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A Pilot Longitudinal Evaluation of MicroRNAs for Monitoring the Cognitive Impairment in Pediatric Multiple Sclerosis

Nicoletta Nuzziello, Arianna Consiglio, Rosa Gemma Viterbo, Flavio Licciulli, Sabino Liuni, Maria Trojano, Maria Liguori
2020 Applied Sciences  
; and the glia maturation factor beta gene (GMFB), which has been reported to be implicated in neurodegeneration and neuroinflammation.  ...  The analysis of mRNA expression uncovered 58 predicted and/or validated miRNA-target pairs, including 23 target genes, some of them already associated with cognitive impairment, such as the transducing  ...  Acknowledgments: The Authors are grateful to the MS patients and their families who kindly agreed to be part of the project. Conflicts of Interest: Authors declare no conflicts of interests.  ... 
doi:10.3390/app10228274 fatcat:424odsophrfbhorjj33fazpu4a

Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms

Claudia Figueroa-Romero, Junguk Hur, J. Simon Lunn, Ximena Paez-Colasante, Diane E. Bender, Raymond Yung, Stacey A. Sakowski, Eva L. Feldman
2016 Molecular and Cellular Neuroscience  
expression may result in the dysregulation of key genes and biological pathways that contribute to the development of sporadic amyotrophic lateral sclerosis.  ...  Amyotrophic lateral sclerosis is a late-onset and terminal neurodegenerative disease. The majority of cases are sporadic with unknown causes and only a small number of cases are genetically linked.  ...  S. for technical assistance, and Mrs. Judith Bentley for excellent administrative support during the preparation of this manuscript. This work was supported in part by the  ... 
doi:10.1016/j.mcn.2015.12.008 pmid:26704906 pmcid:PMC4761498 fatcat:6snbdrynmjbqtkrvc5nf4flhk4

BARHL1 Is Downregulated in Alzheimer's Disease and May Regulate Cognitive Functions through ESR1 and Multiple Pathways

Debmalya Barh, María García-Solano, Sandeep Tiwari, Antaripa Bhattacharya, Neha Jain, Daniel Torres-Moreno, Belén Ferri, Artur Silva, Vasco Azevedo, Preetam Ghosh, Kenneth Blum, Pablo Conesa-Zamora (+1 others)
2017 Genes  
However, much about the BARHL1 regulatory networks and their functions in neurodegenerative and neoplastic disorders is not yet known.  ...  In addition, we have provided a feasible new mechanism to explain the abnormal function of mossy fibers and cerebellar granule cells related to memory and cognitive decline in AD apart from the Tau and  ...  Rábano and the Regional Brain Bank from Murcia Region, Spain for selecting and providing the neurodegenerative brain specimens. Conflicts of Interest: The authors declare no conflict of interest.  ... 
doi:10.3390/genes8100245 pmid:28956815 pmcid:PMC5664095 fatcat:2okpgcxcwncn3pykaqk5chnmvi

Detecting Key Genes Regulated by miRNAs in Dysfunctional Crosstalk Pathway of Myasthenia Gravis

Yuze Cao, Jianjian Wang, Huixue Zhang, Qinghua Tian, Lixia Chen, Shangwei Ning, Peifang Liu, Xuesong Sun, Xiaoyu Lu, Chang Song, Shuai Zhang, Bo Xiao (+1 others)
2015 BioMed Research International  
Six dysregulated pathways were identified through differentially expressed miRNAs and mRNAs in MG, and significant crosstalk was detected between five of these.  ...  Recent studies have implicated the aberrant expression of microRNAs (miRNAs) in the pathogenesis of MG; however, the underlying mechanisms remain largely unknown.  ...  ZD201208), and the Specialized Research Fund for the Doctoral Program of Higher Education of China (Grant no. 20132307110008).  ... 
doi:10.1155/2015/724715 pmid:25705681 pmcid:PMC4331476 fatcat:dyfzxagvzbbmdcbld45h22okgm

Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3′UTR in Amyotrophic Lateral Sclerosis [article]

Chen Eitan, Elad Barkan, Tsviya Olender, Kristel R. van Eijk, Matthieu Moisse, Sali M. K. Farhan, Aviad Siany, Shu-Ting Hung, Nancy Yacovzada, Johnathan Cooper-Knock, Kevin P. Kenna, Rick A. A. van der Spek (+22 others)
2021 bioRxiv   pre-print
Region-based burden analysis of >23,000 variants in 6,139 amyotrophic lateral sclerosis (ALS) whole-genomes and 70,403 non-ALS controls identified Interleukin-18 Receptor Accessory Protein (IL18RAP) 3′  ...  This systematic analysis of the non-coding genome and specifically miRNA-networks will increase the power of genetic association studies and uncover mechanisms of neurodegeneration.  ...  We 31 discovered an enrichment of rare variants in the IL18RAP 3′UTR, implicating the IL-18 pathway in ALS. 32 Non-coding variants analysis in miRNA networks may impact research of human traits, increase  ... 
doi:10.1101/2021.06.03.446863 fatcat:avbgt4xovzfrja42ggx3vshcym

Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?

Christopher J Donnelly, Jonathan C Grima, Rita Sattler
2014 Neurodegenerative Disease Management  
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive motor neuron degeneration.  ...  The recent discovery of mutations in RNA modulating genes such as TARDBP/TDP-43, FUS/TLS or C9ORF72 changed our understanding of neurodegenerative mechanisms in ALS and introduced the role of dysfunctional  ...  Table 1 . 1 Summary of RNA dysregulation processes in amyotrophic lateral sclerosis. RNA process Gene mutations Function/amyotrophic lateral sclerosis affected pathway Ref.  ... 
doi:10.2217/nmt.14.36 pmid:25531686 pmcid:PMC4308292 fatcat:aogcwkj7incdzgqlm5sxowtpo4

Identification of hub molecules of FUS-ALS by Bayesian gene regulatory network analysis of iPSC model: iBRN [article]

Masahiro Nogami, Mitsuru Ishikawa, Atsushi Doi, Osamu Sano, Takafumi Sone, Tetsuya Akiyama, Masashi Aoki, Atsushi Nakanishi, Kazuhiro Ogi, Masato Yano, Hideyuki Okano
2021 bioRxiv   pre-print
Fused in sarcoma/translated in liposarcoma (FUS) is a causative gene of amyotrophic lateral sclerosis (ALS).  ...  In addition, we validated both introduction of miR-125b-5p and knocking down of TIMELESS caused DNA damage in the cell culture model.  ...  Top 20 "hub genes" in Bayesian gene regulatory network of ALSrelated pathways and RBP genes.  ... 
doi:10.1101/2021.01.07.425798 fatcat:biwkac33hbaahdhguv3mcitjge

Extracellular Vesicles in Serum and Central Nervous System Tissues Contain microRNA Signatures in Sporadic Amyotrophic Lateral Sclerosis

Ting-wen Lo, Claudia Figueroa-Romero, Junguk Hur, Crystal Pacut, Evan Stoll, Calvin Spring, Rose Lewis, Athul Nair, Stephen A. Goutman, Stacey A. Sakowski, Sunitha Nagrath, Eva L. Feldman
2021 Frontiers in Molecular Neuroscience  
Amyotrophic lateral sclerosis (ALS) is a terminalneurodegenerative disease.  ...  Predicted targets and pathways associated with the dysregulated miRNAs across the ALS tissues were associated with common biological pathways altered in neurodegeneration, including axon guidance and long-term  ...  ACKNOWLEDGMENTS We are grateful to the participants in this study and their families. We also thank the  ... 
doi:10.3389/fnmol.2021.739016 pmid:34776863 pmcid:PMC8586523 fatcat:mje2xo4v4zaifl354f2zktndna

Partitioning the genetic architecture of amyotrophic lateral sclerosis [article]

Iris J Broce, Chun C Fan, Nicholas T Olney, Catherine Lomen-Hoerth, Steve Finkbeiner, Nazem Atassi, Merit E Cudkowicz, Sabrina Paganoni, Jennifer S Yokoyama, Aimee Kao, William P Dillon, Christine M Glastonbury (+12 others)
2018 bioRxiv   pre-print
The genetic basis of sporadic amyotrophic lateral sclerosis (ALS) is not well understood.  ...  Altered gene expression of several sub-networks and hubs was over-represented in neuropathological samples from ALS patients and SOD1 G93A mice.  ...  ACKNOWLEDGEMENTS We salute the millions of people who battle with ALS every single day -your courage is our strength. This research is in part an EU Joint Programme -Neurodegenerative Disease Research  ... 
doi:10.1101/505693 fatcat:fczuophtazhhje6f7jzx6mbypm

Aberration of miRNAs Expression in Leukocytes from Sporadic Amyotrophic Lateral Sclerosis

YongPing Chen, QianQian Wei, XuePing Chen, ChunYu Li, Bei Cao, RuWei Ou, Shinji Hadano, Hui-Fang Shang
2016 Frontiers in Molecular Neuroscience  
Accumulating evidence indicates that miRNAs play an important role in the development of amyotrophic lateral sclerosis (ALS).  ...  By bioinformatics analysis, we obtained a large number of target genes and signaling information that are linked to neurodegeneration.  ...  The present study was supported by the funding of the National Science Fund of China (Grant No. 81371394 and No. 81511140101) and the Science and Technology Bureau Fund of Sichuan Province (2014FZ0072  ... 
doi:10.3389/fnmol.2016.00069 pmid:27582688 pmcid:PMC4987348 fatcat:ap7fgeu4dbdrhhvizrwje5pbom

Exosome microRNAs in Amyotrophic Lateral Sclerosis: A Pilot Study

Francesca Pregnolato, Lidia Cova, Alberto Doretti, Donatella Bardelli, Vincenzo Silani, Patrizia Bossolasco
2021 Biomolecules  
The pathogenesis of amyotrophic lateral sclerosis (ALS), a lethal neurodegenerative disease, remains undisclosed.  ...  Mutations in ALS related genes have been identified, albeit the majority of cases are unmutated.  ...  Exosome trafficking has been extensively characterized in tumor cells, but few data are available for the CNS, and especially in amyotrophic lateral sclerosis (ALS).  ... 
doi:10.3390/biom11081220 pmid:34439885 pmcid:PMC8394507 fatcat:fhv67y277bc2fd5j5px3v4cvby

Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders

Claudia Strafella, Valerio Caputo, Andrea Termine, Carlo Fabrizio, Paola Ruffo, Saverio Potenza, Andrea Cusumano, Federico Ricci, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella
2021 Frontiers in Neurology  
In addition, the bioinformatic analysis of the associated miRNA variants highlighted miR-196a, miR-6796, miR-6499, miR-6810, miR-499, and miR-7854 as potential candidates for counteracting AMD and neurodegenerative  ...  The analysis of epistatic effects revealed that ARMS2, IL6, APOE, and IL2RA could contribute to AMD and neurodegenerative processes by synergistic modulation of the expression of disease-relevant genes  ...  In particular, Polymirts 3.0 database allowed the sorting of 14 variants located within miRNA targeting genes associated with NDDs [namely, AD, PD, multiple sclerosis (MS), and amyotrophic lateral sclerosis  ... 
doi:10.3389/fneur.2021.626066 pmid:34135841 pmcid:PMC8200556 fatcat:fncljyhpjvdzvbpncdyt4czjty

Regulatory mechanisms underlying sepsis progression in patients with tumor necrosis factor-α genetic variations

YANGZHOU LIU, NING HAN, QINCHUAN LI, ZENGCHUN LI
2016 Experimental and Therapeutic Medicine  
Furthermore, Gene Ontology and pathway enrichment analyses were conducted for the DEGs using the Database for Annotation, Visualization and Integrated Discovery and the KEGG Orthology Based Annotation  ...  In the progression of sepsis, FBXW7 and CUL3 may participate in the ubiquitin-mediated proteolysis pathway, whereas COPS2 may regulate the phosphorylation and ubiquitination of the FUS protein.  ...  ZK2012A28), the Shanghai Special Project for Advanced and Suitable Technology (grant no. 2013SY039) and the National Clinical Key Specialty Construction Project.  ... 
doi:10.3892/etm.2016.3308 pmid:27347057 pmcid:PMC4906948 fatcat:3mdlhka4dvfijdporkvjs7kagm

Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis

José Manuel Matamala, Raul Arias-Carrasco, Carolina Sanchez, Markus Uhrig, Leslie Bargsted, Soledad Matus, Vinicius Maracaja-Coutinho, Sebastian Abarzua, Brigitte van Zundert, Renato Verdugo, Patricio Manque, Claudio Hetz
2018 Neurobiology of Aging  
The occurrence of mutations of TDP-43, FUS, and C9ORF72 in amyotrophic lateral sclerosis (ALS) suggests pathogenic alterations to RNA metabolism and specifically to microRNA (miRNA) biology.  ...  Bioinformatics analysis of the regulatory network governed by hsa-miR-142-3p identified TDP-43 and C9orf72 as possible targets, suggesting a connection with ALS pathogenesis.  ...  The authors would also like to thank the clinicians who referred patients to be recruited in this study,  ... 
doi:10.1016/j.neurobiolaging.2017.12.020 pmid:29458840 fatcat:wawcdlan5nfolgmdo63xdc7lh4

Insights on the Functional Impact of MicroRNAs Present in Autism-Associated Copy Number Variants

Varadarajan Vaishnavi, Mayakannan Manikandan, Basant K. Tiwary, Arasambattu Kannan Munirajan, Barbara Bardoni
2013 PLoS ONE  
These CNV-miRNAs can also impair the global processing and biogenesis of all miRNAs by targeting key molecules in the miRNA pathway.  ...  Further, the CNV-miRNAs formed a regulatory loop with transcription factors and their downstream target genes, and annotation of these target genes indicated their functional involvement in neurodevelopment  ...  Acknowledgments We gratefully acknowledge autism database (AutDB) for the vast and accessible information, www.whichgenes.org for the 'create a custom gene set' option that greatly helped us in all comparative  ... 
doi:10.1371/journal.pone.0056781 pmid:23451085 pmcid:PMC3581547 fatcat:xym264tgzjatxl6wdq6erdxrgq
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