Article
Chemistry, Multidisciplinary
Shiuan-Haur Su, Yujing Song, Michael W. Newstead, Tao Cai, MengXi Wu, Andrew Stephens, Benjamin H. Singer, Katsuo Kurabayashi
Summary: The digital Phenoplate (dPP) is an integrated platform that allows ultra-sensitive measurement of cellular cytokine secretory profiles, making it suitable for high precision and high throughput characterization of cellular phenotypes.
Article
Neurosciences
Nazhakaiti Palihati, Yuanhong Tang, Yajuan Yin, Ding Yu, Gang Liu, Zhenzhen Quan, Junjun Ni, Yan Yan, Hong Qing
Summary: In recent years, the glycosylated protein Clusterin has attracted extensive research attention, especially in Alzheimer's disease. It is closely associated with the occurrence and progression of AD and may affect the pathogenesis through mechanisms such as regulating inflammation, controlling cell apoptosis, and clearing pathological proteins. Further research on the relationship between Clusterin and AD is essential for a deeper understanding of the etiology and developing early diagnostic and therapeutic strategies.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Yinling Chen, Jianxin Jia, Qing Zhao, Yuxian Zhang, Bingkun Huang, Likun Wang, Juanjuan Tian, Caoxin Huang, Mingyu Li, Xuejun Li
Summary: In this study, a novel HNF1a variant (HNF1a-Q125ter) was found to cause beta-cell dysfunction through activating the PERK/eIF2a/ATF4 signaling pathway.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Panagiotis M. Spatharas, Georgia I. Nasi, Paraskevi L. Tsiolaki, Marilena K. Theodoropoulou, Nikos C. Papandreou, Andreas Hoenger, Ioannis P. Trougakos, Vassiliki A. Iconomidou
Summary: Clusterin is identified as a glycoprotein involved in amyloid formation and has aggregation-prone regions that can form amyloid-like fibrils while also inhibiting amyloid-beta fibril formation. These findings suggest a potential role of clusterin in the molecular mechanism of inhibiting amyloid formation and indicate a possible involvement of molecular chaperones with amyloidogenic properties in regulating amyloid formation.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Multidisciplinary Sciences
Quanli Wang, Ryan S. Dhindsa, Keren Carss, Andrew R. Harper, Abhishek Nag, Ioanna Tachmazidou, Dimitrios Vitsios, Sri V. V. Deevi, Alex Mackay, Daniel Muthas, Michael Huhn, Susan Monkley, Henric Olsson, Sebastian Wasilewski, Katherine R. Smith, Ruth March, Adam Platt, Carolina Haefliger, Slave Petrovski
Summary: The study reveals a significant contribution of rare variants to common disease, with a large number of gene-phenotype associations detected through gene-based collapsing analysis that cannot be identified in single-variant association tests. Rare variants are also significantly enriched for loss-of-function-mediated traits and approved drug targets.
Article
Multidisciplinary Sciences
Michael D. Kessler, Amy Damask, Sean O'Keeffe, Nilanjana Banerjee, Dadong Li, Kyoko Watanabe, Anthony Marketta, Michael Van Meter, Stefan Semrau, Julie Horowitz, Jing Tang, Jack A. Kosmicki, Veera M. Rajagopal, Yuxin Zou, Yariv Houvras, Arkopravo Ghosh, Christopher Gillies, Joelle Mbatchou, Ryan R. White, Niek Verweij, Jonas Bovijn, Neelroop N. Parikshak, Michelle G. LeBlanc, Marcus Jones, David J. Glass, Luca A. Lotta, Michael N. Cantor, Gurinder S. Atwal, Adam E. Locke, Manuel A. R. Ferreira, Raquel Deering, Charles Paulding, Alan R. Shuldiner, Gavin Thurston, Adolfo A. Ferrando, Will Salerno, Jeffrey G. Reid, John D. Overton, Jonathan Marchini, Hyun M. Kang, Aris Baras, Goncalo R. Abecasis, Eric Jorgenson
Summary: Clonal haematopoiesis, associated with ageing and adverse health outcomes, involves the expansion of certain blood cell lineages. This study identified novel germline genetic variations influencing predisposition to clonal haematopoiesis using exome sequence data from over 600,000 individuals. The study also found associations between clonal haematopoiesis and severe COVID-19 outcomes, cardiovascular disease, and malignancy.
Article
Clinical Neurology
Lian Tang, Zhi-Bo Wang, Ling-Zhi Ma, Xi-Peng Cao, Lan Tan, Meng-Shan Tan
Summary: This study investigated the levels of cerebrospinal fluid (CSF) clusterin in different pathological processes of Alzheimer's disease (AD). The results showed that the decreased levels of CSF clusterin in the early stage were related to abnormal A beta pathology, while the increased levels were associated with tau pathology and neurodegeneration.
Article
Multidisciplinary Sciences
Dan Zhou, Dongmei Yu, Jeremiah M. Scharf, Carol A. Mathews, Lauren McGrath, Edwin Cook, S. Hong Lee, Lea K. Davis, Eric R. Gamazon
Summary: Research has revealed the significant roles of common small-effect polygenic burden and large-effect variants in the genetic basis of complex traits. Studies have shown that it is possible to quantify the power to detect a lower PB in LEV carriers compared to non-carriers through simulations.
NATURE COMMUNICATIONS
(2021)
Review
Biochemistry & Molecular Biology
Alexander A. A. Mironov, Galina V. V. Beznoussenko
Summary: Transport models are crucial for understanding the transport of proteins and their interactions within a cell. Different pathways exist for the transport of secretory proteins, with the regulated secretion pathway playing a significant role in specialized cells. This exocytosis process is triggered by external stimuli and can provide insights into the intracellular transport of mucins in goblet cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Guhan Ram Venkataraman, Christopher DeBoever, Yosuke Tanigawa, Matthew Aguirre, Alexander G. Ioannidis, Hakhamanesh Mostafavi, Chris C. A. Spencer, Timothy Poterba, Carlos D. Bustamante, Mark J. Daly, Matti Pirinen, Manuel A. Rivas
Summary: The study introduces a Bayesian model comparison approach called MRP for rare-variant association studies, which can effectively detect associations between genes and multiple phenotypes, providing new opportunities for discovery. When applied to large-scale population sequencing data, the MRP method shows improved signal recovery capabilities and significant effectiveness in meta-analyses of exome data.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Clinical Neurology
Fahri Kucukali, Alexander Neumann, Jasper Van Dongen, Tim De Pooter, Geert Joris, Peter De Rijk, Olena Ohlei, Valerija Dobricic, Isabelle Bos, Stephanie J. B. Vos, Sebastiaan Engelborghs, Ellen De Roeck, Rik Vandenberghe, Silvy Gabel, Karen Meersmans, Magda Tsolaki, Frans Verhey, Pablo Martinez-Lage, Mikel Tainta, Giovanni Frisoni, Oliver Blin, Jill C. Richardson, Regis Bordet, Philip Scheltens, Julius Popp, Gwendoline Peyratout, Peter Johannsen, Lutz Frolich, Yvonne Freund-Levi, Johannes Streffer, Simon Lovestone, Cristina Legido-Quigley, Mara Ten Kate, Frederik Barkhof, Henrik Zetterberg, Lars Bertram, Mojca Strazisar, Pieter Jelle Visser, Christine Van Broeckhoven, Kristel Sleegers
Summary: In this study, the association between rare genetic variation and AD-related biomarker traits was investigated. Several novel gene-trait associations were identified, shedding light on the role of rare coding variation in the pathophysiological processes of AD.
ALZHEIMERS & DEMENTIA
(2022)
Article
Biochemistry & Molecular Biology
Lingwan Xu, Shijun Tian, Xianglei Peng, Ying Hua, Wenxuan Yang, Longwei Chen, Shilei Liu, Wenzheng Wu, Jiang Zhao, Jinsheng He, Liqing Wu, Jingfa Yang, Yanpeng Zheng
Summary: This research demonstrated the direct interaction between sCLU-His and A beta(42) in vitro, showing the inhibitory effect of sCLU-His on the aggregation of A beta(42). These findings provide new insights into the pathogenesis of Alzheimer's disease.
JOURNAL OF NEUROCHEMISTRY
(2021)
Review
Biochemistry & Molecular Biology
Kristen E. Rohli, Cierra K. Boyer, Sandra E. Blom, Samuel B. Stephens
Summary: Pancreatic islet beta-cells have the ability to adapt their secretory program to match nutrient availability and peripheral insulin signaling cues. However, as Type 2 diabetes progresses, these adaptive mechanisms fail, leading to a decline in beta-cell function and impaired insulin secretion.
Article
Neurosciences
Liene Bossaerts, Elisabeth Hendrickx Van de Craen, Rita Cacace, Bob Asselbergh, Christine Van Broeckhoven
Summary: This study investigated the contribution and pathogenicity of rare missense, indel and splice variants in the ABCA7 gene in Belgian Alzheimer's disease (AD) patient and control cohorts. The results suggest that rare ABCA7 missense mutations can contribute to AD by inducing protein mislocalization, resulting in a lack of functional protein at the plasma membrane. Additionally, some of the observed missense mutations affect amino acid residues that are conserved in ABCA1 and ABCA4 and correspond to disease-causing mutations in Tangier and Stargardt disease.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Yulong Gong, Bingyuan Yang, Dingdong Zhang, Yue Zhang, Zihan Tang, Liu Yang, Katie C. Coate, Linlin Yin, Brittney A. Covington, Ravi S. Patel, Walter A. Siv, Katelyn Sellick, Matthew Shou, Wenhan Chang, E. Danielle Dean, Alvin C. Powers, Wenbiao Chen
Summary: Insufficient glucagon signalling leads to hyperaminoacidemia and stimulates the proliferation of glucagon-producing alpha cells. The study reveals that the amino acid sensitive calcium sensing receptor (CaSR) is necessary for alpha cell proliferation through Gq signalling during hyperaminoacidemia.
NATURE COMMUNICATIONS
(2023)
Article
Neurosciences
Mathieu Vandenbulcke, Laura Van de Vliet, Jiaze Sun, Yun-An Huang, Maarten J. A. Van den Bossche, Stefan Sunaert, Ron Peeters, Qi Zhu, Wim Vanduffel, Beatrice de Gelder, Francois-Laurent De Winter, Jan Van den Stock
Summary: This study investigates the neural integrity of hyperspecialized and domain-general cortical social brain areas in behavioral variant frontotemporal dementia (bvFTD) by using structural and functional magnetic resonance imaging. The results reveal compromised structure and function in hyperspecialized social areas in bvFTD.
Article
Clinical Neurology
Aurore Delvenne, Johan Gobom, Betty Tijms, Isabelle Bos, Lianne M. Reus, Valerija Dobricic, Mara Ten Kate, Frans Verhey, Inez Ramakers, Philip Scheltens, Charlotte E. Teunissen, Rik Vandenberghe, Jolien Schaeverbeke, Silvy Gabel, Julius Popp, Gwendoline Peyratout, Pablo Martinez-Lage, Mikel Tainta, Magda Tsolaki, Yvonne Freund-Levi, Simon Lovestone, Johannes Streffer, Frederik Barkhof, Lars Bertram, Kaj Blennow, Henrik Zetterberg, Pieter Jelle Visser, Stephanie J. B. Vos
Summary: The pathophysiology of MCI-SNAP is distinct from that of MCI-AD, highlighting the need for different treatment approaches.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Wenting Guo, Haibo Wang, Arun Kumar Tharkeshwar, Julien Couthouis, Elke Braems, Pegah Masrori, Evelien Van Schoor, Yannan Fan, Karan Ahuja, Matthieu Moisse, Maarten Jacquemyn, Rodrigo Furtado Madeiro da Costa, Madhavsai Gajjar, Sriram Balusu, Tine Tricot, Laura Fumagalli, Nicole Hersmus, Rekin's Janky, Francis Impens, Pieter Vanden Berghe, Ritchie Ho, Dietmar Rudolf Thal, Rik Vandenberghe, Muralidhar L. Hegde, Siddharthan Chandran, Bart De Strooper, Dirk Daelemans, Philip Van Damme, Ludo Van den Bosch, Catherine Verfaillie
Summary: In this study, we identified NEK6 as a novel therapeutic target for C9orf72 FTD/ALS by performing a kinome-wide CRISPR/Cas9 knock-out screen in human induced pluripotent stem cell-derived cortical neurons. NEK6 was found to regulate poly(PR)-mediated p53-related DNA damage.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Jiaze Sun, Francois-Laurent De Winter, Fiona Kumfor, Daphne Stam, Kristof Vansteelandt, Ron Peeters, Stefan Sunaert, Rik Vandenberghe, Mathieu Vandenbulcke, Jan Van den Stock
Summary: This study explores the presence of neural functional compensation in the manifest stage of neurodegenerative diseases. The results suggest that compensatory processes can still occur in clinically manifest neurodegeneration, and these processes may operate along nodes in intrinsically connected networks. The findings highlight the potential of using multidimensional neural markers as novel biomarkers for diagnosis and therapy.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Laura Michiels, Liselot Thijs, Nathalie Mertens, Stefan Sunaert, Mathieu Vandenbulcke, Guy Bormans, Geert Verheyden, Michel Koole, Koen Van Laere, Robin Lemmens
Summary: The risk of Alzheimer's disease increases after stroke, and this may not be solely due to traditional vascular risk factors. Tau proteins released from neuronal death may contribute to the formation of neurofibrillary tangles (NFT) after ischemia. The study used F-18-MK-6240 PET to explore the distribution of NFT after ischemic stroke in vivo.
Article
Clinical Neurology
Tim S. Ellison, Stefano F. Cappa, Dawne Garrett, Jean Georges, Takeshi Iwatsubo, Joel H. Kramer, Maryna Lehmann, Constantine Lyketsos, Andrea B. Maier, Jennifer Merrilees, John C. Morris, Sharon L. Naismith, Flavio Nobili, Marco Pahor, Dimity Pond, Louise Robinson, Pinar Soysal, Mathieu Vandenbulcke, Christopher J. Weber, Pieter Jelle Visser, Michael Weiner, Giovanni B. Frisoni
Summary: This study aims to provide guidance on prognosis and assessment indicators for patients with Alzheimer's clinical syndrome. A consensus was reached on priority outcomes, measures, and statements across nine domains using the Delphi method and modified GRADE criteria. This work provides clues for clinicians on the domains and relevant measurement tools that may be used to follow patients with cognitive impairment. More work is needed to develop measurement tools that are more feasible in the context of clinical routine.
ALZHEIMERS & DEMENTIA
(2023)
Article
Rehabilitation
Nathalie Swinnen, Eling D. de Bruin, Vania Guimaraes, Chantal Dumoulin, Jacqueline De Jong, Riekje Akkerman, Mathieu Vandenbulcke, Brendon Stubbs, Davy Vancampfort
Summary: The study aims to explore the feasibility of using an exergame prototype for individuals with major neurocognitive disorder (MNCD) residing in a long-term care facility. The results suggest that the exergame prototype is accepted by individuals with MNCD and can have positive effects when they receive extensive guidance.
DISABILITY AND REHABILITATION
(2023)
Article
Clinical Neurology
Freek ten Doesschate, Willem Bruin, Peter Zeidman, Christopher C. Abbott, Miklos Argyelan, Annemieke Dols, Louise Emsell, Philip F. P. van Eijndhoven, Eric van Exel, Peter C. R. Mulders, Katherine Narr, Indira Tendolkar, Didi Rhebergen, Pascal Sienaert, Mathieu Vandenbulcke, Joey Verdijk, Mike van Verseveld, Hauke Bartsch, Leif Oltedal, Jeroen A. van Waarde, Guido A. van Wingen
Summary: A recent multi-center study found no consistent changes in correlation-based resting-state connectivity after ECT, but effective connectivity may provide more insight into the working mechanism of ECT.
Meeting Abstract
Neurosciences
Thomas Vande Casteele, Maarten Laroy, Margot Van Cauwenberge, Michel Koole, Patrick Dupont, Stefan Sunaert, Jan Van den Stock, Filip Bouckaert, Koen Van Laere, Louise Emsell, Mathieu Vandenbulcke
BIOLOGICAL PSYCHIATRY
(2023)
Article
Public, Environmental & Occupational Health
Davy Vancampfort, James Mugisha, Samuel Kimbowa, Hafsa Lukwata, Tine Van Damme, Mathieu Vandenbulcke
Summary: This study aimed to evaluate whether an 8-hour medical education intervention on dementia care improves the knowledge, attitude, and confidence of healthcare professionals in Uganda. The results showed significant improvements in recognizing and assessing core dementia symptoms, effective communication, providing psycho-education, activating patients mentally and physically, managing behavioral and psychological symptoms, and involving carers in the treatment. This study demonstrates the efficacy of brief educational interventions in enhancing dementia literacy among healthcare professionals in low-income countries.
PAN AFRICAN MEDICAL JOURNAL
(2023)
Article
Linguistics
Antonietta Gabriella Liuzzi, Karen Meersmans, Gerrit Storms, Simon De Deyne, Patrick Dupont, Rik Vandenberghe
Summary: The study found that co-occurrence-based similarities calculated by predictive natural language processing models are not good at representing affective content but are powerful in their own way. The functional and neuroanatomical relationship between these two distinct ways of representing word meaning was investigated. The findings revealed a correlation between affective similarities and word embedding similarities in specific regions of the superior temporal sulcus.
NEUROBIOLOGY OF LANGUAGE
(2023)
Article
Biochemistry & Molecular Biology
Miklos Argyelan, Zhi-De Deng, Olga Therese Ousdal, Leif Oltedal, Brian Angulo, Mate Baradits, Andrew J. Spitzberg, Ute Kessler, Alexander Sartorius, Annemiek Dols, Katherine L. Narr, Randall Espinoza, Jeroen A. van Waarde, Indira Tendolkar, Philip van Eijndhoven, Guido A. van Wingen, Akihiro Takamiya, Taishiro Kishimoto, Martin B. Jorgensen, Anders Jorgensen, Olaf B. Paulson, Antoine Yrondi, Patrice Peran, Carles Soriano-Mas, Narcis Cardoner, Marta Cano, Linda van Diermen, Didier Schrijvers, Jean-Baptiste Belge, Louise Emsell, Filip Bouckaert, Mathieu Vandenbulcke, Maximilian Kiebs, Rene Hurlemann, Peter C. R. Mulders, Ronny Redlich, Udo Dannlowski, Kavakbasi Erhan, Michael D. Kritzer, Kristen K. Ellard, Joan A. Camprodon, Georgios Petrides, Anil K. Malhotra, Christopher C. Abbott
Summary: Neurostimulation is a common treatment option for major depression, and this study found that electroconvulsive therapy has similar neuronal underpinnings to a causal depression network. The expression of this pattern was correlated with clinical outcomes, suggesting that optimizing modulation of this network could improve the effectiveness of neurostimulation in depression.
MOLECULAR PSYCHIATRY
(2023)
Article
Behavioral Sciences
Astrid Devulder, Jaiver Macea, Alexandros Kalkanis, Francois-Laurent De Winter, Mathieu Vandenbulcke, Rik Vandenberghe, Dries Testelmans, Maarten J. A. Van Den Bossche, Wim Van Paesschen
Summary: Subclinical epileptiform activity (SEA) and sleep disturbances are frequent in Alzheimer's disease (AD), and they have an important relationship to cognition and potential therapeutic implications. The study found that SEA was three times more prevalent in AD patients, and they also had lower sleep efficacy, longer wake after sleep onset, more awakenings, less REM sleep, and higher indexes for sleep-disordered breathing. These findings suggest a possible connection between SEA and sleep disturbances in AD, which could have diagnostic and therapeutic implications.
BRAIN AND BEHAVIOR
(2023)
Proceedings Paper
Acoustics
Bastiaan Tamm, Rik Vandenberghe, Hugo Van Hamme
Summary: This paper focuses on the performance analysis of a pre-trained model in speech quality assessment. The study identifies two optimal regions, lower-level features and high-level features, and explores their differences and potential reasons. Additionally, the paper attempts to fuse the two optimal feature depths and assesses the performance of the proposed models.
2023 IEEE WORKSHOP ON APPLICATIONS OF SIGNAL PROCESSING TO AUDIO AND ACOUSTICS, WASPAA
(2023)