| Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation. | Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation.
Wang L, Tsakiroglou P, Gonzales R, Cho S, Li A, Dos Remedios C, Wright N, Kontrogianni-Konstantopoulos A., Free PMC Article | 02/12/2024 |
| Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis. | Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis.
Zemorshidi F, Töpf A, Claeys KG, McFarlane A, Patton A, Nafissi S, Straub V. | 01/29/2024 |
| Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. | Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. | 11/26/2022 |
| When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. | When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability.
Fukuzawa A, Koch D, Grover S, Rees M, Gautel M., Free PMC Article | 03/12/2022 |
| Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy. | Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy.
Wu G, Liu J, Liu M, Huang Q, Ruan J, Zhang C, Wang D, Sun X, Jiang W, Kang L, Wang J, Song L. | 02/19/2022 |
| Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer. | Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer.
Tuntithavornwat S, Shea DJ, Wong BS, Guardia T, Lee SJ, Yankaskas CL, Zheng L, Kontrogianni-Konstantopoulos A, Konstantopoulos K., Free PMC Article | 02/5/2022 |
| Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy. | Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy.
Chen P, Xiao Y, Wang Y, Zheng Z, Chen L, Yang X, Li J, Wu W, Zhang S., Free PMC Article | 06/12/2021 |
| This study finds in all cases tested that tandem obscurin Ig domains interact at the poles of each domain and tend to stay relatively extended in solution. NMR, SAXS, and MD simulations reveal that while tandem domains are elongated, they also bend and flex significantly. | Obscurin is a semi-flexible molecule in solution.
Whitley JA, Ex-Willey AM, Marzolf DR, Ackermann MA, Tongen AL, Kokhan O, Wright NT., Free PMC Article | 04/11/2020 |
| association of frameshift and splicing variants, all clustering to the C terminus of the same isoform group, with occurrence of rare left ventricular noncompaction phenotype | Obscurin Variants in Patients With Left Ventricular Noncompaction.
Rowland TJ, Graw SL, Sweet ME, Gigli M, Taylor MR, Mestroni L., Free PMC Article | 08/11/2018 |
| demonstrate that loss of giant obscurins from breast epithelial cells is associated with significantly increased phosphorylation and subsequent activation of the PI3K signaling cascade | Giant obscurins regulate the PI3K cascade in breast epithelial cells via direct binding to the PI3K/p85 regulatory subunit.
Shriver M, Marimuthu S, Paul C, Geist J, Seale T, Konstantopoulos K, Kontrogianni-Konstantopoulos A., Free PMC Article | 02/3/2018 |
| suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family | A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V., Free PMC Article | 11/26/2017 |
| Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence. | Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.
Pernigo S, Fukuzawa A, Beedle AEM, Holt M, Round A, Pandini A, Garcia-Manyes S, Gautel M, Steiner RA., Free PMC Article | 10/21/2017 |
| OBSCN mutations may result in the development of a familial dilated cardiomyopathy (DCM) phenotype via haploinsufficiency. These mutations should be considered as a significant causal factor of DCM, alone or in concert with other mutations. | OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
Marston S, Montgiraud C, Munster AB, Copeland O, Choi O, Dos Remedios C, Messer AE, Ehler E, Knöll R., Free PMC Article | 05/28/2016 |
| Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for obscurin. | Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia.
Kiando SR, Barlassina C, Cusi D, Galan P, Lathrop M, Plouin PF, Jeunemaitre X, Bouatia-Naji N. | 04/16/2016 |
| Findings indicate that loss of giant obscurins from breast epithelium results in disruption of the cell-cell contacts and acquisition of a mesenchymal phenotype that leads to enhanced tumorigenesis, migration and invasiveness in vitro and in vivo. | Loss of giant obscurins from breast epithelium promotes epithelial-to-mesenchymal transition, tumorigenicity and metastasis.
Shriver M, Stroka KM, Vitolo MI, Martin S, Huso DL, Konstantopoulos K, Kontrogianni-Konstantopoulos A., Free PMC Article | 11/28/2015 |
| Loss of the obscurin-RhoGEF downregulates RhoA signaling and increases microtentacle formation and attachment of breast epithelial cells. | Loss of the obscurin-RhoGEF downregulates RhoA signaling and increases microtentacle formation and attachment of breast epithelial cells.
Perry NA, Vitolo MI, Martin SS, Kontrogianni-Konstantopoulos A., Free PMC Article | 06/27/2015 |
| this study presents here the X-ray structure of the human titin:obscurin M10:O1 complex extending our previous work on the M10:OL1 interaction. | The crystal structure of the human titin:obscurin complex reveals a conserved yet specific muscle M-band zipper module.
Pernigo S, Fukuzawa A, Pandini A, Holt M, Kleinjung J, Gautel M, Steiner RA. | 05/2/2015 |
| Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover | Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover.
Lange S, Perera S, Teh P, Chen J., Free PMC Article | 11/17/2012 |
| Nontumorigenic MCF10A breast epithelial cells stably transduced with shRNAs targeting giant obscurins exhibited increased viability ( approximately 30%) and reduced apoptosis ( approximately 20%) following exposure to the DNA-damaging agent etoposide. | Loss of giant obscurins promotes breast epithelial cell survival through apoptotic resistance.
Perry NA, Shriver M, Mameza MG, Grabias B, Balzer E, Kontrogianni-Konstantopoulos A., Free PMC Article | 09/22/2012 |
| OBSCN polymorphisms, in particular, highly conserved nonsynonymous Leu2116Phe variant, might contribute to aspirin hypersensitivity in asthmatics | Contribution of the OBSCN nonsynonymous variants to aspirin exacerbated respiratory disease susceptibility in Korean population.
Kim JH, Park BL, Pasaje CF, Kim Y, Bae JS, Park JS, Uh ST, Kim YH, Kim MK, Choi IS, Cho SH, Choi BW, Koh I, Park CS, Shin HD., Free PMC Article | 09/15/2012 |
| Results describe the molecular basis for the head-to-tail interaction of the carboxyl terminus of titin and the amino-terminus of obscurin-like-1 by X-ray crystallography. | Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin.
Sauer F, Vahokoski J, Song YH, Wilmanns M., Free PMC Article | 10/4/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| These findings reveal a novel signaling pathway in human skeletal muscle that involves obscurin and the Rho GTPase TC10 and implicate this pathway in new sarcomere formation. | TC10 controls human myofibril organization and is activated by the sarcomeric RhoGEF obscurin.
Coisy-Quivy M, Touzet O, Bourret A, Hipskind RA, Mercier J, Fort P, Philips A., Free PMC Article | 01/21/2010 |
| Obscurin was never lacking in myofibrillar alterations, but was either preserved at the M-band level or diffusely spread over the sarcomeres. | New aspects of obscurin in human striated muscles.
Carlsson L, Yu JG, Thornell LE. | 01/21/2010 |
| Structural and mutational studies of the binding region on small Ank1 for obscurin suggest that it consists of two ankyrin repeats with very similar structures. | Mapping the binding site on small ankyrin 1 for obscurin.
Borzok MA, Catino DH, Nicholson JD, Kontrogianni-Konstantopoulos A, Bloch RJ. | 01/21/2010 |