{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:41:56Z","timestamp":1769906516357,"version":"3.49.0"},"reference-count":144,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T00:00:00Z","timestamp":1674777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia (FCT) through the Institute of Biomedicine (iBiMED)","award":["UIDB\/BIM\/04501\/2020\/UIDP\/04501\/2020"],"award-info":[{"award-number":["UIDB\/BIM\/04501\/2020\/UIDP\/04501\/2020"]}]},{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia (FCT) through the Institute of Biomedicine (iBiMED)","award":["(CENTRO-01-0246-FEDER-000018)"],"award-info":[{"award-number":["(CENTRO-01-0246-FEDER-000018)"]}]},{"name":"MEDISIS project","award":["UIDB\/BIM\/04501\/2020\/UIDP\/04501\/2020"],"award-info":[{"award-number":["UIDB\/BIM\/04501\/2020\/UIDP\/04501\/2020"]}]},{"name":"MEDISIS project","award":["(CENTRO-01-0246-FEDER-000018)"],"award-info":[{"award-number":["(CENTRO-01-0246-FEDER-000018)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary disease caused by abnormal expansion of unstable CTG repeats in the 3\u2032 untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. This disease mainly affects skeletal muscle, resulting in myotonia, progressive distal muscle weakness, and atrophy, but also affects other tissues and systems, such as the heart and central nervous system. Despite some studies reporting therapeutic strategies for DM1, many issues remain unsolved, such as the contribution of metabolic and mitochondrial dysfunctions to DM1 pathogenesis. Therefore, it is crucial to identify molecular target candidates associated with metabolic processes for DM1. In this study, resorting to a bibliometric analysis, articles combining DM1, and metabolic\/metabolism terms were identified and further analyzed using an unbiased strategy of automatic text mining with VOSviewer software. A list of candidate molecular targets for DM1 associated with metabolic\/metabolism was generated and compared with genes previously associated with DM1 in the DisGeNET database. Furthermore, g:Profiler was used to perform a functional enrichment analysis using the Gene Ontology (GO) and REAC databases. Enriched signaling pathways were identified using integrated bioinformatics enrichment analyses. The results revealed that only 15 of the genes identified in the bibliometric analysis were previously associated with DM1 in the DisGeNET database. Of note, we identified 71 genes not previously associated with DM1, which are of particular interest and should be further explored. The functional enrichment analysis of these genes revealed that regulation of cellular metabolic and metabolic processes were the most associated biological processes. Additionally, a number of signaling pathways were found to be enriched, e.g., signaling by receptor tyrosine kinases, signaling by NRTK1 (TRKA), TRKA activation by NGF, PI3K-AKT activation, prolonged ERK activation events, and axon guidance. Overall, several valuable target candidates related to metabolic processes for DM1 were identified, such as NGF, NTRK1, RhoA, ROCK1, ROCK2, DAG, ACTA, ID1, ID2 MYOD, and MYOG. Therefore, our study strengthens the hypothesis that metabolic dysfunctions contribute to DM1 pathogenesis, and the exploitation of metabolic dysfunction targets is crucial for the development of future therapeutic interventions for DM1.<\/jats:p>","DOI":"10.3390\/ijerph20032283","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T03:31:11Z","timestamp":1675049471000},"page":"2283","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Automatic Text-Mining Approach to Identify Molecular Target Candidates Associated with Metabolic Processes for Myotonic Dystrophy Type 1"],"prefix":"10.3390","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7813-8881","authenticated-orcid":false,"given":"Dhvani H.","family":"Kuntawala","sequence":"first","affiliation":[{"name":"Medical Sciences Department, Institute of Biomedicine\u2014iBiMED, University of Aveiro, 3810-183 Aveiro, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3277-1809","authenticated-orcid":false,"given":"Filipa","family":"Martins","sequence":"additional","affiliation":[{"name":"Medical Sciences Department, Institute of Biomedicine\u2014iBiMED, University of Aveiro, 3810-183 Aveiro, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3636-5805","authenticated-orcid":false,"given":"Rui","family":"Vitorino","sequence":"additional","affiliation":[{"name":"Medical Sciences Department, Institute of Biomedicine\u2014iBiMED, University of Aveiro, 3810-183 Aveiro, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5862-5797","authenticated-orcid":false,"given":"Sandra","family":"Rebelo","sequence":"additional","affiliation":[{"name":"Medical Sciences Department, Institute of Biomedicine\u2014iBiMED, University of Aveiro, 3810-183 Aveiro, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1034\/j.1399-0004.2001.590508.x","article-title":"Epidemiology of Myotonic Dystrophy in Italy: Re-Apprisal after Genetic Diagnosis","volume":"59","author":"Siciliano","year":"2001","journal-title":"Clin. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e1045","DOI":"10.1212\/WNL.0000000000011425","article-title":"Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program","volume":"96","author":"Johnson","year":"2021","journal-title":"Neurology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1212\/CPJ.0000000000000646","article-title":"Consensus-Based Care Recommendations for Congenital and Childhood-Onset Myotonic Dystrophy Type 1","volume":"9","author":"Johnson","year":"2019","journal-title":"Neurol. Clin. Pract."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/355548a0","article-title":"Cloning of the Essential Myotonic Dystrophy Region and Mapping of the Putative Defect","volume":"355","author":"Aslanidis","year":"1992","journal-title":"Nature"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1126\/science.1546326","article-title":"An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy","volume":"255","author":"Fu","year":"1992","journal-title":"Science"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.gde.2017.01.007","article-title":"Myotonic Dystrophy: Disease Repeat Range, Penetrance, Age of Onset, and Relationship between Repeat Size and Phenotypes","volume":"44","author":"Yum","year":"2017","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.neurol.2016.08.003","article-title":"Unravelling the Myotonic Dystrophy Type 1 Clinical Spectrum: A Systematic Registry-Based Study with Implications for Disease Classification","volume":"172","author":"Dogan","year":"2016","journal-title":"Rev. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.cell.2016.07.031","article-title":"Metabolic Control of Longevity","volume":"166","author":"Galluzzi","year":"2016","journal-title":"Cell"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1016\/j.cmet.2018.05.011","article-title":"Hallmarks of Brain Aging: Adaptive and Pathological Modification by Metabolic States","volume":"27","author":"Mattson","year":"2018","journal-title":"Cell Metab."},{"key":"ref_10","first-page":"125","article-title":"Muscle Wasting in Myotonic Dystrophies: A Model of Premature Aging","volume":"7","author":"Goicoechea","year":"2015","journal-title":"Front. Aging Neurosci."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1097\/WCO.0000000000000128","article-title":"Myotonic Dystrophy: Diagnosis, Management and New Therapies","volume":"27","author":"Turner","year":"2014","journal-title":"Curr. Opin. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1042\/BST0371281","article-title":"Pathogenic Mechanisms of Myotonic Dystrophy","volume":"37","author":"Lee","year":"2009","journal-title":"Biochem. Soc. Trans."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S1474-4422(12)70204-1","article-title":"The Myotonic Dystrophies: Molecular, Clinical, and Therapeutic Challenges","volume":"11","author":"Udd","year":"2012","journal-title":"Lancet Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.nmd.2022.03.003","article-title":"Serum MiRNAs as Biomarkers for the Rare Types of Muscular Dystrophy","volume":"32","author":"Koutsoulidou","year":"2022","journal-title":"Neuromuscul. Disord."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"3285","DOI":"10.1093\/hmg\/ddx212","article-title":"Identification of Exosomal Muscle-Specific MiRNAs in Serum of Myotonic Dystrophy Patients Relating to Muscle Disease Progress","volume":"26","author":"Koutsoulidou","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Koehorst, E., Ballester-lopez, A., Arechavala-gomeza, V., Mart\u00ednez-pi\u00f1eiro, A., and Nogales-gadea, G. (2020). The Biomarker Potential of Mirnas in Myotonic Dystrophy Type I. J. Clin. Med., 9.","DOI":"10.3390\/jcm9123939"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2953","DOI":"10.1007\/s10072-020-04409-2","article-title":"MyomiRNAs and Myostatin as Physical Rehabilitation Biomarkers for Myotonic Dystrophy","volume":"41","author":"Pegoraro","year":"2020","journal-title":"Neurol. Sci."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Espinosa-Espinosa, J., Gonz\u00e1lez-Barriga, A., L\u00f3pez-Castel, A., and Artero, R. (2022). Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23031441"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"6260","DOI":"10.18632\/aging.103022","article-title":"Myotonic Dystrophy Type 1 Cells Display Impaired Metabolism and Mitochondrial Dysfunction That Are Reversed by Metformin","volume":"12","author":"Matheu","year":"2020","journal-title":"Aging"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Garc\u00eda-Puga, M., Saenz-Anto\u00f1anzas, A., Matheu, A., and de Munain, A. (2022). Targeting Myotonic Dystrophy Type 1 with Metformin. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23052901"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1742-5581-3-1","article-title":"Scopus Database: A Review","volume":"3","author":"Burnham","year":"2006","journal-title":"Biomed. Digit. Libr."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1096\/fj.07-9492LSF","article-title":"Comparison of PubMed, Scopus, Web of Science, and Google Scholar: Strengths and Weaknesses","volume":"22","author":"Falagas","year":"2008","journal-title":"FASEB J."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s11192-009-0146-3","article-title":"Software Survey: VOSviewer, a Computer Program for Bibliometric Mapping","volume":"84","author":"Waltman","year":"2010","journal-title":"Scientometrics"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1177\/053901883022002003","article-title":"From Translations to Problematic Networks: An Introduction to Co-Word Analysis","volume":"22","author":"Callon","year":"1983","journal-title":"Soc. Sci. Inf."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/aris.1440370106","article-title":"Visualizing Knowledge Domains","volume":"37","author":"Chen","year":"2003","journal-title":"Annu. Rev. Inf. Sci. Technol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"D506","DOI":"10.1093\/nar\/gky1049","article-title":"UniProt: A Worldwide Hub of Protein Knowledge","volume":"47","author":"Bateman","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_27","first-page":"D845","article-title":"The DisGeNET Knowledge Platform for Disease Genomics: 2019 Update","volume":"48","author":"Ronzano","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2960","DOI":"10.1016\/j.csbj.2021.05.015","article-title":"The DisGeNET Cytoscape App: Exploring and Visualizing Disease Genomics Data","volume":"19","author":"Sanz","year":"2021","journal-title":"Comput. Struct. Biotechnol. J."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Bardou, P., Mariette, J., Escudi\u00e9, F., Djemiel, C., and Klopp, C. (2014). Jvenn: An Interactive Venn Diagram Viewer. BMC Bioinform., 15.","DOI":"10.1186\/1471-2105-15-293"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"3442","DOI":"10.1093\/nar\/28.18.3442","article-title":"String: A Web-Server to Retrieve and Display the Repeatedly Occurring Neighbourhood of a Gene","volume":"28","author":"Snel","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"W83","DOI":"10.1093\/nar\/gkw199","article-title":"G:Profiler\u2014A Web Server for Functional Interpretation of Gene Lists (2016 Update)","volume":"44","author":"Reimand","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2518","DOI":"10.1093\/nar\/gkz1238","article-title":"The Human ZC3H3 and RBM26\/27 Proteins Are Critical for PAXT-Mediated Nuclear RNA Decay","volume":"48","author":"Silla","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/s41419-019-1685-z","article-title":"MIR17HG-MiR-18a\/19a Axis, Regulated by Interferon Regulatory Factor-1, Promotes Gastric Cancer Metastasis via Wnt\/\u03b2-Catenin Signalling","volume":"10","author":"Yuan","year":"2019","journal-title":"Cell Death Dis."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.3389\/fneur.2019.01229","article-title":"Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1","volume":"10","author":"Nieuwenhuis","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s00401-010-0637-6","article-title":"Differences in Aberrant Expression and Splicing of Sarcomeric Proteins in the Myotonic Dystrophies DM1 and DM2","volume":"119","author":"Vihola","year":"2010","journal-title":"Acta Neuropathol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"e858","DOI":"10.1038\/cddis.2013.385","article-title":"Myotonic Dystrophy Protein Kinase (DMPK) Prevents ROS-Induced Cell Death by Assembling a Hexokinase II-Src Complex on the Mitochondrial Surface","volume":"4","author":"Pantic","year":"2013","journal-title":"Cell Death Dis."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"738978","DOI":"10.3389\/fcell.2021.738978","article-title":"RNA-Binding Proteins in the Post-Transcriptional Control of Skeletal Muscle Development, Regeneration and Disease","volume":"9","author":"Shi","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1002\/humu.21059","article-title":"Mutations and Polymorphisms of the Skeletal Muscle \u03b1-Actin Gene (ACTA1)","volume":"30","author":"Laing","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1021\/acs.jmedchem.7b01371","article-title":"Discovery of the First Potent, Selective, and Orally Bioavailable Signal Peptide Peptidase-Like 2a (SPPL2a) Inhibitor Displaying Pronounced Immunomodulatory Effects In Vivo","volume":"61","author":"Velcicky","year":"2018","journal-title":"J. Med. Chem."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"760","DOI":"10.21037\/tlcr.2019.10.10","article-title":"Silence of S1 RNA Binding Domain 1 Represses Cell Growth and Promotes Apoptosis in Human Non-Small Cell Lung Cancer Cells","volume":"8","author":"Zhang","year":"2019","journal-title":"Transl. Lung Cancer Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.3389\/fphys.2018.01532","article-title":"Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type","volume":"9","author":"Hintze","year":"2018","journal-title":"Front. Physiol."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"R\u00fcbben, A., Wahl, R.U., Eggermann, T., Dahl, E., Ortiz-Br\u00fcchle, N., and Cacchi, C. (2020). Mutation Analysis of Multiple Pilomatricomas in a Patient with Myotonic Dystrophy Type 1 Suggests a DM1-Associated Hypermutation Phenotype. PLoS ONE, 15.","DOI":"10.1101\/844647"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"e483","DOI":"10.1038\/cddis.2013.10","article-title":"Distinct Roles for ROCK1 and ROCK2 in the Regulation of Cell Detachment","volume":"4","author":"Shi","year":"2013","journal-title":"Cell Death Dis."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"26448","DOI":"10.1074\/jbc.M500373200","article-title":"Ubiquitin-Proteasome-Mediated Degradation, Intracellular Localization, and Protein Synthesis of MyoD and Id1 during Muscle Differentiation","volume":"280","author":"Sun","year":"2005","journal-title":"J. Biol. Chem."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.1471-4159.2011.07523.x","article-title":"Phosphorylation of Microtubule-Associated Protein Tau by AMPK-Related Kinases","volume":"120","author":"Yoshida","year":"2012","journal-title":"J. Neurochem."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"C473","DOI":"10.1152\/ajpcell.00158.2014","article-title":"Molecular Determinants of Force Production in Human Skeletal Muscle Fibers: Effects of Myosin Isoform Expression and Cross-Sectional Area","volume":"308","author":"Miller","year":"2015","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"e201911129","DOI":"10.1083\/jcb.201911129","article-title":"FXR1 Splicing Is Important for Muscle Development and Biomolecular Condensates in Muscle Cells","volume":"219","author":"Smith","year":"2020","journal-title":"J. Cell Biol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1073\/pnas.83.8.2714","article-title":"Studies on the Expression of the Beta Nerve Growth Factor (NGF) Gene in the Central Nervous System: Level and Regional Distribution of NGF MRNA Suggest That NGF Functions as a Trophic Factor for Several Distinct Populations of Neurons","volume":"83","author":"Shelton","year":"1986","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1261\/rna.859908","article-title":"An Intact Unfolded Protein Response in Trpt1 Knockout Mice Reveals Phylogenic Divergence in Pathways for RNA Ligation","volume":"14","author":"Harding","year":"2008","journal-title":"RNA"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1530\/REP-21-0463","article-title":"TCF3 Regulates Human Endometrial Stromal Cell Proliferation and Migration in RPL","volume":"163","author":"Wei","year":"2022","journal-title":"Reproduction"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s13578-020-00416-0","article-title":"RETRACTED ARTICLE: Roles of the PI3K\/AKT\/MTOR Signalling Pathways in Neurodegenerative Diseases and Tumours","volume":"10","author":"Xu","year":"2020","journal-title":"Cell Biosci."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"151242","DOI":"10.1016\/j.ejcb.2022.151242","article-title":"Roles of Hopx in the Differentiation and Functions of Immune Cells","volume":"101","author":"Bourque","year":"2022","journal-title":"Eur. J. Cell Biol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/s41419-020-03311-1","article-title":"GNA13 Regulates BCL2 Expression and the Sensitivity of GCB-DLBCL Cells to BCL2 Inhibitors in a Palmitoylation-Dependent Manner","volume":"12","author":"Xia","year":"2021","journal-title":"Cell Death Dis."},{"key":"ref_54","first-page":"3593","article-title":"ZNF24 Is Upregulated in Prostate Cancer and Facilitates the Epithelial-to-mesenchymal Transition through the Regulation of Twist1","volume":"19","author":"Huang","year":"2020","journal-title":"Oncol. Lett."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.apm.2019.05.028","article-title":"The Role of CD4 T Cells in Immune System Activation and Viral Reproduction in a Simple Model for HIV Infection","volume":"75","author":"Aavani","year":"2019","journal-title":"Appl. Math. Model."},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Gobbi, G., Galli, D., Carubbi, C., Neri, L.M., Masselli, E., Pozzi, G., Vitale, M., and Mirandola, P. (2018). PKC Proteins and Muscular Dystrophy. J. Funct. Morphol. Kinesiol., 3.","DOI":"10.3390\/jfmk3010012"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Mateus, T., Martins, F., Nunes, A., Herdeiro, M.T., and Rebelo, S. (2021). Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin. Int. J. Environ. Res. Public. Health, 18.","DOI":"10.3390\/ijerph18041794"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.devcel.2017.11.024","article-title":"CCPG1 Is a Non-Canonical Autophagy Cargo Receptor Essential for ER-Phagy and Pancreatic ER Proteostasis","volume":"44","author":"Smith","year":"2018","journal-title":"Dev. Cell"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"03000605211006598","DOI":"10.1177\/03000605211006598","article-title":"Heterozygous Desmin Gene (DES) Mutation Contributes to Familial Dilated Cardiomyopathy","volume":"49","author":"Huang","year":"2021","journal-title":"J. Int. Med. Res."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Mosaddeghzadeh, N., and Ahmadian, M.R. (2021). The RHO Family GTPases: Mechanisms of Regulation and Signaling. Cells, 10.","DOI":"10.3390\/cells10071831"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1080\/21541248.2014.1000699","article-title":"Myotonic Dystrophy Kinase-Related Cdc42-Binding Kinases (MRCK), the ROCK-like Effectors of Cdc42 and Rac1","volume":"6","author":"Zhao","year":"2015","journal-title":"Small GTPases"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1186\/s13046-021-02151-x","article-title":"The Emerging Role of ISWI Chromatin Remodeling Complexes in Cancer","volume":"40","author":"Li","year":"2021","journal-title":"J. Exp. Clin. Cancer Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"778","DOI":"10.4161\/epi.25441","article-title":"The Role of MyoD1 and Histone Modifications in the Activation of Muscle Enhancers","volume":"8","author":"Blum","year":"2013","journal-title":"Epigenetics"},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Shan, Z., Shakoori, A., Bodaghi, S., Goldsmith, P., Jin, J., and Wiest, J.S. (2013). TUSC1, a Putative Tumor Suppressor Gene, Reduces Tumor Cell Growth In Vitro and Tumor Growth In Vivo. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0066114"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"E009","DOI":"10.1017\/S0952523816000055","article-title":"CACNA1S Expression in Mouse Retina: Novel Isoforms and Antibody Cross-Reactivity with GPR179","volume":"33","author":"Hasan","year":"2016","journal-title":"Vis. Neurosci."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"836374","DOI":"10.1155\/2012\/836374","article-title":"Turning on Myogenin in Muscle: A Paradigm for Understanding Mechanisms of Tissue-Specific Gene Expression","volume":"2012","author":"Faralli","year":"2012","journal-title":"Comp. Funct. Genomics"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/nrd3321","article-title":"Ubiquitin-like Protein Conjugation and the Ubiquitin\u2013Proteasome System as Drug Targets","volume":"10","author":"Bedford","year":"2011","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/B978-0-12-397863-9.00004-3","article-title":"Chapter 4\u2014Interactions of the Proteasomal System with Chaperones: Protein Triage and Protein Quality Control","volume":"Volume 109","author":"Grune","year":"2012","journal-title":"The Proteasomal System in Aging and Disease"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"368","DOI":"10.3389\/fneur.2018.00368","article-title":"Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy","volume":"9","author":"Ausems","year":"2018","journal-title":"Front. Neurol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"3515","DOI":"10.1007\/s00018-019-03137-x","article-title":"Protein Cytl1: Its Role in Chondrogenesis, Cartilage Homeostasis, and Disease","volume":"76","author":"Zhu","year":"2019","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"624","DOI":"10.3389\/fneur.2020.00624","article-title":"Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1","volume":"11","author":"Simoncini","year":"2020","journal-title":"Front. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Sen, S., Dong, M., and Kumar, S. (2009). Isoform-Specific Contributions of \u03b1-Actinin to Glioma Cell Mechanobiology. PLoS ONE, 4.","DOI":"10.1371\/journal.pone.0008427"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"20235","DOI":"10.18632\/aging.103772","article-title":"ARHGEF11 Promotes Proliferation and Epithelial-Mesenchymal Transition of Hepatocellular Carcinoma through Activation of \u03b2-Catenin Pathway","volume":"12","author":"Du","year":"2020","journal-title":"Aging"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"644737","DOI":"10.3389\/fonc.2021.644737","article-title":"PIK3CA Mutations as a Molecular Target for Hormone Receptor-Positive, HER2-Negative Metastatic Breast Cancer","volume":"11","author":"Fusco","year":"2021","journal-title":"Front. Oncol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1186\/s12935-021-02305-z","article-title":"CEBPG Promotes Acute Myeloid Leukemia Progression by Enhancing EIF4EBP1","volume":"21","author":"Jiang","year":"2021","journal-title":"Cancer Cell Int."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.3802\/jgo.2020.31.e11","article-title":"LAMC1 Is a Prognostic Factor and a Potential Therapeutic Target in Endometrial Cancer","volume":"31","author":"Kunitomi","year":"2020","journal-title":"J. Gynecol. Oncol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"795840","DOI":"10.3389\/fnmol.2022.795840","article-title":"AFF2 Is Associated With X-Linked Partial (Focal) Epilepsy with Antecedent Febrile Seizures","volume":"15","author":"Zou","year":"2022","journal-title":"Front. Mol. Neurosci."},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Souidi, A., Zmojdzian, M., and Jagla, K. (2018). Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19124104"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.molcel.2008.08.001","article-title":"CCAR1, a Key Regulator of Mediator Complex Recruitment to Nuclear Receptor Transcription Complexes","volume":"31","author":"Kim","year":"2008","journal-title":"Mol. Cell"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"e72202","DOI":"10.7554\/eLife.72202","article-title":"The Mitotic Spindle Protein CKAP2 Potently Increases Formation and Stability of Microtubules","volume":"11","author":"McAlear","year":"2022","journal-title":"eLife"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"5358","DOI":"10.1002\/j.1460-2075.1995.tb00220.x","article-title":"The Fragile X Mental Retardation Syndrome Protein Interacts with Novel Homologs FXR1 and FXR2","volume":"14","author":"Zhang","year":"1995","journal-title":"EMBO J."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s13073-016-0394-9","article-title":"De Novo and Rare Mutations in the HSPA1L Heat Shock Gene Associated with Inflammatory Bowel Disease","volume":"9","author":"Takahashi","year":"2017","journal-title":"Genome Med."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s40478-016-0407-3","article-title":"Mutant HSPB1 Causes Loss of Translational Repression by Binding to PCBP1, an RNA Binding Protein with a Possible Role in Neurodegenerative Disease","volume":"5","author":"Geuens","year":"2017","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"5149","DOI":"10.1210\/endo.142.12.8548","article-title":"Regulation of Id2 Gene Expression by the Type 1 IGF Receptor and the Insulin Receptor Substrate-1","volume":"142","author":"Navarro","year":"2001","journal-title":"Endocrinology"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1179547620948666","DOI":"10.1177\/1179547620948666","article-title":"Understanding What You Have Found: A Family with a Mutation in the LAMA1 Gene with Literature Review","volume":"13","author":"Elmas","year":"2020","journal-title":"Clin. Med. Insights Case Rep."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"15330338211004944","DOI":"10.1177\/15330338211004944","article-title":"LAMB1 Is Related to the T Stage and Indicates Poor Prognosis in Gastric Cancer","volume":"20","author":"Ran","year":"2021","journal-title":"Technol. Cancer Res. Treat."},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Campbell, C.S., Hombauer, H., Srivatsan, A., Bowen, N., Gries, K., Desai, A., Putnam, C.D., and Kolodner, R.D. (2014). Mlh2 Is an Accessory Factor for DNA Mismatch Repair in Saccharomyces Cerevisiae. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004327"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.nmd.2012.01.003","article-title":"Cerebral and Muscle MRI Abnormalities in Myotonic Dystrophy","volume":"22","author":"Franc","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"e1320","DOI":"10.1002\/mgg3.1320","article-title":"MYH2 Myopathy, a New Case Expands the Clinical and Pathological Spectrum of the Recessive Form","volume":"8","author":"Telese","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"viii5","DOI":"10.1093\/annonc\/mdz383","article-title":"Tropomyosin Receptor Kinase (TRK) Biology and the Role of NTRK Gene Fusions in Cancer","volume":"30","author":"Amatu","year":"2019","journal-title":"Ann. Oncol."},{"key":"ref_91","first-page":"2013","article-title":"Role of RNA-binding Protein 5 in the Diagnosis and Chemotherapeutic Response of Lung Cancer (Review)","volume":"17","author":"Xu","year":"2019","journal-title":"Oncol. Lett."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"6043","DOI":"10.1242\/jcs.01523","article-title":"The Human Histone Gene Expression Regulator HBP\/SLBP Is Required for Histone and DNA Synthesis, Cell Cycle Progression and Cell Proliferation in Mitotic Cells","volume":"117","author":"Zhao","year":"2004","journal-title":"J. Cell Sci."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1161\/ATVBAHA.119.313470","article-title":"Taking One Step Back in Familial Hypercholesterolemia","volume":"40","author":"Loaiza","year":"2020","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"19392","DOI":"10.1074\/jbc.M117.802884","article-title":"STAP-2 Protein Promotes Prostate Cancer Growth by Enhancing Epidermal Growth Factor Receptor Stabilization","volume":"292","author":"Kitai","year":"2017","journal-title":"J. Biol. Chem."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"5283","DOI":"10.1038\/onc.2012.543","article-title":"STK38 Is a Critical Upstream Regulator of MYC\u2019s Oncogenic Activity in Human B-Cell Lymphoma","volume":"32","author":"Bisikirska","year":"2013","journal-title":"Oncogene"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"3668","DOI":"10.1182\/blood-2011-11-366062","article-title":"Dysfunction of the TP53 Tumor Suppressor Gene in Lymphoid Malignancies","volume":"119","author":"Medeiros","year":"2012","journal-title":"Blood"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.3389\/fphys.2021.747214","article-title":"Troponin Variants as Markers of Skeletal Muscle Health and Diseases","volume":"12","author":"Rasmussen","year":"2021","journal-title":"Front. Physiol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"992","DOI":"10.3389\/fneur.2019.00992","article-title":"TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2","volume":"10","author":"Renna","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1093\/hmg\/ddr515","article-title":"Activation of the Innate Immune Response and Interferon Signalling in Myotonic Dystrophy Type 1 and Type 2 Cataracts","volume":"21","author":"Rhodes","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"3152","DOI":"10.1093\/nar\/gkx1304","article-title":"An Engineered RNA Binding Protein with Improved Splicing Regulation","volume":"46","author":"Hale","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/s41419-020-2552-7","article-title":"ZNF746\/PARIS Overexpression Induces Cellular Senescence through FoxO1\/P21 Axis Activation in Myoblasts","volume":"11","author":"Bae","year":"2020","journal-title":"Cell Death Dis."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s00421-017-3558-4","article-title":"Electromechanical Delays during a Fatiguing Exercise and Recovery in Patients with Myotonic Dystrophy Type 1","volume":"117","author":"Esposito","year":"2017","journal-title":"Eur. J. Appl. Physiol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1212\/CON.0000000000000793","article-title":"Myotonic Muscular Dystrophies","volume":"25","author":"Johnson","year":"2019","journal-title":"Contin. Lifelong Learn. Neurol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"20333","DOI":"10.1073\/pnas.0809045105","article-title":"A Postnatal Switch of CELF and MBNL Proteins Reprograms Alternative Splicing in the Developing Heart","volume":"105","author":"Kalsotra","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1016\/j.drudis.2018.08.004","article-title":"RNA-Mediated Therapies in Myotonic Dystrophy","volume":"23","author":"Overby","year":"2018","journal-title":"Drug Discov. Today"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1111\/brv.12674","article-title":"The Hallmarks of Myotonic Dystrophy Type 1 Muscle Dysfunction","volume":"96","author":"Ozimski","year":"2021","journal-title":"Biol. Rev."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.compbiomed.2016.07.015","article-title":"An Automated String-Based Approach to Extracting and Characterizing White Matter Fiber-Bundles","volume":"77","author":"Cauteruccio","year":"2016","journal-title":"Comput. Biol. Med."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"20160528","DOI":"10.1098\/rstb.2016.0528","article-title":"Therapeutic Potential of Heat Shock Protein Induction for Muscular Dystrophy and Other Muscle Wasting Conditions","volume":"373","author":"Thakur","year":"2017","journal-title":"Philos. Trans. R. Soc. B Biol. Sci."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s12192-008-0068-7","article-title":"Guidelines for the Nomenclature of the Human Heat Shock Proteins","volume":"14","author":"Kampinga","year":"2009","journal-title":"Cell Stress Chaperones"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"C38","DOI":"10.1152\/ajpcell.00315.2009","article-title":"FOXO Signaling Is Required for Disuse Muscle Atrophy and Is Directly Regulated by Hsp70","volume":"298","author":"Senf","year":"2010","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"330","DOI":"10.3389\/fphys.2013.00330","article-title":"Skeletal Muscle Heat Shock Protein 70: Diverse Functions and Therapeutic Potential for Wasting Disorders","volume":"4","author":"Senf","year":"2013","journal-title":"Front. Physiol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1161\/CIRCRESAHA.118.312789","article-title":"Protein S-Nitrosylation Controls Glycogen Synthase Kinase 3\u03b2 Function Independent of Its Phosphorylation State","volume":"122","author":"Wang","year":"2018","journal-title":"Circ. Res."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1096\/fj.201700700R","article-title":"Correction of GSK3\u00df at Young Age Prevents Muscle Pathology in Mice with Myotonic Dystrophy Type 1","volume":"32","author":"Wei","year":"2018","journal-title":"FASEB J."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"603","DOI":"10.3233\/JND-200558","article-title":"Dysregulation of GSK3\u03b2-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients","volume":"8","author":"Grande","year":"2021","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"e00155-19","DOI":"10.1128\/MCB.00155-19","article-title":"Correction of Glycogen Synthase Kinase 3\u03b2 in Myotonic Dystrophy 1 Reduces the Mutant RNA and Improves Postnatal Survival of DMSXL Mice","volume":"39","author":"Mei","year":"2019","journal-title":"Mol. Cell. Biol."},{"key":"ref_116","doi-asserted-by":"crossref","unstructured":"Mirzoev, T.M., Sharlo, K.A., and Shenkman, B.S. (2021). The Role of GSK-3\u03b2 in the Regulation of Protein Turnover, Myosin Phenotype, and Oxidative Capacity in Skeletal Muscle under Disuse Conditions. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22105081"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1146\/annurev.neuro.24.1.677","article-title":"Neurotrophins: Roles in Neuronal Development and Function","volume":"24","author":"Huang","year":"2001","journal-title":"Annu. Rev. Neurosci."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/s41698-021-00206-y","article-title":"Genomic Context of NTRK1\/2\/3 Fusion-Positive Tumours from a Large Real-World Population","volume":"5","author":"Westphalen","year":"2021","journal-title":"NPJ Precis. Oncol."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/350158a0","article-title":"Tyrosine Phosphorylation and Tyrosine Kinase Activity of the Trk Proto-Oncogene Product Induced by NGF","volume":"350","author":"Kaplan","year":"1991","journal-title":"Nature"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1007\/s00018-006-6010-1","article-title":"Neurotrophin Signaling: Many Exciting Surprises!","volume":"63","author":"Wu","year":"2006","journal-title":"Cell. Mol. Life Sci. CMLS"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"23022","DOI":"10.1074\/jbc.271.38.23022","article-title":"Identification of the Rho-Binding Domain of P160ROCK, a Rho-Associated Coiled-Coil Containing Protein Kinase","volume":"271","author":"Fujisawa","year":"1996","journal-title":"J. Biol. Chem."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/S0960-9822(99)80067-0","article-title":"Transformation Mediated by RhoA Requires Activity of ROCK Kinases","volume":"9","author":"Sahai","year":"1999","journal-title":"Curr. Biol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1093\/emboj\/20.4.755","article-title":"Cross-Talk between Ras and Rho Signalling Pathways in Transformation Favours Proliferation and Increased Motility","volume":"20","author":"Sahai","year":"2001","journal-title":"EMBO J."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1083\/jcb.200409162","article-title":"Raf-1 Regulates Rho Signaling and Cell Migration","volume":"168","author":"Ehrenreiter","year":"2005","journal-title":"J. Cell Biol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"e000023","DOI":"10.1136\/esmoopen-2015-000023","article-title":"NTRK Gene Fusions as Novel Targets of Cancer Therapy across Multiple Tumour Types","volume":"1","author":"Amatu","year":"2016","journal-title":"ESMO Open"},{"key":"ref_126","first-page":"759","article-title":"Mechanisms Shaping the Role of ERK1\/2 in Cellular Senescence (Review)","volume":"19","author":"Zou","year":"2018","journal-title":"Mol. Med. Rep."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1016\/j.biocel.2010.08.010","article-title":"Altered Signal Transduction Pathways and Induction of Autophagy in Human Myotonic Dystrophy Type 1 Myoblasts","volume":"42","author":"Beffy","year":"2010","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"2480","DOI":"10.1001\/jama.2011.1796","article-title":"Cancer Risk Among Patients with Myotonic Muscular Dystrophy","volume":"306","author":"Gadalla","year":"2011","journal-title":"JAMA"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.mayocp.2011.09.005","article-title":"Increased Cancer Risks in Myotonic Dystrophy","volume":"87","author":"Win","year":"2012","journal-title":"Mayo Clin. Proc."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"pky052","DOI":"10.1093\/jncics\/pky052","article-title":"Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity","volume":"2","author":"Alsaggaf","year":"2018","journal-title":"JNCI Cancer Spectr."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.phrs.2012.04.005","article-title":"ERK1\/2 MAP Kinases: Structure, Function, and Regulation","volume":"66","author":"Roskoski","year":"2012","journal-title":"Pharmacol. Res."},{"key":"ref_132","doi-asserted-by":"crossref","unstructured":"Mao, Z., and Zhang, W. (2018). Role of MTOR in Glucose and Lipid Metabolism. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19072043"},{"key":"ref_133","doi-asserted-by":"crossref","unstructured":"Renna, L.V., Bos\u00e8, F., Brigonzi, E., Fossati, B., Meola, G., and Cardani, R. (2019). Aberrant Insulin Receptor Expression Is Associated with Insulin Resistance and Skeletal Muscle Atrophy in Myotonic Dystrophies. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0214254"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/mus.20444","article-title":"The Role of Neurotrophins in Muscle under Physiological and Pathological Conditions","volume":"33","author":"Chevrel","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"3620","DOI":"10.1091\/mbc.e09-01-0012","article-title":"The Low-Affinity Receptor for Neurotrophins P75NTR Plays a Key Role for Satellite Cell Function in Muscle Repair Acting via RhoA","volume":"20","author":"Deponti","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"ref_136","doi-asserted-by":"crossref","unstructured":"Romagnoli, C., Iantomasi, T., and Brandi, M.L. (2021). Available In Vitro Models for Human Satellite Cells from Skeletal Muscle. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms222413221"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13619-021-00093-5","article-title":"Master Regulators of Skeletal Muscle Lineage Development and Pluripotent Stem Cells Differentiation","volume":"10","author":"Relaix","year":"2021","journal-title":"Cell Regen."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/stem.775","article-title":"A Critical Requirement for Notch Signaling in Maintenance of the Quiescent Skeletal Muscle Stem Cell State","volume":"30","author":"Mourikis","year":"2012","journal-title":"Stem Cells"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1101\/gad.322818.118","article-title":"Oscillations of MyoD and Hes1 Proteins Regulate the Maintenance of Activated Muscle Stem Cells","volume":"33","author":"Lahmann","year":"2019","journal-title":"Genes Dev."},{"key":"ref_140","doi-asserted-by":"crossref","unstructured":"Borok, M.J., Mademtzoglou, D., and Relaix, F. (2020). Bu-M-P-Ing Iron: How BMP Signaling Regulates Muscle Growth and Regeneration. J. Dev. Biol., 8.","DOI":"10.3390\/jdb8010004"},{"key":"ref_141","doi-asserted-by":"crossref","unstructured":"Friedrichs, M., Wirsd\u00f6erfer, F., Floh\u00e9, S.B., Schneider, S., Wuelling, M., and Vortkamp, A. (2011). BMP Signaling Balances Proliferation and Differentiation of Muscle Satellite Cell Descendants. BMC Cell Biol., 12.","DOI":"10.1186\/1471-2121-12-26"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/cdd.2010.95","article-title":"BMP Signalling Permits Population Expansion by Preventing Premature Myogenic Differentiation in Muscle Satellite Cells","volume":"18","author":"Ono","year":"2010","journal-title":"Cell Death Differ."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"3050","DOI":"10.1242\/dev.137075","article-title":"Proliferation, Survival and Metabolism: The Role of PI3K\/AKT\/MTOR Signalling in Pluripotency and Cell Fate Determination","volume":"143","author":"Yu","year":"2016","journal-title":"Development"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.gene.2007.04.022","article-title":"Regulation of the Promoter of CUG Triplet Repeat Binding Protein, Cugbp1, during Myogenesis","volume":"396","author":"Huichalaf","year":"2007","journal-title":"Gene"}],"container-title":["International Journal of Environmental Research and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1660-4601\/20\/3\/2283\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:17:16Z","timestamp":1760120236000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1660-4601\/20\/3\/2283"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,27]]},"references-count":144,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,2]]}},"alternative-id":["ijerph20032283"],"URL":"https:\/\/doi.org\/10.3390\/ijerph20032283","relation":{},"ISSN":["1660-4601"],"issn-type":[{"value":"1660-4601","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,27]]}}}