome. 2023 Dec;34(4):559-571. doi: 10.1007/s00335-023-10016-1. Epub 2023 Sep 1. Mamm Genome. 2023. PMID: 37656189 Free PMC article.
These phenotypes are similar to those observed in humans and mice with ADAMTSL2/Adamtsl2 mutations. Moreover, stb/stb female mice exhibited severe uterine hypoplasia at 5 weeks of age and irregular estrous cycles at 10 weeks of age. In normal mice, Adamtsl2 w …
These phenotypes are similar to those observed in humans and mice with ADAMTSL2/Adamtsl2 mutations. Moreover, stb/stb female m …
75 results