Article
Biochemistry & Molecular Biology
Christina Vasilopoulou, Sarah L. L. McDaid-McCloskey, Gavin McCluskey, Stephanie Duguez, Andrew P. P. Morris, William Duddy
Summary: This study aimed to identify and explore biological pathways and other gene sets associated with ALS using genomic data from the dbGaP repository. A large ALS-control cohort of European descent was assembled, and gene-set analysis revealed statistically significant associations with gene sets related to immune response, apoptosis, lipid metabolism, neuron differentiation, muscle cell function, synaptic plasticity, and development. Novel interactions between gene sets were also observed, suggesting mechanistic overlaps.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Plant Sciences
Vinitchan Ruanjaichon, Kanogporn Khammona, Burin Thunnom, Khundej Suriharn, Chalong Kerdsri, Wanchana Aesomnuk, Arweewut Yongsuwan, Naraporn Chaomueang, Paradee Thammapichai, Siwaret Arikit, Samart Wanchana, Theerayut Toojinda
Summary: Through genome-wide association study, key genes affecting sweetness trait in sweet corn were identified, and SNP markers capable of quickly distinguishing sweet corn varieties were successfully developed and validated in inbred, recombinant inbred, and popular corn varieties.
Article
Biochemistry & Molecular Biology
Hao Ding, Guangzhen Zhou, Long Zhao, Xinyu Li, Yicheng Wang, Chengcai Xia, Zhiqiang Xia, Yinglang Wan
Summary: By studying the fruit shape of 137 areca germplasms, 45,094 high-quality SNPs were identified, and 86 candidate genes associated with areca fruit shape were found. Among them, the UGT85A2 gene was significantly upregulated in columnar fruits, providing genetic data for areca breeding and new insights into the formation mechanisms of fruit shape.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Plant Sciences
Xujiang Wu, Junchan Wang, Di Wu, Wei Jiang, Zhifu Gao, Dongsheng Li, Rongling Wu, Derong Gao, Yong Zhang
Summary: A genome-wide association study of sharp eyespot resistance in 262 wheat varieties from all China wheat regions identified two QTLs and 5 significantly related SNP loci. Results showed that only 6.5% of the varieties were resistant to sharp eyespot, with varieties from the middle and lower Yangtze River exhibiting higher resistance than those from Huanghuai wheat zone.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Medicine, General & Internal
Salvatore D'Antona, Gloria Bertoli, Isabella Castiglioni, Claudia Cava
Summary: This study used bioinformatics to analyze genetic differences related to ALS among populations in the UK and Europe, identifying key genetic variations and pathways that may influence the onset of ALS.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Neurosciences
Kelly A. Rich, Jennifer Roggenbuck, Stephen J. Kolb
Summary: GWAS and RVAS are used to analyze genetic variation in complex diseases, identifying variants and biological pathways associated with disease status. However, the novel associations identified by these methods typically have lower effect sizes and have not yet led to new therapeutic interventions.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Neurosciences
Chunyu Li, Qianqian Wei, Yanbing Hou, Junyu Lin, Ruwei Ou, Lingyu Zhang, Qirui Jiang, Yi Xiao, Kuncheng Liu, Xueping Chen, Tianmi Yang, Wei Song, Bi Zhao, Ying Wu, Huifang Shang
Summary: Research findings suggest that the NEAT1 gene is associated with age at onset (AAO) of amyotrophic lateral sclerosis (ALS) and plays a key role in disease progression. These results improve the understanding of genetic factors in ALS AAO and provide a new target for further research on the pathogenesis and therapeutic options for delaying disease onset.
MOLECULAR NEURODEGENERATION
(2023)
Review
Biochemistry & Molecular Biology
Katarina Maksimovic, Mohieldin Youssef, Justin You, Hoon-Ki Sung, Jeehye Park
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons, leading to muscle weakness, paralysis, and eventual death. Recent research has shown that ALS is not only limited to motor neurons, but also involves systemic metabolic dysfunction. This review examines the metabolic dysfunction in ALS at various levels, including muscle tissue, adipose tissue, liver, pancreas, and the central nervous system. It also discusses the future prospects of metabolic research in ALS and potential treatment options.
Article
Medicine, General & Internal
Chun Yu Li, Tian Mi Yang, Ru Wei Ou, Qian Qian Wei, Hui Fang Shang
Summary: The study found a significant positive genetic correlation between ALS and celiac disease, multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus, as well as a significant negative genetic correlation between ALS and inflammatory bowel disease, ulcerative colitis, and Crohn's disease. Three novel ALS risk genes were identified among shared risk loci.
Article
Plant Sciences
M. F. Franco, A. N. Polacco, P. E. Campos, A. C. Pontaroli, L. S. Vanzetti
Summary: A genome-wide association study was conducted to identify markers associated with resistance to wheat stripe rust in Argentina, and 8 markers were found to be significantly associated with resistance.
Article
Plant Sciences
Narayana Bhat Devate, Hari Krishna, Sunil Kumar V. Parmeshwarappa, Karthik Kumar Manjunath, Divya Chauhan, Shweta Singh, Jang Bahadur Singh, Monu Kumar, Ravindra Patil, Hanif Khan, Neelu Jain, Gyanendra Pratap Singh, Pradeep Kumar Singh
Summary: This study conducted a genome-wide association study to identify markers associated with traits under heat and drought stress in bread wheat. The results provide valuable markers that can be used for marker-assisted breeding to develop climate-resilient cultivars.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Plant Sciences
Kyu-Won Kim, Bhagwat Nawade, Jungrye Nam, Sang-Ho Chu, Jungmin Ha, Yong-Jin Park
Summary: This study presents an integrated SNP array system for rice breeding research, which combines SNPs from eight different data resources. The developed 580 K Axiom Rice Genotyping Chip demonstrates robust and highly efficient genotyping in various studies, including GWAS and GS. This cost-effective genotyping platform will accelerate rice breeding research.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Plant Sciences
Yanjun Chen, Suzhen Niu, Xinyue Deng, Qinfei Song, Limin He, Dingchen Bai, Yingqin He
Summary: This study identified 100,829 SNP markers and candidate genes associated with tea leaf traits through genotyping-by-sequencing and GWAS analysis of tea germplasm in Guizhou Plateau. The findings provide a theoretical and practical basis for genetic breeding of related traits in tea plant leaves.
Article
Plant Sciences
Julio Cesar F. Elias, Maria Celeste Goncalves-Vidigal, Andrea Ariani, Giseli Valentini, Maria da Conceicao Martiniano-Souza, Mariana Vaz Bisneta, Paul Gepts
Summary: Abiotic stress is a limiting factor for common bean production globally. Based on genotyping-by-sequencing analysis, associations between SNPs and bioclimatic indexes were discovered on chromosomes Pv01, Pv02, Pv03, Pv04, Pv06, Pv09, Pv10, and Pv11 of common bean. Candidate genes related to temperature and precipitation were identified, suggesting the potential for developing drought-tolerant cultivars through marker-assisted selection.
Article
Fisheries
Xinxin Shan, Tengfei Xu, Zhiyuan Ma, Xinhui Zhang, Zhiqiang Ruan, Jieming Chen, Qiong Shi, Xinxin You
Summary: This study aimed to improve the ammonia tolerance of groupers through genomic selection, predicting the genomic estimated breeding values using genome-wide loci and single nucleotide polymorphisms. Results showed that the method based on GWAS-informative SNPs performed better in cost-efficiency for genomic selection.
Article
Medicine, General & Internal
Constanze Stolz-Klingenberg, Claudia Buenzen, Marie Coors, Charlotte Flueh, Klarissa Hanja Stuerner, Kai Wehkamp, Marla L. Clayman, Fueloep Scheibler, Jens Ulrich Rueffer, Wiebke Schuettig, Leonie Sundmacher, Daniela Berg, Friedemann Geiger
Summary: SHARE TO CARE (S2C) is a comprehensive program aimed at promoting shared decision making (SDM). It has been successfully implemented at the University Hospital Schleswig-Holstein in Kiel, Germany, and among general practitioners in the Federal State of Bremen. The results of the implementation showed an increase in patients' perceived involvement in medical decision making.
PATIENT PREFERENCE AND ADHERENCE
(2023)
Article
Neurosciences
Marta Soto, Manel Fernandez, Paloma Bravo, Sara Lahoz, Alicia Garrido, Antonio Sanchez-Rodriguez, Maria Rivera-Sanchez, Maria Sierra, Paula Melon, Ana Roig-Garcia, Anna Naito, Bradford Casey, Jordi Camps, Eduardo Tolosa, Maria-Jose Marti, Jon Infante, Mario Ezquerra, Ruben Fernandez-Santiago
Summary: The LRRK2 G2019S mutation is associated with Parkinson's disease, but its penetrance is not complete. By longitudinally assessing miRNA expression in serum samples from individuals with the G2019S mutation who have not developed PD symptoms, the researchers identified potential biomarkers for premotor stages of PD. They also found miRNAs that have the potential to be early progression biomarkers for PD.
NPJ PARKINSONS DISEASE
(2023)
Letter
Clinical Neurology
Gunther Deuschl, Angelo Antonini, Joao Costa, Katarzyna Smilowska, Daniela Berg, Jean-Christophe Corvol, Giovanni Fabbrini, Joaquim Ferreira, Tom Foltynie, Pablo Mir, Anette Schrag, Klaus Seppi, Pille Taba, Evzen Ruzicka, Marianna Selikhova, Nicholas Henschke, Gemma Villanueva, Elena Moro
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Anastasia Kuzkina, Celine Panzer, Aline Seger, Daniela Schmitt, Jonas Roessle, Sebastian R. Schreglmann, Henrike Knacke, Elena Salabasidou, Antonia Kohl, Elisabeth Sittig, Michael Barbe, Daniela Berg, Jens Volkmann, Claudia Sommer, Wolfgang H. Oertel, Eva Schaeffer, Michael Sommerauer, Annette Janzen, Kathrin Doppler
Summary: The study assessed the use of RT-QuIC method to detect alpha-synuclein aggregation in skin biopsy samples of iRBD patients. It was found that 97.4% of iRBD patients, 87.2% of PD patients, and 13% of controls showed aggregation of alpha-synuclein. RT-QuIC was more sensitive but less specific compared to immunohistochemistry.
MOVEMENT DISORDERS
(2023)
Letter
Clinical Neurology
Guenther Deuschl, Angelo Antonini, Joao Costa, Katarzyna Smilowska, Daniela Berg, Jean-Christophe Corvol, Giovanni Fabbrini, Joaquim Ferreira, Tom Foltynie, Pablo Mir, Anette Schrag, Klaus Seppi, Pille Taba, Evzen Ruzicka, Marianna Selikhova, Nicholas Henschke, Gemma Villanueva, Elena Moro
MOVEMENT DISORDERS
(2023)
Article
Neurosciences
Tatyana D. Fedorova, Karoline Knudsen, Thorsten K. Rasmussen, Jacob Horsager, Adjmal Nahimi, Casper Skjaerbaek, Eva Schaeffer, Daniela Berg, Astrid J. Terkelsen, Per Borghammer
Summary: Thyroid [123I]MIBG uptake is proposed as a tool to differentiate between Parkinson's disease (PD) and diabetes mellitus (DM). A study found reduced [123I]MIBG uptake only in the PD group. However, our investigation showed severely reduced [123I]MIBG uptake in DM patients. Further studies are needed to determine the likelihood of decreased thyroid MIBG uptake in DM patients compared to controls and PD patients.
IBRO NEUROSCIENCE REPORTS
(2023)
Article
Clinical Neurology
Stephan Greten, Florian Wegner, Ida Jensen, Lea Krey, Sophia Rogozinski, Meret Fehring, Johanne Heine, Johanna Doll-Lee, Monika Poetter-Nerger, Molly Zeitzschel, Keno Hagena, David J. Pedrosa, Carsten Eggers, Katrin Buerk, Claudia Trenkwalder, Inga Claus, Tobias Warnecke, Patrick Suess, Juergen Winkler, Doreen Gruber, Florin Gandor, Daniela Berg, Steffen Paschen, Joseph Classen, Elmar H. Pinkhardt, Jan Kassubek, Wolfgang H. Jost, Lars Toenges, Andrea A. Kuehn, Johannes Schwarz, Oliver Peters, Eman Dashti, Josef Priller, Eike J. Spruth, Patricia Krause, Annika Spottke, Anja Schneider, Aline Beyle, Okka Kimmich, Markus Donix, Robert Haussmann, Moritz Brandt, Elisabeth Dinter, Jens Wiltfang, Bjoern H. Schott, Inga Zerr, Mathias Baehr, Katharina Buerger, Daniel Janowitz, Robert Perneczky, Boris-Stephan Rauchmann, Endy Weidinger, Johannes Levin, Sabrina Katzdobler, Emrah Duezel, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Johannes Prudlo, Thomas Gasser, Kathrin Brockmann, Daniel C. Hoffmann, Thomas Klockgether, Olaf Krause, Johannes Heck, Guenter U. Hoeglinger, Martin Klietz
Summary: This study explored the pattern of comorbidities and co-medication in PSP patients. It found that PSP patients have a higher prevalence of cardiovascular diseases and diabetes, and they receive a greater number of drugs, leading to a higher prevalence of polypharmacy.
JOURNAL OF NEUROLOGY
(2023)
Article
Psychology, Multidisciplinary
Lydia Kastner, Ulrike Suenkel, Gerhard W. Eschweiler, Theresa Dankowski, Anna-Katharina von Thaler, Christian Mychajliw, Kathrin Brockmann, Walter Maetzler, Daniela Berg, Andreas J. Fallgatter, Sebastian Heinzel, Ansgar Thiel
Summary: Older age is a major risk factor for severe COVID-19. In 2020, there was a broad political debate on whether older adults need special protection and isolation to minimize their risk of SARS-CoV-2 infection. However, isolation may also have indirect negative psychological or physical consequences depending on individual coping strategies and personality traits.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Clinical Neurology
Nir Giladi, Roy N. Alcalay, Gary Cutter, Thomas Gasser, Tanya Gurevich, Guenter U. Hoeglinger, Kenneth Marek, Claudio Pacchetti, Anthony H. Schapira, Clemens R. Scherzer, Tanya Simuni, Pascal Minini, S. Pablo Sardi, M. Judith Peterschmitt
Summary: The safety, efficacy, and target engagement of venglustat in early-stage Parkinson's disease patients with GBA1 variants were assessed. The study showed that venglustat had a satisfactory safety profile but did not show beneficial treatment effect compared with placebo. These findings suggest that glucosylceramide synthase inhibition with venglustat may not be a viable therapeutic approach for GBA1-associated Parkinson's disease.
Meeting Abstract
Clinical Neurology
C. Zatti, A. Pilotto, A. Rizzardi, M. Catania, L. Purin, M. Pasolini, C. Hansen, R. Romijnders, E. Schaeffer, A. Galbiati, L. Ferini Strambi, D. Berg, W. Maetzler, A. Padovani
MOVEMENT DISORDERS
(2023)
Meeting Abstract
Clinical Neurology
A. Kluge, E. Schaeffer, K. Brockmann, C. Schulte, C. Deuschle, J. Bunk, W. Maetzler, D. Berg
MOVEMENT DISORDERS
(2023)
Meeting Abstract
Clinical Neurology
I. Liepelt-Scarfone, M. Bode, S. Solbrig, K. Brockmann, W. Maetzler, I. Wurster, M. Timmers, D. Berg, S. Becker
MOVEMENT DISORDERS
(2023)
Meeting Abstract
Clinical Neurology
S. Paschen, J. Becktepe, M. Hobert, K. Zeuner, A. Helmers, D. Berg, G. Deuschl
MOVEMENT DISORDERS
(2023)
Meeting Abstract
Clinical Neurology
S. Becker, O. Granert, C. Schulte, K. Brockmann, B. Roeben, M. Bode, M. Timmers, K. Scheffler, W. Maetzler, D. Berg, I. Liepelt-Scarfone
MOVEMENT DISORDERS
(2023)
Correction
Clinical Neurology
Annika Kluge, Josina Bunk, Eva Schaeffer, Alice Drobny, Wei Xiang, Henrike Knacke, Simon Bub, Wiebke Lueckstaedt, Philipp Arnold, Ralph Lucius, Daniela Berg, Friederike Zunke
Article
Geriatrics & Gerontology
Sarah N. Kraeutner, Cristina Rubino, Jennifer K. Ferris, Shie Rinat, Lauren Penko, Larissa Chiu, Brian Greeley, Christina B. Jones, Beverley C. Larssen, Lara A. Boyd
Summary: This study examined the age-related changes in brain function and baseline brain structure that support motor skill acquisition. The findings showed that older adults experienced decreases in functional connectivity during motor skill acquisition, while younger adults experienced increases. Additionally, regardless of age group, lower baseline microstructure in a frontoparietal tract was associated with slower motor skill acquisition.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Karen Nuytemans, Farid Rajabli, Melissa Jean-Francois, Jiji Thulaseedhara Kurup, Larry D. Adams, Takiyah D. Starks, Patrice L. Whitehead, Brian W. Kunkle, Allison Caban-Holt, Jonathan L. Haines, Michael L. Cuccaro, Jeffery M. Vance, Goldie S. Byrd, Gary W. Beecham, Christiane Reitz, Margaret A. Pericak-Vance
Summary: This study conducted genetic research on African American AD families and identified a significant linkage signal associated with AD, highlighting the importance of diverse population-level genetic data in understanding the genetic determinants of AD.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Kazuya Suwabe, Ryuta Kuwamizu, Kazuki Hyodo, Toru Yoshikawa, Takeshi Otsuki, Asako Zempo-Miyaki, Michael A. Yassa, Hideaki Soya
Summary: Physical exercise has a positive impact on hippocampal memory decline with aging. Recent studies have shown that even light exercise can improve memory and this improvement is mediated by the ascending arousal system. This study aimed to investigate the effects of light-intensity exercise on hippocampal memory function in healthy older adults and found that pupil dilation during exercise played a role in the memory improvement.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Ajay Sood, Ana Werneck Capuano, Robert Smith Wilson, Lisa Laverne Barnes, Alifiya Kapasi, David Alan Bennett, Zoe Arvanitakis
Summary: The objective of this study was to explore the impact of metformin on cognition and brain pathology. The results showed that metformin users had slower decline in global cognition, episodic memory, and semantic memory compared to non-users. However, the relationship between metformin use and certain brain pathology remains uncertain.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Brian N. Lee, Junwen Wang, Molly A. Hall, Dokyoon Kim, Shana D. Stites, Li Shen
Summary: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by memory and functional impairments. This study analyzed participants from the Alzheimer's Disease Neuroimaging Initiative and found differential associations between cerebral spinal fluid (CSF)/neuroimaging biomarkers and cognitive/functional outcomes, as well as variations between sexes. These findings suggest that sex differences may play a role in the development of AD.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Madeline R. Hale, Rebecca Langhough, Lianlian Du, Bruce P. Hermann, Carol A. Van Hulle, Margherita Carboni, Gwendlyn Kollmorgenj, Kristin E. Basche, Davide Bruno, Leah Sanson-Miles, Erin M. Jonaitis, Nathaniel A. Chin, Ozioma C. Okonkwo, Barbara B. Bendlin, Cynthia M. Carlsson, Henrik Zetterberg, Kaj Blennow, Tobey J. Betthauser, Sterling C. Johnson, Kimberly D. Mueller
Summary: This study demonstrates a relationship between cerebrospinal fluid biomarkers and the ability to recall proper names in the preclinical phase of Alzheimer's disease.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Thomas T. Austin, Christian L. Thomas, Ben Warren
Summary: This study investigated the effects of age on the robustness and resilience of auditory system using the desert locust. The researchers found that gene expression changes were mainly influenced by age rather than noise exposure. Both young and aged locusts were able to recover their auditory nerve function within 48 hours of noise exposure, but the recovery of transduction current magnitude was impaired in aged locusts. Key genes responsible for robustness to noise exposure in young locusts and potential candidates for compensatory mechanisms in auditory neurons of aged locusts were identified.
NEUROBIOLOGY OF AGING
(2024)
