Article
Neurosciences
Kyle J. Trageser, Eun-Jeong Yang, Chad Smith, Ruth Iban-Arias, Tatsunori Oguchi, Maria Sebastian-Valverde, Umar Haris Iqbal, Henry Wu, Molly Estill, Md Al Rahim, Urdhva Raval, Francis J. Herman, Yong Jie Zhang, Leonard Petrucelli, Giulio Maria Pasinetti
Summary: Hexanucleotide repeat expansions in C9orf72 gene cause frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS) and lead to the production of toxic dipeptide repeat (DPR) proteins, with poly(glycine-arginine) (GR) being the most toxic and accumulating in relevant brain regions. Neuroinflammation is a driving factor in the disease, and increased inflammasome-mediated neuroinflammation is observed in C9orf72 FTD/ALS mice, suggesting a role for HRE in innate immunity and the NLRP3 inflammasome as a potential therapeutic target.
MOLECULAR NEUROBIOLOGY
(2023)
Review
Clinical Neurology
Philippe Corcia, Christian Lunetta, Patrick Vourc'h, Pierre-Francois Pradat, Helene Blasco
Summary: This article reviews the progress in the diagnosis, monitoring, and treatment of amyotrophic lateral sclerosis (ALS). Despite the difficulty in diagnosing and the lack of a cure for ALS, there is evidence to suggest that an optimistic view of ALS management in the coming years is now realistic.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Pharmacology & Pharmacy
Raquel Manzano, Janne Markus Toivonen, Laura Moreno-Martinez, Miriam de la Torre, Leticia Moreno-Garcia, Tresa Lopez-Royo, Nora Molina, Pilar Zaragoza, Ana Cristina Calvo, Rosario Osta
Summary: Amyotrophic lateral sclerosis (ALS) is an adult onset disorder with unknown origins in most cases. Recent studies have shown that peripheral tissues, especially skeletal muscle, play an active role in disease pathology, sparking interest in these tissues as therapeutic targets for ALS.
BRITISH JOURNAL OF PHARMACOLOGY
(2021)
Review
Geriatrics & Gerontology
Di He, Yan, Xu, Mingsheng Liu, Liying Cui
Summary: Amyotrophic lateral sclerosis (ALS) is a genetically complex neurodegenerative disease that is associated with immune dysfunction. Neuroinflammation, characterized by abnormal immune cell activation and excessive production of inflammatory cytokines, plays a significant role in the pathophysiology of ALS. This review examines recent evidence on the role of ALS-associated mutant genes in immune dysregulation, with a focus on the cGAS-STING signaling pathway and m6A-mediated immune regulation in neurodegeneration. It also discusses immune cell perturbation in both the central nervous system and peripheral tissues in ALS, as well as advancements in genetic and cell-based therapies for ALS. Understanding the complex relationship between ALS and neuroinflammation is crucial for the development of effective treatments for this debilitating disorder.
Review
Neurosciences
Agnes L. Nishimura, Natalia Arias
Summary: Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disease caused by motor neuron degeneration. Loss of C9orf72 function and toxic effects of repeat expansions may contribute to the pathogenesis of ALS, leading to neurotransmission deficiencies.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Neurosciences
Koh Tadokoro, Toru Yamashita, Jingwei Shang, Yasuyuki Ohta, Emi Nomura, Ryuta Morihara, Yoshio Omote, Mami Takemoto, Koji Abe
Summary: The molecular switch from the ubiquitin-proteasome system (UPS) to autophagy in ALS not only occurred in motor neurons but also in astroglia, exacerbating the production of protein aggregates.
Review
Biochemistry & Molecular Biology
Maria Elena Cicardi, Lara Marrone, Mimoun Azzouz, Davide Trotti
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with complex pathological mechanisms involving the seeding and transmission of pathological proteins. Evidence suggests that the rapid propagation of these proteins along the neural axis contributes to the fast progression of ALS. This review highlights the behavior of ALS-associated proteins like SOD1, FUS, TDP-43, and C9orf72-linked dipeptide repeats in the disease, discussing their potential as biomarkers and implications for future research.
Article
Health Care Sciences & Services
Izaro Kortazar-Zubizarreta, Africa Manero-Azua, Juan Afonso-Aguera, Guiomar Perez de Nanclares
Summary: The expanded GGGGCC hexanucleotide repeat in the C9ORF72 gene is the most common genetic cause of familial forms of ALS, FTD, and ALS-FTD. This study describes the clinical-genetic findings in a Basque family and provides a narrative review of the main features associated with C9ORF72-HRE. The study highlights the challenge of medication development due to the clinical variability of C9ORF72-HRE.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Clinical Neurology
Lu Tang, Lu Chen, Xiaolu Liu, Ji He, Yan Ma, Nan Zhang, Dongsheng Fan
Summary: A study found that a repeat length of 2 in the C9orf72 gene may be associated with better survival in ALS patients without C9orf72 repeat expansions, while the repeat length of the ATXN2 gene does not have a significant impact. Age of onset, diagnostic delay, and carrying the C9orf72 repeat length of 2 were found to influence the survival of patients without C9orf72 repeat expansions, with bulbar onset being associated with poorer survival when patients carried a maximum C9orf72 repeat allele over 2.
FRONTIERS IN NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Yixin Wang, Liu Liu, Hui Chen, Yinxue Yang, Chenchen Mu, Haigang Ren, Yanli Liu, Liqiang Yu, Qi Fang, Guanghui Wang, Zongbing Hao
Summary: This study identified severe DNA damage caused by poly-PR and its interaction with the ALS-related FUS protein, suggesting a potential therapeutic role of FUS in alleviating poly-PR-induced cell toxicity.
HUMAN MOLECULAR GENETICS
(2023)
Review
Clinical Neurology
Michael Benatar, Joanne Wuu, Caroline McHutchison, Ronald B. Postuma, Bradley F. Boeve, Ronald Petersen, Christopher A. Ross, Howard Rosen, Jalayne J. Arias, Stephanie Fradette, Michael P. McDermott, Jeremy Shefner, Christine Stanislaw, Sharon Abrahams, Stephanie Cosentino, Peter M. Andersen, Richard S. Finkel, Volkan Granit, Anne-Laure Grignon, Jonathan D. Rohrer, Corey T. McMillan, Murray Grossman, Ammar Al-Chalabi, Martin R. Turner
Summary: Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis. Advances in other neurodegenerative diseases provide valuable insights and highlight opportunities for discovery in ALS. Biomarkers play a critical role in studying pre-symptomatic ALS and are essential for early therapeutic intervention and disease prevention.
Article
Neurosciences
Cassandra N. Dennys, Florence Roussel, Rochelle Rodrigo, Xiaojin Zhang, Andrea Sierra Delgado, Annalisa Hartlaub, Asya Saelim-Ector, Will Ray, Sarah Heintzman, Ashley Fox, Stephen J. Kolb, Joseph Beckman, Maria Clara Franco, Kathrin Meyer
Summary: Patient diversity and unknown disease cause pose challenges for drug development and clinical trial design in ALS. Reprogramming patient fibroblasts to neuronal progenitor cells can generate disease relevant cell types for compound testing. CuATSM, currently in clinical trial for ALS, showed a differential effect on neuronal survival in co-culture assays. Elevated mitochondrial respiration was observed in all CuATSM-responders, suggesting a potential metabolic mechanism for CuATSM's therapeutic effects.
Review
Biochemistry & Molecular Biology
Teresa Pardo-Moreno, Himan Mohamed-Mohamed, Sami Suleiman-Martos, Juan Jose Ramos-Rodriguez, Antonio Rivas-Dominguez, Lucia Melguizo-Rodriguez, Jose L. Gomez-Urquiza, Beatriz Bermudez-Pulgarin, Victoria Garcia-Morales
Summary: The aim of this study was to analyze the possible relationship between the rate of disease progression and plasma lipid levels at the early stage of ALS. The results of the meta-analytic study suggest that there is no clear relationship between the symptoms observed in ALS patients and the plasma lipid levels. Further research expansion and geographic diversity would be of interest.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Geriatrics & Gerontology
Suzanna Edgar, Melina Ellis, Nur Adilah Abdul-Aziz, Khean-Jin Goh, Nortina Shahrizaila, Marina L. Kennerson, Azlina Ahmad-Annuar
Summary: This study identified mutations in SOD1 and C9orf72 genes in a multi-ethnic Malaysian ALS cohort, with a mutation frequency of 5.9%. No mutations were found in FUS and TARDBP genes. Further investigation is needed to uncover novel genes and disease pathways in ALS.
NEUROBIOLOGY OF AGING
(2021)
Article
Genetics & Heredity
Jiahao Cai, Xiong Chen, Hongxuan Wang, Zixin Wei, Mei Li, Xiaoming Rong, Xiangpen Li, Ying Peng
Summary: The study found no causal relationship between iron status and the risk of ALS. Efforts to change iron status to reduce ALS incidence may be impractical.
FRONTIERS IN GENETICS
(2021)
Review
Hematology
J. D. Lai, D. Lillicrap
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2017)
Article
Hematology
Jesse D. Lai, Laura L. Swystun, Dominique Cartier, Kate Nesbitt, Cunjie Zhang, Christine Hough, James W. Dennis, David Lillicrap
Article
Hematology
J. D. Lai, D. Cartier, R. B. Hartholt, L. L. Swystun, A. S. van Velzen, J. M. M. den Haan, C. Hough, J. Voorberg, D. Lillicrap
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2018)
Article
Hematology
Jesse D. Lai, Laura L. Swystun, Dominique Cartier, Kate Nesbitt, Cunjie Zhang, Christine Hough, James W. Dennis, David Lillicrap
Article
Medicine, Research & Experimental
Laura L. Swystun, Jesse D. Lai, Colleen Notley, Ilinca Georgescu, A. Simonne Paine, Jeff Mewburn, Kate Nesbitt, Kai Schledzewski, Cyrill Geraud, Julia Kzhyshkowska, Sergij Goerdt, Wilma Hopman, Robert R. Montgomery, Paula D. James, David Lillicrap
JOURNAL OF CLINICAL INVESTIGATION
(2018)
Article
Developmental Biology
Justin K. Ichida, Kim A. Staats, Brandi N. Davis-Dusenbery, Kendell Clement, Kate E. Galloway, Kimberly N. Babos, Yingxiao Shi, Esther Y. Son, Evangelos Kiskinis, Nicholas Atwater, Hongcang Gu, Andreas Gnirke, Alexander Meissner, Kevin Eggan
Article
Hematology
Laura L. Swystun, Colleen Notley, Ilinca Georgescu, Jesse D. Lai, Kate Nesbitt, Paula D. James, David Lillicrap
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2019)
Article
Hematology
Laura L. Swystun, Kenichi Ogiwara, Jesse D. Lai, Juha R. M. Ojala, Orla Rawley, Fanny Lassalle, Colleen Notley, Olle Rengby, Alison Michels, Kate Nesbitt, Karl Tryggvason, David Lillicrap
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2019)
Article
Immunology
Giuseppe Barisano, Kassandra Kisler, Brent Wilkinson, Angeliki Maria Nikolakopoulou, Abhay P. Sagare, Yaoming Wang, William Gilliam, Mikko T. Huuskonen, Shu-Ting Hung, Justin K. Ichida, Fan Gao, Marcelo P. Coba, Berislav Zlokovic
Summary: APOE4 leads to early disruption of the blood-brain barrier and subsequent synaptic dysfunction and behavioral deficits. Changes in signaling mechanisms related to this process were revealed through RNA sequencing and proteome analysis.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Cell & Tissue Engineering
Kazuki Morita, Akihiro Nakamura, Masakazu Machida, Tomoyuki Kawasaki, Rina Nakanishi, Justin Ichida, Takanori Iwata, Akihiro Umezawa, Hidenori Akutsu
Summary: Chemical inhibition of the NOTCH signaling pathway and DOT1L promotes the generation of hiPSCs from keratinocytes and significantly increases iPSC colony generation from human fibroblast cells via mRNA reprogramming. The user-friendly reprogramming approach using a single-cell sorting system under efficient conditions opens up possibilities for industrial applications in disease modeling and drug screening.
REGENERATIVE THERAPY
(2022)
Article
Biochemical Research Methods
Pooja Hor, Justin K. Ichida, Zea Borok, Amy L. Ryan
Article
Medicine, Research & Experimental
Yingxiao Shi, Shu-Ting Hung, Gabriel Rocha, Shaoyu Lin, Gabriel R. Linares, Kim A. Staats, Carina Seah, Yaoming Wang, Michael Chickering, Jesse Lai, Tohru Sugawara, Abhay P. Sagare, Berislav Zlokovic, Justin K. Ichida
Article
Hematology
Jesse Lai, Christine Hough, Julie Tarrant, David Lillicrap
Article
Neurosciences
Song Xue, Feng Kong, Yiying Song, Jia Liu
Summary: This study used resting-state functional magnetic resonance imaging to explore the relationship between individual's spontaneous neural activity and social interaction anxiety in a nonclinical population. The results showed that social interaction anxiety was correlated with the fractional amplitude of low-frequency fluctuations in several brain regions, and that emotional intelligence partially mediated this relationship. This study provides evidence for the neural basis of social interaction anxiety in the normal population and highlights the role of emotional intelligence in this anxiety.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Katsuyuki Yamaguchi, Takuya Yazawa
Summary: This study provides morphometric data on the development of the human medullary arcuate nucleus (AN) by examining the brains of preterm and perinatal infants. The results show that AN morphology demonstrates asymmetry and individual variability during the fetal period. The volume and neuronal number of AN increase exponentially with age, while neuronal density decreases exponentially. The AN may undergo neuron death and neuroblasts production after mid-gestation.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Zhan Zhou, Weixin Dai, Tianxiao Liu, Min Shi, Yi Wei, Lifei Chen, Yubo Xie
Summary: Studies have shown that propofol-induced neurotoxicity is caused by disruption of mitochondrial fission and fusion, leading to an energy supply imbalance for developing neurons. Healthy mitochondria released by astrocytes can migrate to compromised neurons to mitigate propofol-induced neurotoxicity, but the exact mechanisms involved still need further clarification.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
An Chen, Song Hao, Yongpeng Han, Yang Fang, Yibei Miao
Summary: This study explores the efficacy of two forms of BCI attention training games and finds that physical games may be more effective than video games. The research also offers valuable insights for future game design from a neuroscience perspective.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Lina Liu, Luran Liu, Yunting Lu, Tianyuan Zhang, Wenting Zhao
Summary: This study reveals that GDI1 serves as a potential diagnostic biomarker for AD and inhibition of GDI1 can attenuate Aβ-induced neurotoxicity. The findings offer new insights for the treatment of AD.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Zahra Gholami, Ava Soltani Hekmat, Ali Abbasi, Kazem Javanmardi
Summary: This study investigated the effects of alamandine on allodynia in a rat model and found the presence of MrgD receptors in the vlPAG and RVM regions. Microinjection of alamandine resulted in a significant increase in paw withdrawal threshold and could be blocked by an MrgD receptor antagonist. Upregulation of MrgD receptor expression following allodynia induction suggests a potential compensatory mechanism in response to pain.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Mingliang Xu, Lei Xia, Junjie Li, Yehong Du, Zhifang Dong
Summary: This study found that DHF effectively alleviates sevoflurane-induced cognitive impairment in developing mice by restoring the balance between tau O-GlcNAcylation and phosphorylation. Therefore, DHF has the potential to be a therapeutic agent for treating cognitive impairment associated with anesthetics, such as sevoflurane.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Tsubasa Mitsutake, Hisato Nakazono, Takanori Taniguchi, Hisayoshi Yoshizuka, Maiko Sakamoto
Summary: The posterior parietal cortex plays a crucial role in postural stability, and transcranial electrical stimulation of this region can modulate physical control responses. This study found that cathodal stimulation significantly decreased joint angular velocity in multiple directions, while there were no significant differences with transcranial random noise stimulation.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Xishuai Yang, Wei Zhang, Xueli Chang, Zuopeng Li, Runquan Du, Junhong Guo
Summary: This study aims to evaluate the efficacy of low-dose rituximab (RTX) in patients with muscle-specific kinase antibody positive myasthenia gravis (MuSK-MG). The results showed that low-dose RTX treatment led to significant improvements in clinical symptoms and quality of life for patients with MuSK-MG.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Jian Zhang, Shunyuan Guo, Rong Tao, Fan Wang, Yihong Xie, Huizi Wang, Lan Ding, Yuejian Shen, Xiaoli Zhou, Junli Feng, Qing Shen
Summary: This study established an Alzheimer's disease (AD) model of zebrafish induced by AlCl3 and found that marine-derived plasmalogens (Pls) could alleviate cognitive impairments of AD zebrafish by reversing athletic impairment and altering the expression levels of genes related to oxidative stress, ferroptosis, synaptic dysfunction, and apoptosis.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Lu Li, Jiaqi Ren, Qi Fang, Liqiang Yu, Jintao Wang
Summary: ICU-AW is a common and severe neuromuscular complication in critically ill patients. Electrophysiological examination is essential for accurate diagnosis and early prediction of the disease. This study aimed to establish and validate an ICU-AW predictive model in SIRS patients, providing a practical tool for early clinical prediction.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Ahmad Alipour, Roghayeh Mohammadi
Summary: The present study aimed to investigate the separate and combined effects of anodal transcranial direct current stimulation (tDCS) over the primary motor cortex (M1) and left dorsolateral prefrontal cortex (F3) regions on pain relief in patients with type-2 diabetes suffering from neuropathic pain (NP). The results showed that tDCS had the potential to induce pain relief in patients with type-2 diabetes suffering from NP. The mean perceived pain intensity in the posttest was lower in the M1 stimulation group than in the F3 stimulation group. However, more trials with larger sample sizes are necessary to define clinically relevant effects.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Eduardo J. Fusse, Franciele F. Scarante, Maria A. Vicente, Mariana M. Marrubia, Flavia Turcato, Davi S. Scomparin, Melissa A. Ribeiro, Maria J. Figueiredo, Tamires A. V. Brigante, Francisco S. Guimaraes, Alline C. Campos
Summary: Repeated exposure to psychosocial stress alters the endocannabinoid system and affects brain regions associated with emotional distress. Enhancing the effects of endocannabinoids through pharmacological inhibition induces an anti-stress behavioral effect, possibly mediated by the mTOR signaling pathway.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Giulia Agostoni, Luca Bischetti, Federica Repaci, Margherita Bechi, Marco Spangaro, Irene Ceccato, Elena Cavallini, Luca Fiorentino, Francesca Martini, Jacopo Sapienza, Mariachiara Buonocore, Michele Francesco D'Incalci, Federica Cocchi, Carmelo Guglielmino, Roberto Cavallaro, Marta Bosia, Valentina Bambini
Summary: This study found a general impairment in humor comprehension in individuals with schizophrenia, with mental jokes being more difficult for both patients and controls. Humor comprehension was closely associated with the patients' overall pragmatic and linguistic profile, while the association with Theory of Mind (ToM) was minimal. Another notable finding was the increased appreciation of humor in individuals with schizophrenia, who rated jokes as funnier than controls did, regardless of whether they were correctly or incorrectly completed. The funniness ratings were not predicted by any measure, suggesting a dimension of humor untied to cognition or psychopathology.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Xiuping Gong, Qi Li, Yang Liu
Summary: This study demonstrates that Sev targets CREBBP to inhibit ALG13 transcription, leading to hippocampal damage and cognitive impairment.
NEUROSCIENCE LETTERS
(2024)