Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression

Autor: Benjamin J. Whittle, Osagie G. Izuogu, Hannah Lowes, Dasha Deen, Angela Pyle, Jon Coxhead, Rachael A. Lawson, Alison J. Yarnall, Michael S. Jackson, Mauro Santibanez-Koref, Gavin Hudson

Publikováno v: npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-14 (2024)

Abstract Neurodegeneration in Parkinson’s disease (PD) precedes diagnosis by years. Early neurodegeneration may be reflected in RNA levels and measurable as a biomarker. Here, we present the largest quantification of whole blood linear and circular

Externí odkaz: https://doaj.org/article/755bcb8608f34a71b0ad793489ea3d40

Circulating cell-free mitochondrial DNA levels in Parkinson’s disease are influenced by treatment

Autor: Hannah Lowes, Angela Pyle, Mauro Santibanez-Koref, Gavin Hudson

Publikováno v: Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-8 (2020)

Abstract Several studies have linked circulating cell-free mitochondrial DNA (ccf-mtDNA) to human disease. In particular, reduced ccf-mtDNA levels in the cerebrospinal fluid (CSF) of both Alzheimer’s and Parkinson’s disease (PD) patients have rai

Externí odkaz: https://doaj.org/article/47e90a277f284219945fbc748d27d99f

Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia

Autor: Richard, Gallon, Rachel, Phelps, Leigh, Betts, Christine, Hayes, Dino, Masic, Julie A E, Irving, Ciaron, McAnulty, Vaskar, Saha, Ajay, Vora, Katharina, Wimmer, Jayashree, Motwani, Christine, Macartney, John, Burn, Michael S, Jackson, Anthony V, Moorman, Mauro, Santibanez-Koref

Publikováno v: Leukemia & Lymphoma. 64:217-220

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbf34ac043a5225a51f9fe2b0539f4d
https://doi.org/10.1080/10428194.2022.2131412

A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior

Autor: Ingrid Ehrmann, Matthew R. Gazzara, Vittoria Pagliarini, Caroline Dalgliesh, Mahsa Kheirollahi-Chadegani, Yaobo Xu, Eleonora Cesari, Marina Danilenko, Marie Maclennan, Kate Lowdon, Tanja Vogel, Piia Keskivali-Bond, Sara Wells, Heather Cater, Philippe Fort, Mauro Santibanez-Koref, Silvia Middei, Claudio Sette, Gavin J. Clowry, Yoseph Barash, Mark O. Cunningham, David J. Elliott

Publikováno v: Cell Reports, Vol 17, Iss 12, Pp 3269-3280 (2016)

The brain is made up of trillions of synaptic connections that together form neural networks needed for normal brain function and behavior. SLM2 is a member of a conserved family of RNA binding proteins, including Sam68 and SLM1, that control splicin

Externí odkaz: https://doaj.org/article/f0ae21a2845440f5b5bb4825a77a395e

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Autor: Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Chrystelle Colas, Martine Muleris, Neil A.J. Ryan, D. Gareth Evans, Hannah Grice, Emily Jessop, Annabel Kunzemann-Martinez, Lilla Marshall, Esther Schamschula, Klaus Oberhuber, Amedeo A. Azizi, Hagit Baris Feldman, Andreas Beilken, Nina Brauer, Triantafyllia Brozou, Karin Dahan, Ugur Demirsoy, Benoît Florkin, William Foulkes, Danuta Januszkiewicz-Lewandowska, Kristi J. Jones, Christian P. Kratz, Stephan Lobitz, Julia Meade, Michaela Nathrath, Hans-Jürgen Pander, Claudia Perne, Iman Ragab, Tim Ripperger, Thorsten Rosenbaum, Daniel Rueda, Tomasz Sarosiek, Astrid Sehested, Isabel Spier, Manon Suerink, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M. Borthwick, Katharina Wimmer, John Burn, Michael S. Jackson, Mauro Santibanez-Koref

Publikováno v: Gallon, R, Phelps, R, Hayes, C, Brugieres, L, Guerrini-Rousseau, L, Colas, C, Muleris, M, Ryan, N A J, Evans, D G, Grice, H, Jessop, E, Kunzemann-Martinez, A, Marshall, L, Schamschula, E, Oberhuber, K, Azizi, A A, Baris Feldman, H, Beilken, A, Brauer, N, Brozou, T, Dahan, K, Demirsoy, U, Florkin, B, Foulkes, W, Januszkiewicz-Lewandowska, D, Jones, K J, Kratz, C P, Lobitz, S, Meade, J, Nathrath, M, Pander, H-J, Perne, C, Ragab, I, Ripperger, T, Rosenbaum, T, Rueda, D, Sarosiek, T, Sehested, A, Spier, I, Suerink, M, Zimmermann, S-Y, Zschocke, J, Borthwick, G M, Wimmer, K, Burn, J, Jackson, M S & Santibanez-Koref, M 2023, ' Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency ', Gastroenterology, vol. 164, no. 4, pp. 579-592.e8 . https://doi.org/10.1053/j.gastro.2022.12.017

BACKGROUND & AIMS: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76ee
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf