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Page 1
Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.
Lin ZJ, Xu JM, Ji HY, Jiang YQ, Su J, Fan LL, Yu R. Lin ZJ, et al. Dis Markers. 2023 Feb 2;2023:3350685. doi: 10.1155/2023/3350685. eCollection 2023. Dis Markers. 2023. PMID: 36776921 Free PMC article.
Previous studies have revealed that mutations in the MYOT gene may lead to several kinds of hereditary myopathies. However, whether the autophagy played a crucial role in hereditary myopathy caused by MYOT mutations was still not clear. ...Hence, our study may first …
Previous studies have revealed that mutations in the MYOT gene may lead to several kinds of hereditary myopathies. However, whether t …
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, Marchetto G, Tomelleri G, Tonin P, Schiavone M, Vattemi G. Guglielmi V, et al. Clin Genet. 2023 Dec;104(6):705-710. doi: 10.1111/cge.14413. Epub 2023 Aug 8. Clin Genet. 2023. PMID: 37553249
Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including proximal limb-girdle muscular dystrophy, spheroid body myopathy, and late-onset distal myopathy. ...We identify MYOT novel Tyr4_His9 del …
Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including pro …
Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes.
Wannarong T, Milone M, Selcen D, Dyck PJB, Liewluck T. Wannarong T, et al. Neurology. 2025 Nov 25;105(10):e214255. doi: 10.1212/WNL.0000000000214255. Epub 2025 Nov 3. Neurology. 2025. PMID: 41183253
RESULTS: Eighty patients were identified; 56 were genetically characterized (23 with DES, 10 with MYOT, 9 with LDB3, 2 with FLNC, 2 with BAG3, 2 with CRYAB, 1 with FHL1, and 7 others). ...
RESULTS: Eighty patients were identified; 56 were genetically characterized (23 with DES, 10 with MYOT, 9 with LDB3, 2 with FLNC, 2 w …
VCP-related myopathy: a case series and a review of literature.
Iannibelli E, Gibertini S, Cheli M, Blasevich F, Cavaliere A, Riolo G, Ruggieri A, Maggi L. Iannibelli E, et al. Acta Myol. 2023 Mar 31;42(1):2-13. doi: 10.36185/2532-1900-244. eCollection 2023. Acta Myol. 2023. PMID: 37091525 Free PMC article. Review.
We analysed the patient' biopsies, all characterized by a muscular phenotype, and we executed immunofluorescence staining to evaluate the presence of proteins: p62, VCP, desmin, myotilin, TDP-43. Eventually we performed a brief literature review to compare our cases with t …
We analysed the patient' biopsies, all characterized by a muscular phenotype, and we executed immunofluorescence staining to evaluate the pr …
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Cannone E, Guglielmi V, Marchetto G, Tobia C, Gnutti B, Cisterna B, Tonin P, Barbon A, Vattemi G, Schiavone M. Cannone E, et al. Int J Mol Sci. 2023 Jul 14;24(14):11483. doi: 10.3390/ijms241411483. Int J Mol Sci. 2023. PMID: 37511242 Free PMC article.
Nevertheless, the mechanisms by which mutated genes result in protein aggregation are still unknown. To unveil the role of myotilin and alphaB-crystallin in the pathogenesis of MFM, we injected zebrafish fertilized eggs at the one-cell stage with expression plasmids harbor …
Nevertheless, the mechanisms by which mutated genes result in protein aggregation are still unknown. To unveil the role of myotilin a …
Doxorubicin and topotecan resistance in ovarian cancer: Gene expression and microenvironment analysis in 2D and 3D models.
Świerczewska M, Nowacka M, Stasiak P, Iżycki D, Sterzyńska K, Płóciennik A, Nowicki M, Januchowski R. Świerczewska M, et al. Biomed Pharmacother. 2025 Feb;183:117804. doi: 10.1016/j.biopha.2024.117804. Epub 2025 Jan 8. Biomed Pharmacother. 2025. PMID: 39787968 Free article.
Molecular analyses identified overexpression of essential drug resistance-related genes, including MDR1 and BCRP, and extracellular matrix (ECM) components, such as MYOT and SPP1, which were more pronounced in resistant cell lines. MDR1 and BCRP overexpression contribute t …
Molecular analyses identified overexpression of essential drug resistance-related genes, including MDR1 and BCRP, and extracellular matrix ( …
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR, Pan Y, Sniderman King L, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R, Hegde M. Nallamilli BRR, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2092-2104. doi: 10.1002/acn3.51896. Epub 2023 Sep 8. Ann Clin Transl Neurol. 2023. PMID: 37688281 Free PMC article.
Genes of other overlapping MD subtypes identified included PABPN1 (10.5%, 133), VCP (2.2%, 28), MYOT (1.2% 15), LDB3 (1.0%, 13), COL6A1 (1.5%, 19), FLNC (1.1%, 14), and DNAJB6 (0.8%, 10). ...
Genes of other overlapping MD subtypes identified included PABPN1 (10.5%, 133), VCP (2.2%, 28), MYOT (1.2% 15), LDB3 (1.0%, 13), COL6 …
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N, Carretero-Vilarroig L, Martí P, Azorín I, Frasquet M, Poyatos-García J, Portela S, Martínez-Vicente L, Argente-Escrig H, Sivera R, Vázquez-Costa JF, Tárrega M, Más-Estellés F, Vílchez R, Bataller L, Aller E, Diago L, Fores-Toribio L, Sevilla T, Vilchez JJ. Muelas N, et al. J Neurol. 2025 Jan 7;272(1):97. doi: 10.1007/s00415-024-12821-3. J Neurol. 2025. PMID: 39775307
Suspected pathogenic variants were identified in 68.7% of patients across 19 genes, but 85% concentrated in 8: MYH7, ANO5, DYSF, TTN, MYOT, HSPB1, GNE and HNRNPDL. Founder/cluster variants were found as well as overlap between myopathic and neurogenic processes. ...
Suspected pathogenic variants were identified in 68.7% of patients across 19 genes, but 85% concentrated in 8: MYH7, ANO5, DYSF, TTN, MYO …
The Human Myometrial Transcriptome and the DNA Methylome of Testosterone-treated Patients Resemble the Myometria from Fibroid Patients.
Paul EN, Carpenter TJ, Bossick A, Allo G, Wegienka GR, Teixeira JM. Paul EN, et al. Reprod Sci. 2025 Jul;32(7):2223-2232. doi: 10.1007/s43032-025-01893-9. Epub 2025 Jun 5. Reprod Sci. 2025. PMID: 40474053 Free PMC article.
We identified 1,321 differentially expressed protein-coding genes between MyoT and MyoN, while only 494 were found between MyoT and MyoF. Disease ontology analysis of MyoT vs. ...Fibroid associated genes including TGFbeta3, CCND1, SERPINE1, and FGFR1 were upr …
We identified 1,321 differentially expressed protein-coding genes between MyoT and MyoN, while only 494 were found between MyoT …
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
Piga D, Zanotti S, Ripolone M, Napoli L, Ciscato P, Gibertini S, Maggi L, Fortunato F, Rigamonti A, Ronchi D, Comi GP, Corti S, Sciacco M. Piga D, et al. Int J Mol Sci. 2024 Jun 14;25(12):6547. doi: 10.3390/ijms25126547. Int J Mol Sci. 2024. PMID: 38928252 Free PMC article.
In the proband's muscle biopsy, the expression of ZASP, myotilin, and desmin were increased. In our family, in addition to the earlier age of onset, the clinical picture is even more peculiar given the evidence, in one of the affected family members, of complete ophthalmop …
In the proband's muscle biopsy, the expression of ZASP, myotilin, and desmin were increased. In our family, in addition to the earlie …
17 results