FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4317603978> ?p ?o ?g. }

• W4317603978 abstract "Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene ( MECP2 ). MeCP2 is a multifunctional protein involved in many cellular processes, but the mechanisms by which its dysfunction causes disease are not fully understood. The duplication of MECP2 is the cause of a different disorder, MECP2 duplication syndrome (MDS), indicating that its dosage must be tightly regulated for proper cellular function. Moreover, there are patients with a remarkable phenotypic overlap with RTT and mutations in genes other than MECP2 (RTT-like), suggesting they could be involved in similar cellular functions. The purpose of this study was to characterize the molecular alterations in patients with RTT in order to identify potential biomarkers or therapeutic targets for this disorder. Methods We used a combination of transcriptomics (RNAseq) and proteomics (TMT-mass spectrometry) to characterize the expression patterns in fibroblast cell lines from 22 patients with RTT and detected mutation in MECP2 , 15 patients with MDS, 12 patients with RTT-like phenotypes and 13 healthy controls. Transcriptomics and proteomics data were used to identify differentially expressed genes both at RNA and protein levels, which were further inspected via enrichment and upstream regulator analyses and compared to find shared features in patients with RTT. Results We identified molecular alterations in cellular functions and pathways that may contribute to the disease phenotype in patients with RTT,such as deregulated cytoskeletal components, vesicular transport elements, ribosomal subunits and mRNA processsing machinery. We also compared RTT expression profiles with those of MDS seeking changes in opposite directions that could lead to the identification of MeCP2 direct targets. Some of the deregulated transcripts and proteins were consistently affected in patients with RTT-like phenotypes, revealing potentially relevant molecular processes in patients with overlapping traits and different genetic aetiology. Conclusions The integration of data in a multi-omic analysis has helped to interpret the molecular consequences of MECP2 dysfunction, contributing to the characterisation of the molecular landscape in patients with RTT. The comparison with MDS provides knowledge of MeCP2 direct targets, whilst the correlation with RTT-like phenotypes highlights processes potentially contributing to the pathomechanism leading these disorders." @default.
• W4317603978 created "2023-01-21" @default.
• W4317603978 creator A5013557997 @default.
• W4317603978 creator A5018732183 @default.
• W4317603978 creator A5054486997 @default.
• W4317603978 creator A5076635452 @default.
• W4317603978 creator A5084804029 @default.
• W4317603978 creator A5090325742 @default.
• W4317603978 date "2023-01-20" @default.
• W4317603978 modified "2023-10-06" @default.
• W4317603978 title "Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach" @default.
• W4317603978 cites W130207961 @default.
• W4317603978 cites W1589880975 @default.
• W4317603978 cites W1801364512 @default.
• W4317603978 cites W1943055753 @default.
• W4317603978 cites W1964288971 @default.
• W4317603978 cites W1964917360 @default.
• W4317603978 cites W1969889060 @default.
• W4317603978 cites W1970151100 @default.
• W4317603978 cites W1972628959 @default.
• W4317603978 cites W1978127185 @default.
• W4317603978 cites W1978913493 @default.
• W4317603978 cites W1980378211 @default.
• W4317603978 cites W1987829135 @default.
• W4317603978 cites W1993937384 @default.
• W4317603978 cites W1998046189 @default.
• W4317603978 cites W2005881679 @default.
• W4317603978 cites W2013405241 @default.
• W4317603978 cites W2018209199 @default.
• W4317603978 cites W2036883550 @default.
• W4317603978 cites W2039276157 @default.
• W4317603978 cites W2045042214 @default.
• W4317603978 cites W2053235668 @default.
• W4317603978 cites W2059119176 @default.
• W4317603978 cites W2066619092 @default.
• W4317603978 cites W2072358341 @default.
• W4317603978 cites W2072506631 @default.
• W4317603978 cites W2076542032 @default.
• W4317603978 cites W2076825430 @default.
• W4317603978 cites W2082787641 @default.
• W4317603978 cites W2083435391 @default.
• W4317603978 cites W2084418293 @default.
• W4317603978 cites W2086801876 @default.
• W4317603978 cites W2095404797 @default.
• W4317603978 cites W2102682111 @default.
• W4317603978 cites W2103017472 @default.
• W4317603978 cites W2120602839 @default.
• W4317603978 cites W2125677514 @default.
• W4317603978 cites W2132785093 @default.
• W4317603978 cites W2133316170 @default.
• W4317603978 cites W2134526812 @default.
• W4317603978 cites W2135726526 @default.
• W4317603978 cites W2146512944 @default.
• W4317603978 cites W2154057943 @default.
• W4317603978 cites W2154083208 @default.
• W4317603978 cites W2157536563 @default.
• W4317603978 cites W2160039765 @default.
• W4317603978 cites W2162098634 @default.
• W4317603978 cites W2166972019 @default.
• W4317603978 cites W2167524710 @default.
• W4317603978 cites W2172557341 @default.
• W4317603978 cites W2179438025 @default.
• W4317603978 cites W2199498010 @default.
• W4317603978 cites W2344384575 @default.
• W4317603978 cites W2592884992 @default.
• W4317603978 cites W2737695031 @default.
• W4317603978 cites W2762222213 @default.
• W4317603978 cites W2790423617 @default.
• W4317603978 cites W2808361199 @default.
• W4317603978 cites W2841079612 @default.
• W4317603978 cites W2889397457 @default.
• W4317603978 cites W2910150672 @default.
• W4317603978 cites W2914026446 @default.
• W4317603978 cites W2937573806 @default.
• W4317603978 cites W2945084333 @default.
• W4317603978 cites W2947622232 @default.
• W4317603978 cites W2949692005 @default.
• W4317603978 cites W2962691642 @default.
• W4317603978 cites W3004640795 @default.
• W4317603978 cites W3006529133 @default.
• W4317603978 cites W3008721488 @default.
• W4317603978 cites W3015786459 @default.
• W4317603978 cites W3027009744 @default.
• W4317603978 cites W3030031815 @default.
• W4317603978 cites W3036602291 @default.
• W4317603978 cites W3088571915 @default.
• W4317603978 cites W3092476739 @default.
• W4317603978 cites W3137110137 @default.
• W4317603978 cites W3169046443 @default.
• W4317603978 cites W3205680411 @default.
• W4317603978 cites W3217745201 @default.
• W4317603978 cites W4221026818 @default.
• W4317603978 cites W4280517029 @default.
• W4317603978 cites W4281654076 @default.
• W4317603978 cites W828263635 @default.
• W4317603978 doi "https://doi.org/10.21203/rs.3.rs-2492515/v1" @default.
• W4317603978 hasPublicationYear "2023" @default.
• W4317603978 type Work @default.
• W4317603978 citedByCount "0" @default.
• W4317603978 crossrefType "posted-content" @default.

• next