4cccf425e1fd0e1c0f3a8e492c12c8dd 269687.pdf f2a868da97cb697c6b279b9c2323de52c51bf2b3 269687.pdf 571de489a620a53775e97954dbd0479e707022ba97bc7c9616bc0defbda8e3f5 269687.pdf Title: Contribution of “Omic” Studies to the Understanding of Cadasil. A Systematic Review Subject: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the epidermal growth factor (EGF)-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraines, psychiatric disorders, recurrent strokes, and dementia. Omic technologies allow the massive study of different molecules for understanding diseases in a non-biased manner or even for discovering targets and their possible treatments. We analyzed the progress in understanding CADASIL that has been made possible by omics sciences. For this purpose, we included studies that focused on CADASIL and used omics techniques, searching bibliographic resources, such as PubMed. We excluded studies with other phenotypes, such as migraine or leukodystrophies. A total of 18 articles were reviewed. Due to the high prevalence of NOTCH3 mutations considered pathogenic to date in genomic repositories, one can ask whether all of them produce CADASIL, different degrees of the disease, or whether they are just a risk factor for small vessel disease. Besides, proteomics and transcriptomics studies found that the molecules that are significantly altered in CADASIL are mainly related to cell adhesion, the cytoskeleton or extracellular matrix components, misfolding control, autophagia, angiogenesis, or the transforming growth factor (TGF) signaling pathway. The omics studies performed on CADASIL have been useful for understanding the biological mechanisms and could be key factors for finding potential drug targets. Keywords: CADASIL; genomic; transcriptomic; proteomic Author: Elena Muiño, Israel Fernández-Cadenas and Adrià Arboix Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Thu Jul 8 13:52:10 2021 CEST ModDate: Fri Jul 9 03:05:18 2021 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 18 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 2667374 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- AZUTVD+VnURWPalladioL-Bold Type 1 Custom yes yes no 10 0 QDCWHF+EURM10 Type 1 Builtin yes yes no 15 0 KASDRQ+URWPalladioL-Ital Type 1 Custom yes yes no 19 0 ENUNVT+URWPalladioL-Bold Type 1 Custom yes yes no 24 0 GJCZKD+URWPalladioL-Roma Type 1 Custom yes yes no 28 0 IRWHZX+TimesNewRomanPSMT Type 1C WinAnsi yes yes no 36 0 CKUPDE+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 39 0 MCBCCI+SourceSansRoman-Regular Type 1C Custom yes yes no 61 0 MCBCCM+SourceSansRoman.613wght Type 1C Custom yes yes no 65 0 MCBCCO+SourceSansRoman-Bold Type 1C Custom yes yes no 69 0 BBEKON+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 91 0 BBEKOP+PalatinoLinotype TrueType WinAnsi yes yes no 94 0 BBELAB+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 97 0 BBEKON+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 116 0 BBEKOP+PalatinoLinotype TrueType WinAnsi yes yes no 119 0 BBELAB+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 122 0 BBEKON+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 139 0 BBEKOP+PalatinoLinotype TrueType WinAnsi yes yes no 142 0 BBELAB+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 145 0 ORWJHQ+VnURWPalladioL Type 1 Custom yes yes no 154 0 IYELBM+CMSY10 Type 1 Builtin yes yes no 161 0 UCHDUB+EURB10 Type 1 Builtin yes yes no 165 0 BVDCRA+URWPalladioL-BoldItal Type 1 Custom yes yes no 178 0 BBEKON+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 199 0 BBEKOO+PalatinoLinotype CID TrueType Identity-H yes yes yes 202 0 BBEKOP+PalatinoLinotype TrueType WinAnsi yes yes no 208 0 BBELAB+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 211 0 BBEKON+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 226 0 BBEKOP+PalatinoLinotype TrueType WinAnsi yes yes no 229 0 BBELAB+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 232 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2023-05-27 03:15:36 CEST RepresentationInformation: 269687.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2023-03-31 12:04:42 CEST Size: 2667374 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 528 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@44c8afef Item: Title: Materials and Methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7b69c6ba Item: Title: Genome-Wide Sequencing and Progress in Epidemiology Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@46daef40 Item: Title: Omic Studies and Progress in the Etiopathogenesis of CADASIL Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@12f41634 Children: Item: Title: Proteomic Studies and Progress in the Etiopathogenesis of CADASIL Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@13c27452 Item: Title: Transcriptomic Studies and Progress in the Etiopathogenesis of CADASIL Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@262b2c86 Item: Title: Microbiome Studies and Progress in the Etiopathogenesis of CADASIL Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@371a67ec Item: Title: Genome-Wide Studies and Progress in Prognostic Assessment Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@5ed828d Item: Title: Therapeutic Possibilities Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@50d0686 Item: Title: Limitations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7a3d45bd Item: Title: Discussion and Conclusions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1e7c7811 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@77ec78b9 Info: Title: Contribution of “Omic” Studies to the Understanding of Cadasil. A Systematic Review Author: Elena Muiño, Israel Fernández-Cadenas and Adrià Arboix Subject: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the epidermal growth factor (EGF)-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraines, psychiatric disorders, recurrent strokes, and dementia. Omic technologies allow the massive study of different molecules for understanding diseases in a non-biased manner or even for discovering targets and their possible treatments. We analyzed the progress in understanding CADASIL that has been made possible by omics sciences. For this purpose, we included studies that focused on CADASIL and used omics techniques, searching bibliographic resources, such as PubMed. We excluded studies with other phenotypes, such as migraine or leukodystrophies. A total of 18 articles were reviewed. Due to the high prevalence of NOTCH3 mutations considered pathogenic to date in genomic repositories, one can ask whether all of them produce CADASIL, different degrees of the disease, or whether they are just a risk factor for small vessel disease. Besides, proteomics and transcriptomics studies found that the molecules that are significantly altered in CADASIL are mainly related to cell adhesion, the cytoskeleton or extracellular matrix components, misfolding control, autophagia, angiogenesis, or the transforming growth factor (TGF) signaling pathway. The omics studies performed on CADASIL have been useful for understanding the biological mechanisms and could be key factors for finding potential drug targets. 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