Search Results - "Mateiu, Ligia"

Mitochondrial GpC and CpG DNA Hypermethylation Cause Metabolic Stress-Induced Mitophagy and Cholestophagy by Theys, Claudia, Ibrahim, Joe, Mateiu, Ligia, Mposhi, Archibold, García-Pupo, Laura, De Pooter, Tim, De Rijk, Peter, Strazisar, Mojca, İnce, İkbal Agah, Vintea, Iuliana, Rots, Marianne G, Vanden Berghe, Wim

“…Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by a constant accumulation of lipids in the liver. This hepatic lipotoxicity…”
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Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy by Bervoets, Sven, Wei, Na, Erfurth, Maria-Luise, Yusein-Myashkova, Shazie, Ermanoska, Biljana, Mateiu, Ligia, Asselbergh, Bob, Blocquel, David, Kakad, Priyanka, Penserga, Tyrone, Thomas, Florian P, Guergueltcheva, Velina, Tournev, Ivailo, Godenschwege, Tanja, Jordanova, Albena, Yang, Xiang-Lei

“…Charcot-Marie-Tooth disease (CMT) is a length-dependent peripheral neuropathy. The aminoacyl-tRNA synthetases constitute the largest protein family implicated…”
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Frequency and pattern of heteroplasmy in the complete human mitochondrial genome by Ramos, Amanda, Santos, Cristina, Mateiu, Ligia, Gonzalez, Maria del Mar, Alvarez, Luis, Azevedo, Luisa, Amorim, António, Aluja, Maria Pilar

“…Determining the levels of human mitochondrial heteroplasmy is of utmost importance in several fields. In spite of this, there are currently few published works…”
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Correction to: ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van Der Aa syndrome autopsy case by D'Incal, Claudio, Dijck, Anke Van, Ibrahim, Joe, Man, Kevin De, Bastini, Lina, Konings, Anthony, Elinck, Ellen, Theys, Claudia, Gozes, Illana, Marusic, Zlatko, Anicic, Mirna, Vukovic, Jurica, Aa, Nathalie Van der, Mateiu, Ligia, Vanden Berghe, Wim, Kooy, R Frank

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ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case by D'Incal, Claudio, Van Dijck, Anke, Ibrahim, Joe, De Man, Kevin, Bastini, Lina, Konings, Anthony, Elinck, Ellen, Gozes, Lllana, Marusic, Zlatko, Anicic, Mirna, Vukovic, Jurica, Van der Aa, Nathalie, Mateiu, Ligia, Vanden Berghe, Wim, Kooy, R Frank

“…Helsmoortel-Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent…”
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Loss of PPARα function promotes epigenetic dysregulation of lipid homeostasis driving ferroptosis and pyroptosis lipotoxicity in metabolic dysfunction associated Steatotic liver disease (MASLD) by Theys, Claudia, Vanderhaeghen, Tineke, Van Dijck, Evelien, Peleman, Cedric, Scheepers, Anne, Ibrahim, Joe, Mateiu, Ligia, Timmermans, Steven, Vanden Berghe, Tom, Francque, Sven M, Van Hul, Wim, Libert, Claude, Vanden Berghe, Wim

“…Metabolic Dysfunction Associated Steatotic Liver Disease (MASLD) is a growing epidemic with an estimated prevalence of 20%-30% in Europe and the most common…”
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Bayesian Inference of Errors in Ancient DNA Caused by Postmortem Degradation by Mateiu, Ligia M., Rannala, Bruce H.

“…Methods for extracting and amplifying sequences using ancient DNA (aDNA) can be prone to errors caused by postmortem modifications of the DNA strand. A new…”
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The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study by Thys, Liene, Beysen, Diane, Ceulemans, Berten, Kenis, Sandra, Dielman, Charlotte, Roelens, Filip, Reyniers, Edwin, Mateiu, Ligia, Janssens, Katrien, Meuwissen, Marije

“…Cerebral palsy (CP) is the most frequent cause of motor impairment in children. Although perinatal asphyxia was long considered to be the leading cause of CP,…”
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Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction by Van Lent, Jonas, Verstraelen, Peter, Asselbergh, Bob, Adriaenssens, Elias, Mateiu, Ligia, Verbist, Christophe, De Winter, Vicky, Eggermont, Kristel, Van Den Bosch, Ludo, De Vos, Winnok H, Timmerman, Vincent

“…Axonal Charcot-Marie-Tooth neuropathies (CMT type 2) are caused by inherited mutations in various genes functioning in different pathways. The types of genes…”
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An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling by Hendrickx, Gretl, Boudin, Eveline, Mateiu, Ligia, Yorgan, Timur A., Steenackers, Ellen, Kneissel, Michaela, Kramer, Ina, Mortier, Geert, Schinke, Thorsten, Van Hul, Wim

“…Pathogenic variants disrupting the binding between sclerostin (encoded by SOST ) and its receptor LRP4 have previously been described to cause sclerosteosis, a…”
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Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells by Zamani Esteki, Masoud, Dimitriadou, Eftychia, Mateiu, Ligia, Melotte, Cindy, Van der Aa, Niels, Kumar, Parveen, Das, Rakhi, Theunis, Koen, Cheng, Jiqiu, Legius, Eric, Moreau, Yves, Debrock, Sophie, D’Hooghe, Thomas, Verdyck, Pieter, De Rycke, Martine, Sermon, Karen, Vermeesch, Joris R., Voet, Thierry

“…Methods for haplotyping and DNA copy-number typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before…”
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Identification of a DLG3 stop mutation in the MRX20 family by Huyghebaert, Jolien, Mateiu, Ligia, Elinck, Ellen, Van Rossem, Kirsten Esther, Christiaenssen, Bregje, D'Incal, Claudio Peter, McCormack, Michael K, Lazzarini, Alice, Vandeweyer, Geert, Kooy, R Frank

“…Here, we identified the causal mutation in the MRX20 family, one of the larger X-linked pedigrees that have been described in which no gene had been identified…”
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Transcriptomic and proteomic profiling of bi-partite and tri-partite murine iPSC-derived neurospheroids under steady-state and inflammatory condition by Di Stefano, Julia, Garcia-Pupo, Laura, Di Marco, Federica, Motaln, Helena, Govaerts, Jonas, Van Breedam, Elise, Mateiu, Ligia Monica, Van Calster, Siebe, Ricciardi, Leonardo, Quarta, Alessandra, Verstraelen, Peter, De Vos, Winnok H., Rogelj, Boris, Cicalini, Ilaria, De Laurenzi, Vincenzo, Del Boccio, Piero, FitzGerald, Una, Vanden Berghe, Wim, Verhoye, Marleen, Pieragostino, Damiana, Ponsaerts, Peter

“…•Generation of bi- and tri-partite murine iPSC-derived neurospheroids.•Induction of inflammatory stress in bi- and tri-partite neurospheroids.•Single and…”
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Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains by Van der Aa, Niels, Cheng, Jiqiu, Mateiu, Ligia, Zamani Esteki, Masoud, Kumar, Parveen, Dimitriadou, Eftychia, Vanneste, Evelyne, Moreau, Yves, Vermeesch, Joris Robert, Voet, Thierry

“…Single-cell genomics is revolutionizing basic genome research and clinical genetic diagnosis. However, none of the current research or clinical methods for…”
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Single-cell paired-end genome sequencing reveals structural variation per cell cycle by Voet, Thierry, Kumar, Parveen, Van Loo, Peter, Cooke, Susanna L, Marshall, John, Lin, Meng-Lay, Zamani Esteki, Masoud, Van der Aa, Niels, Mateiu, Ligia, McBride, David J, Bignell, Graham R, McLaren, Stuart, Teague, Jon, Butler, Adam, Raine, Keiran, Stebbings, Lucy A, Quail, Michael A, D'Hooghe, Thomas, Moreau, Yves, Futreal, P Andrew, Stratton, Michael R, Vermeesch, Joris R, Campbell, Peter J

“…The nature and pace of genome mutation is largely unknown. Because standard methods sequence DNA from populations of cells, the genetic composition of…”
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Cardiac endothelial cell transcriptome in neonatal, adult, and remodeling hearts by Vermeulen, Zarha, Mateiu, Ligia, Dugaucquier, Lindsey, De Keulenaer, Gilles W, Segers, Vincent F M

“…Cardiac microvascular endothelial cells (CMVECs) are the most numerous cells in the myocardium and orchestrate cardiogenesis during development, regulate adult…”
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome by D'Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J, Alders, Mariëlle, Dingemans, Alexander J M, Mateiu, Ligia, de Vries, Bert B A, Vanden Berghe, Wim, Kooy, R Frank

“…Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the…”
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Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations by Pottier, Cyril, Mateiu, Ligia, Baker, Matthew C, DeJesus-Hernandez, Mariely, Teixeira Vicente, Cristina, Finch, NiCole A, Tian, Shulan, van Blitterswijk, Marka, Murray, Melissa E, Ren, Yingxue, Petrucelli, Leonard, Oskarsson, Björn, Biernacka, Joanna M, Graff-Radford, Neill R, Boeve, Bradley F, Petersen, Ronald C, Josephs, Keith A, Asmann, Yan W, Dickson, Dennis W, Rademakers, Rosa

“…Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a complex heterogeneous neurodegenerative disorder for which mechanisms are poorly…”
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Transcript analysis using long‐read sequencing reveals the complex splicing profile of AD‐associated gene ABCA7: Genetics: Genetics and omics of AD I by Duchateau, Lena, Küçükali, Fahri, Van Dongen, Jasper, Bossaerts, Liene, Hens, Elisabeth, De Roeck, Arne, Mateiu, Ligia, Van Broeckhoven, Christine, Sleegers, Kristel

“…Abstract Background The ATP‐Binding Cassette Subfamily A member 7 ( ABCA7 ) gene is one of most alluring risk genes for Alzheimer’s disease (AD). Of special…”
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Transcript analysis using long‐read sequencing reveals the complex splicing profile of AD‐associated gene ABCA7 by Duchateau, Lena, Küçükali, Fahri, Van Dongen, Jasper, Bossaerts, Liene, Hens, Elisabeth, De Roeck, Arne, Mateiu, Ligia, Van Broeckhoven, Christine, Sleegers, Kristel

“…Background The ATP‐Binding Cassette Subfamily A member 7 (ABCA7) gene is one of most alluring risk genes for Alzheimer’s disease (AD). Of special interest are…”
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