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Low and high-order topological disruption of functional networks in multiple system atrophy with freezing of gait: A resting-state study Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-12 Guoguang Fan, Mengwan Zhao, Huize Pang, Xiaolu Li, Shuting Bu, Juzhou Wang, Yu Liu, Yueluan Jiang
Freezing of gait (FOG), a specific survival-threatening gait impairment, needs to be urgently explored in patients with multiple system atrophy (MSA), which is characterized by rapid progression and death within 10 years of symptom onset. The objective of this study was to explore the topological organisation of both low- and high-order functional networks in patients with MAS and FOG. Low-order functional
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Disrupted autonomic pathways in spinal cord injury: Implications for the immune regulation Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-12 Maria M. Moura, Andreia Monteiro, António J. Salgado, Nuno A. Silva, Susana Monteiro
Spinal Cord Injury (SCI) disrupts critical autonomic pathways responsible for the regulation of the immune function. Consequently, individuals with SCI often exhibit a spectrum of immune dysfunctions ranging from the development of damaging pro-inflammatory responses to severe immunosuppression. Thus, it is imperative to gain a more comprehensive understanding of the extent and mechanisms through which
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BDNF and TRiC-inspired reagent rescue cortical synaptic deficits in a mouse model of Huntington's disease Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-10 Yingli Gu, Alexander Pope, Charlene Smith, Christopher Carmona, Aaron Johnstone, Linda Shi, Xuqiao Chen, Sarai Santos, Claire Cecile Bacon-Brenes, Thomas Shoff, Korbin M. Kleczko, Judith Frydman, Leslie M. Thompson, William C. Mobley, Chengbiao Wu
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Gut-brain axis in the pathogenesis of sepsis-associated encephalopathy Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-07 Xin Wang, Xiaoyue Wen, Shiying Yuan, Jiancheng Zhang
The gut-brain axis is a bidirectional communication network linking the gut and the brain, overseeing digestive functions, emotional responses, body immunity, brain development, and overall health. Substantial research highlights a connection between disruptions of the gut-brain axis and various psychiatric and neurological conditions, including depression and Alzheimer's disease. Given the impact
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Spatio-temporal brain invasion pattern of Streptococcus pneumoniae and dynamic changes in the cellular environment in bacteremia-derived meningitis Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-06 Kristine Farmen, Miguel Tofiño-Vian, Katrin Wellfelt, Lars Olson, Federico Iovino
(the pneumococcus) is the major cause of bacterial meningitis globally, and pneumococcal meningitis is associated with increased risk of long-term neurological sequelae. These include several sensorimotor functions that are controlled by specific brain regions which, during bacterial meningitis, are damaged by a neuroinflammatory response and the deleterious action of bacterial toxins in the brain
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Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-06 Elena R. Rhymes, Rebecca L. Simkin, Ji Qu, David Villarroel-Campos, Sunaina Surana, Yao Tong, Ryan Shapiro, Robert W. Burgess, Xiang-Lei Yang, Giampietro Schiavo, James N. Sleigh
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CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-05 Emmanuelle C. Genin, Pauline Pozzo di Borgo, Thomas Lorivel, Sandrine Hugues, Mélissa Farinelli, Alessandra Mauri-Crouzet, Françoise Lespinasse, Lucas Godin, Véronique Paquis-Flucklinger, Agnès Petit-Paitel
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Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-05 Zhongyun Chen, Yu Kong, Jing Zhang, Wen-Quan Zou, Liyong Wu
To elucidate and compare the genetic, clinical, ancillary diagnostic, and pathological characteristics across different Gerstmann-Sträussler-Scheinker disease (GSS) phenotypes and explore the underlying causes of the phenotypic heterogeneities. The genetic, clinical, ancillary diagnostic, and pathological profiles of GSS patients reported in the literature were obtained and analyzed. Additionally,
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Phenotypic analysis of multielectrode array EEG biomarkers in developing and adult male Fmr1 KO mice Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-04 Carrie R. Jonak, Samantha A. Assad, Terese A. Garcia, Manbir S. Sandhu, Jeffrey A. Rumschlag, Khaleel A. Razak, Devin K. Binder
Fragile X Syndrome (FXS) is a leading known genetic cause of intellectual disability with symptoms that include increased anxiety and social and sensory processing deficits. Recent electroencephalographic (EEG) studies in humans with FXS have identified neural oscillation deficits that include increased resting state gamma power, increased amplitude of auditory evoked potentials, and reduced phase
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Aberrant dynamic functional network connectivity in progressive supranuclear palsy Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-04 Junyu Qu, Min Tian, Rui Zhu, Chengyuan Song, Yongsheng Wu, Guihua Xu, Yiming Liu, Dawei Wang
The clinical symptoms of progressive supranuclear palsy (PSP) may be mediated by aberrant dynamic functional network connectivity (dFNC). While earlier research has found altered functional network connections in PSP patients, the majority of those studies have concentrated on static functional connectivity. Nevertheless, in this study, we sought to evaluate the modifications in dynamic characteristics
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Spatial omics reveals molecular changes in focal cortical dysplasia type II Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-02 Isabeau Vermeulen, Natalia Rodriguez-Alvarez, Liesbeth François, Delphine Viot, Fariba Poosti, Eleonora Aronica, Stefanie Dedeurwaerdere, Patrick Barton, Berta Cillero-Pastor, Ron M.A. Heeren
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Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia Neurobiol. Dis. (IF 6.1) Pub Date : 2024-04-02 Gabriella Sekerková, Sumeyra Kilic, Yen-Hsin Cheng, Natalie Fredrick, Anne Osmani, Haram Kim, Puneet Opal, Marco Martina
We performed a comprehensive study of the morphological, functional, and genetic features of moonwalker (MWK) mice, a mouse model of spinocerebellar ataxia caused by a gain of function of the TRPC3 channel. These mice show numerous behavioral symptoms including tremor, altered gait, circling behavior, impaired motor coordination, impaired motor learning and decreased limb strength. Cerebellar pathology
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Progressive alterations in polysomal architecture and activation of ribosome stalling relief factors in a mouse model of Huntington's disease Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-31 Eva Martin-Solana, Irene Diaz-Lopez, Yamina Mohamedi, Ivan Ventoso, Jose-Jesus Fernandez, Maria Rosario Fernandez-Fernandez
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Auditory oddball responses in the human subthalamic nucleus and substantia nigra pars reticulata Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-30 Dallas Leavitt, Frhan I. Alanazi, Tameem M. Al-Ozzi, Melanie Cohn, Mojgan Hodaie, Suneil K. Kalia, Andres M. Lozano, Luka Milosevic, William D. Hutchison
The auditory oddball is a mainstay in research on attention, novelty, and sensory prediction. How this task engages subcortical structures like the subthalamic nucleus and substantia nigra pars reticulata is unclear. We administered an auditory OB task while recording single unit activity (35 units) and local field potentials (57 recordings) from the subthalamic nucleus and substantia nigra pars reticulata
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Corrigendum to “Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy” [Neurobiology of Disease 127 (2019) 362–373] Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-27 Sudipta Chakrabarti, Sujyoti Chandra, Avik Roy, Madhuchhanda Kundu, Kalipada Pahan
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Sex-specific vulnerabilities in human astrocytes underpin the differential impact of palmitic acid Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-27 Oscar Hidalgo-Lanussa, Janneth González Santos, George E. Barreto
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Hippocampal Pyk2 regulates specific social skills: Implications for schizophrenia Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-27 Laura López-Molina, Anna Sancho-Balsells, Omar Al-Massadi, Enrica Montalban, Jordi Alberch, Belén Arranz, Jean-Antoine Girault, Albert Giralt
Pyk2 has been shown previously to be involved in several psychological and cognitive alterations related to stress, Huntington's disease, and Alzheimer's disease. All these disorders are accompanied by different types of impairments in sociability, which has recently been linked to improper mitochondrial function. We hypothesize that Pyk2, which regulates mitochondria, could be associated with the
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Investigation of microglial diversity in a LRRK2 G2019S mouse model of Parkinson's disease Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-26 L. Iovino, J. VanderZwaag, G. Kaur, M. Khakpour, V. Giusti, M. Donadon, A. Chiavegato, L. Tenorio-Lopes, E. Greggio, M.E. Tremblay, L. Civiero
Microglia contribute to the outcomes of various pathological conditions including Parkinson's disease (PD). Microglia are heterogenous, with a variety of states recently identified in aging and neurodegenerative disease models. Here, we delved into the diversity of microglia in a preclinical PD model featuring the G2019S mutation in LRRK2, a known pathological mutation associated with PD. Specifically
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Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-26 Diana A. Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M. Cologna
Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the () gene that results in a deficiency or absence of its protein product, Fragile X Messenger Ribonucleoprotein (FMRP). In recent years, mass spectrometry (MS) – based proteomics has emerged as a powerful tool
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Impaired olfactory identification in dementia-free individuals is associated with the functional abnormality of the precuneus Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-26 Bo Xie, Simin Yang, Yitong Hao, Yining Sun, Ludi Li, Chunjie Guo, Yu Yang
Olfactory dysfunction indicates a higher risk of developing dementia. However, the potential structural and functional changes are still largely unknown. A total of 236 participants were enrolled, including 45 Alzheimer's disease (AD) individuals and 191dementia-free individuals. Detailed study methods, comprising neuropsychological assessment and olfactory identification test (University of Pennsylvania
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Corrigendum to “Curcumin attenuates cognitive impairment by enhancing autophagy in chemotherapy” [Neurobiology of Disease 136 (2020) 104715] Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-23 Li-Tao Yi, Shu-Qi Dong, Shuang-Shuang Wang, Min Chen, Cheng-Fu Li, Di Geng, Ji-Xiao Zhu, Qing Liu, Jie Cheng
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Parvalbumin neurons in the nucleus accumbens shell modulate seizure in temporal lobe epilepsy Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-22 Tong Jiang, Shuyu Liang, Xiaohan Zhang, Shasha Dong, HaiFang Zhu, Ying Wang, Yanping Sun
A growing number of clinical and animal studies suggest that the nucleus accumbens (NAc), especially the shell, is involved in the pathogenesis of temporal lobe epilepsy (TLE). However, the role of parvalbumin (PV) GABAergic neurons in the NAc shell involved in TLE is still unclear. In this study, we induced a spontaneous TLE model by intrahippocampal administration of kainic acid (KA), which generally
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Deciphering the shift from benign to active relapsing-remitting multiple sclerosis: Insights into T regulatory cell dysfunction and apoptosis regulation Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-21 Anat Achiron, Rina Falb, Shay Menascu, David Magalashvili, Mathilda Mandel, Polina Sonis, Michael Gurevich
Relapsing-remitting multiple sclerosis (RRMS), a common demyelinating disease among young adults, follows a benign course in 10–15% of cases, where patients experience minimal neurological disability for a decade following disease onset. However, there is potential for these benign cases to transition into a clinically active, relapsing state. To elucidate the biological mechanisms underlying the transition
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Engrailed 1 deficiency induces changes in ciliogenesis during human neuronal differentiation Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-20 Sina Hembach, Sebastian Schmidt, Tanja Orschmann, Ingo Burtscher, Heiko Lickert, Florian Giesert, Daniela Vogt Weisenhorn, Wolfgang Wurst
A key pathological feature of Parkinson’s Disease (PD) is the progressive degeneration of dopaminergic neurons (DAns) in the substantia nigra pars compacta. Considering the major role of EN1 in the development and maintenance of these DAns and the implications from En1 mouse models, it is highly interesting to study the molecular and protective effect of EN1 also in a human cellular model. Therefore
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A nonlinear meccano for Alzheimer's emergence by amyloid β-mediated glutamatergic hyperactivity Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-15 Giulio Bonifazi, Celia Luchena, Adhara Gaminde-Blasco, Carolina Ortiz-Sanz, Estibaliz Capetillo-Zarate, Carlos Matute, Elena Alberdi, Maurizio De Pittà
The pathophysiological process of Alzheimer's disease (AD) is believed to begin many years before the formal diagnosis of AD dementia. This protracted preclinical phase offers a crucial window for potential therapeutic interventions, yet its comprehensive characterization remains elusive. Accumulating evidence suggests that amyloid-β (Aβ) may mediate neuronal hyperactivity in circuit dysfunction in
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Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-13 Seok Kyu Kang, Nicole A. Hawkins, Christopher H. Thompson, Erin M. Baker, Dennis M. Echevarria-Cooper, Levi Barse, Tyler Thenstedt, Conor J. Dixon, Nathan Speakes, Alfred L. George Jr, Jennifer A. Kearney
Pathogenic variants in are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment, abnormal electroencephalogram (EEG) patterns, and epilepsy with variable age of onset and severity. Additionally, there are prominent behavioral disturbances, including hyperactivity, aggression, and features of autism spectrum disorder. The most frequently
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Identification of an epilepsy-linked gut microbiota signature in a pediatric rat model of acquired epilepsy Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-13 Antonella Riva, Eray Sahin, Greta Volpedo, Andrea Petretto, Chiara Lavarello, Rossella Di Sapia, Davide Barbarossa, Nasibeh Riahi Zaniani, Ilaria Craparotta, Maria Chiara Barbera, Uğur Sezerman, Annamaria Vezzani, Pasquale Striano, Teresa Ravizza
A dysfunctional gut microbiota-brain axis is emerging as a potential pathogenic mechanism in epilepsy, particularly in pediatric forms of epilepsy. To add new insights into gut-related changes in acquired epilepsy that develops early in life, we used a multi-omics approach in a rat model with a 56% incidence of epilepsy.
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Microstructural alterations of the hypothalamus in Parkinson's disease and probable REM sleep behavior disorder Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-12 Cheng Zhou, Jia You, Xiaojun Guan, Tao Guo, Jingjing Wu, Haoting Wu, Chenqing Wu, Jingwen Chen, Jiaqi Wen, Sijia Tan, Xiaojie Duanmu, Jianmei Qin, Peiyu Huang, Baorong Zhang, Wei Cheng, Jianfeng Feng, Xiaojun Xu, Linbo Wang, Minming Zhang
Whether there is hypothalamic degeneration in Parkinson's disease (PD) and its association with clinical symptoms and pathophysiological changes remains controversial. We aimed to quantify microstructural changes in hypothalamus using a novel deep learning-based tool in patients with PD and those with probable rapid-eye-movement sleep behavior disorder (pRBD). We further assessed whether these microstructural
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Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-12 Izarbe Aísa-Marín, Quirze Rovira, Noelia Díaz, Laura Calvo-López, Juan M. Vaquerizas, Gemma Marfany
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Insular cortex stimulation alleviates neuropathic pain through changes in the expression of collapsin response mediator protein 2 involved in synaptic plasticity Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-11 Kyeongmin Kim, Guanghai Nan, Hyeji Bak, Hee Young Kim, Junesun Kim, Myeounghoon Cha, Bae Hwan Lee
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Spinal nerve transection-induced upregulation of SAP97 via promoting membrane trafficking of GluA1-containing AMPA receptors in the dorsal horn contributes to the pathogenesis of neuropathic pain Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-09 Zongyi Liang, Liren Li, Liying Bai, Yan Gao, Yiming Qiao, Xueli Wang, Lili Yv, Ji-Tian Xu
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Cathepsin B as a key regulator of ferroptosis in microglia following intracerebral hemorrhage Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-08 Jinxin Lu, Haiying Li, Zhengquan Yu, Chang Cao, Zhongmou Xu, Lu Peng, John H. Zhang, Gang Chen
Intracerebral hemorrhage (ICH) is a subtype of stroke marked by elevated mortality and disability rates. Recently, mounting evidence suggests a significant role of ferroptosis in the pathogenesis of ICH. Through a combination of bioinformatics analysis and basic experiments, our goal is to identify the primary cell types and key molecules implicated in ferroptosis post-ICH. This aims to propel the
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Neonatal hypoxia impairs serotonin release and cognitive functions in adult mice Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-07 Karen Ka Yan Lee, Bidisha Chattopadhyaya, Antônia Samia Fernandes do Nascimento, Luc Moquin, Pedro Rosa-Neto, Bénédicte Amilhon, Graziella Di Cristo
Children who experienced moderate perinatal asphyxia (MPA) are at risk of developing long lasting subtle cognitive and behavioral deficits, including learning disabilities and emotional problems. The prefrontal cortex (PFC) regulates cognitive flexibility and emotional behavior. Neurons that release serotonin (5-HT) project to the PFC, and compounds modulating 5-HT activity influence emotion and cognition
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Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-05 Claudia Alberti, Federica Rizzo, Alessia Anastasia, Giacomo Comi, Stefania Corti, Elena Abati
Mutations in the gene encoding MFN2 have been identified as associated with Charcot–Marie–Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system. MFN2, a dynamin-like GTPase protein located on the outer mitochondrial membrane, is well-known for its involvement in mitochondrial fusion. Numerous studies have demonstrated
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Free water in gray matter linked to gut microbiota changes with decreased butyrate producers in Alzheimer's disease and mild cognitive impairment Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-05 Kazuo Yamashiro, Kaito Takabayashi, Koji Kamagata, Yuichiro Nishimoto, Yuka Togashi, Yohsuke Yamauchi, Kotaro Ogaki, Yuanzhe Li, Taku Hatano, Yumiko Motoi, Michimasa Suzuki, Koichi Miyakawa, Dai Ishikawa, Shigeki Aoki, Takao Urabe, Nobutaka Hattori
Neuroinflammation contributes to the pathology and progression of Alzheimer's disease (AD), and it can be observed even with mild cognitive impairment (MCI), a prodromal phase of AD. Free water (FW) imaging estimates the extracellular water content and has been used to study neuroinflammation across several neurological diseases including AD. Recently, the role of gut microbiota has been implicated
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Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-03 Susanne Knorr, Lisa Rauschenberger, Muthuraman Muthuraman, Rhonda McFleder, Thomas Ott, Kathrin Grundmann-Hauser, Takahiro Higuchi, Jens Volkmann, Chi Wang Ip
DYT-TOR1A (DYT1) dystonia, characterized by reduced penetrance and suspected environmental triggers, is explored using a “second hit” DYT-TOR1A rat model. We aim to investigate the biological mechanisms driving the conversion into a dystonic phenotype, focusing on the striatum's role in dystonia pathophysiology.
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T cell infiltration mediates neurodegeneration and cognitive decline in Alzheimer's disease Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-02 Junjian Zeng, Zhiqiang Liao, Hanqin Yang, Qiong Wang, Zhiyong Wu, Fuzhou Hua, Zhidong Zhou
Alzheimer's disease (AD) is a prevalent neurodegenerative disorder with pathological features of β-amyloid (Aβ) and hyperphosphorylated tau protein accumulation in the brain, often accompanied by cognitive decline. So far, our understanding of the extent and role of adaptive immune responses in AD has been quite limited. T cells, as essential members of the adaptive immune system, exhibit quantitative
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Influence of the gut microbiome on appetite-regulating neuropeptides in the hypothalamus: Insight from conventional, antibiotic-treated, and germ-free mouse models of anorexia nervosa Neurobiol. Dis. (IF 6.1) Pub Date : 2024-03-01 Radka Roubalová, Petra Procházková, Tereza Kovářová, Janet Ježková, Tomáš Hrnčíř, Helena Tlaskalová-Hogenová, Hana Papežová
Recent research highlights the profound impact of the gut microbiome on neuropsychiatric disorders, shedding light on its potential role in shaping human behavior. In this study, we investigate the role of the gut microbiome in appetite regulation using activity-based anorexia (ABA) mouse model of anorexia nervosa (AN) — a severe eating disorder with significant health consequences. ABA was induced
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Clock knockout in inhibitory neurons reduces predisposition to epilepsy and influences anxiety-like behaviors in mice Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-28 Lu Deng, Hong Jiang, Jingjing Lin, Di Xu, Ailin Qi, Qing Guo, Ping-Ping Li, Xinshi Wang, Judy S. Liu, Xiaoqin Fu, Peijun Li
Epilepsy is a brain disorder affecting up to 1 in 26 individuals. Despite its clinical importance, the molecular mechanisms of epileptogenesis are still far from clarified. Our previous study showed that disruption of in excitatory neurons alters cortical circuits and leads to generation of focal epilepsy. In this study, a mouse line with conditional gene knockout in inhibitory neurons was established
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Alteration of gut microbiota in post-stroke depression patients with Helicobacter pylori infection Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-28 Mei Sun, Han Chen, Siyu Dong, Guoxin Zhang, Xiaoying Zhou, Hong Cheng
Background: Several studies have identified an association between the gut microbiome and post-stroke depression(PSD), and () infection cause significant alterations in the composition of the gastrointestinal microbiome. However, evidence regarding the role of the infection in promoting PSD is still lacking. Here, we conducted a retrospective study to explore risk factors associated with PSD.
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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-27 Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F. Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Kay, Hector Garcia-Moreno, Paola Giunti, Magda M. Santana, Luis Pereira de Almeida, Jon Infante, Bart P. van de Warrenburg, Jeroen J. de Vries, Jennifer Faber, Thomas Klockgether, Nicolas Casadei, Jakob Admard, Ludger Schöls, Olaf Riess, European Spinocerebellar ataxia
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The free plasma amyloid Aβ1–42/Aβ1–40 ratio predicts conversion to dementia for subjects with mild cognitive impairment with performance equivalent to that of the total plasma Aβ1–42/Aβ1–40 ratio. The BALTAZAR study Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-27 S. Schraen-Maschke, A. Duhamel, J.S. Vidal, N. Ramdane, L. Vaudran, C. Dussart, L. Buée, B. Sablonnière, C. Delaby, B. Allinquant, A. Gabelle, S. Bombois, S. Lehmann, O. Hanon, on behalf of the BALTAZAR study group
Blood-based biomarkers are a non-invasive solution to predict the risk of conversion of mild cognitive impairment (MCI) to dementia. The utility of free plasma amyloid peptides (not bound to plasma proteins and/or cells) as an early indicator of conversion to dementia is still debated, as the results of studies have been contradictory. In this context, we investigated whether plasma levels of the free
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Corrigendum to “Reducing huntingtin by immunotherapy delays disease progression in a mouse model of Huntington disease” [Neurobiology of Disease, 2024 Jan:190:106376] Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-24 Stefan Bartl, Yuanyun Xie, Nalini Potluri, Ratnesh Kesineni, Katlin Hencak, Louisa Dal Cengio, Katja Balazs, Abid Oueslati, Michela Parth, Nina Salhat, Alberto Siddu, Oskar Smrzka, Francesca Cicchetti, Günther Staffler, Michael R. Hayden, Amber L. Southwell
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hnRNP R regulates mitochondrial movement and membrane potential in axons of motoneurons Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-24 Sophia Dithmar, Abdolhossein Zare, Saeede Salehi, Michael Briese, Michael Sendtner
Axonal mitochondria defects are early events in the pathogenesis of motoneuron disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis. The RNA-binding protein hnRNP R interacts with different motoneuron disease-related proteins such as SMN and TDP-43 and has important roles in axons of motoneurons, including axonal mRNA transport. However, whether hnRNP R also modulates axonal
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Structural interhemispheric connectivity defects in mouse models of BBSOAS: Insights from high spatial resolution 3D white matter tractography Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-24 Jean Christophe Deloulme, Maxime Leclercq, Olivier Deschaux, Gemma Flore, Laetitia Capellano, Chiara Tocco, Barbara Yael Braz, Michèle Studer, Hana Lahrech
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Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-24 Colette Reinhold, Susanne Knorr, Rhonda L. McFleder, Lisa Rauschenberger, Muthuraman Muthuraman, Panagiota Arampatzi, Tom Gräfenhan, Andreas Schlosser, Michael Sendtner, Jens Volkmann, Chi Wang Ip
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Suppression of presynaptic corticostriatal glutamate activity attenuates L-dopa-induced dyskinesia in 6-OHDA-lesioned Parkinson's disease mice Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-23 Yu-Ting Huang, Ya-Wen Chen, Tze-Yen Lin, Jin-Chung Chen
A common adverse effect of Parkinson's disease (PD) treatment is L-dopa-induced dyskinesia (LID). This condition results from both dopamine (DA)-dependent and DA-independent mechanisms, as glutamate inputs from corticostriatal projection neurons impact DA-responsive medium spiny neurons in the striatum to cause the dyskinetic behaviors. In this study, we explored whether suppression of presynaptic
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Role of soluble epoxide hydrolase in pain and depression comorbidity Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-21 Yuchen Bu, Siqi Yang, Di Wang, Suwan Hu, Qi Zhang, Zifeng Wu, Chun Yang
The coexistence of chronic pain and depression in clinical practice places a substantial social burden and profoundly impacts in patients. Although a clear correlation exists, the underlying mechanism of comorbidity between chronic pain and depression remains elusive. Research conducted in recent decades has uncovered that soluble epoxide hydrolase, a pivotal enzyme in the metabolism of polyunsaturated
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The potential roles of salivary biomarkers in neurodegenerative diseases Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-19 Ling-Ling Jiao, Hui-Lin Dong, Meng-Meng Liu, Peng-Lin Wu, Yi Cao, Yuan Zhang, Fu-Gao Gao, Huai-Yuan Zhu
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Transcriptomic evaluation of tau and TDP-43 synergism shows tauopathy predominance and reveals potential modulating targets Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-18 Vaishnavi S. Jadhav, Jade G. Stair, Randall J. Eck, Samuel N. Smukowski, Heather N. Currey, Laura Garcia Toscano, Joshua C. Hincks, Caitlin S. Latimer, Paul N. Valdmanis, Brian C. Kraemer, Nicole F. Liachko
Alzheimer's disease (AD), the most common aging-associated neurodegenerative dementia disorder, is defined by the presence of amyloid beta (Aβ) and tau aggregates in the brain. However, more than half of patients also exhibit aggregates of the protein TDP-43 as a secondary pathology. The presence of TDP-43 pathology in AD is associated with increased tau neuropathology and worsened clinical outcomes
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Ameliorating effects of transcutaneous auricular vagus nerve stimulation on a mouse model of constipation-predominant irritable bowel syndrome Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-16 Jie Liu, Qian Dai, Tong Qu, Jun Ma, Chaolan Lv, Haitao Wang, Yue Yu
Limited treatment options have been shown to alter the natural course of constipation-predominant irritable bowel syndrome (IBS-C). Therefore, safer and more effective approaches are urgently needed. We investigated the effects of transcutaneous auricular vagus nerve stimulation (taVNS) in a mouse model of IBS-C. In the current study, C57BL/6 mice were randomly divided into normal control, IBS-C model
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TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43 Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-15 Juan M. Godoy-Corchuelo, Zeinab Ali, Jose M. Brito Armas, Aurea B. Martins-Bach, Irene García-Toledo, Luis C. Fernández-Beltrán, Juan I. López-Carbonero, Pablo Bascuñana, Shoshana Spring, Irene Jimenez-Coca, Ramón A. Muñoz de Bustillo Alfaro, Maria J. Sánchez-Barrena, Remya R. Nair, Brian J. Nieman, Jason P. Lerch, Karla L. Miller, Hande P. Ozdinler, Elizabeth M.C. Fisher, Thomas J. Cunningham, Abraham
TDP-43 pathology is found in several neurodegenerative disorders, collectively referred to as “TDP-43 proteinopathies”. Aggregates of TDP-43 are present in the brains and spinal cords of >97% of amyotrophic lateral sclerosis (ALS), and in brains of ∼50% of frontotemporal dementia (FTD) patients. While mutations in the TDP-43 gene () are usually associated with ALS, many clinical reports have linked
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Diffusion MRI marks progressive alterations in fiber integrity in the zQ175DN mouse model of Huntington's disease Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-15 Nicholas Vidas-Guscic, Joëlle van Rijswijk, Johan Van Audekerke, Ben Jeurissen, Israel Nnah, Haiying Tang, Ignacio Muñoz-Sanjuan, Dorian Pustina, Roger Cachope, Annemie Van der Linden, Daniele Bertoglio, Marleen Verhoye
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Cognitively healthy APOE4/4 carriers show white matter impairment associated with serum NfL and amyloid-PET Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-15 Claudia Tato-Fernández, Laura L. Ekblad, Elina Pietilä, Virva Saunavaara, Semi Helin, Riitta Parkkola, Henrik Zetterberg, Kaj Blennow, Juha O. Rinne, Anniina Snellman
Except for aging, carrying the allele () is the most important risk factor for sporadic Alzheimer's disease. carriers may have reduced capacity to recycle lipids, resulting in white matter microstructural abnormalities. In this study, we evaluated whether white matter impairment measured by diffusion tensor imaging (DTI) differs between healthy individuals with a different number of alleles, and whether
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Navigating the future of retinitis pigmentosa treatments: A comprehensive analysis of therapeutic approaches in rd10 mice Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-08 Hongli Yang, Hui Zhang, Xiaorong Li
Retinitis pigmentosa (RP) is a degenerative disease, caused by genetic mutations that lead to a loss in photoreceptors. For research on RP, rd10 mice, which carry mutations in the phosphodiesterase (PDE) gene, exhibit degenerative patterns comparable to those of patients with RP, making them an ideal model for investigating potential treatments. Although numerous studies have reported the potential
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NLRP6 deficiency inhibits neuroinflammation and ameliorates brain injury in ischemic stroke by blocking NLRs inflammasomes activation through proteasomal degradation of pro-caspase-1 Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-08 Qi He, Changchang Meng, Mengjie Jia, Junyi Tan, Keli Huang, Hui Gan, Lingyu Li, Jing Zhao
Innate inflammation is crucial for ischemic stroke development. NLRP6, a nucleotide-binding and oligomerization domain-like receptors (NLRs) family member, regulates innate inflammation. Whether NLRP6 regulates neurological damage and neuroinflammation during ischemic stroke remains unclear. We report that NLRP6 is abundantly expressed in microglia and significantly upregulated in the ischemic brain
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Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-07 Sultan Aljuraysi, Mark Platt, Michela Pulix, Harish Poptani, Antonius Plagge
Mutations of the human () cause a neurodevelopmental disorder characterised by microcephaly and intellectual disability. Trappc9 constitutes a subunit specific to the intracellular membrane-associated TrappII complex. The TrappII complex interacts with Rab11 and Rab18, the latter being specifically associated with lipid droplets (LDs). Here we used non-invasive imaging to characterise knock-out (KO)
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The relationship between inflammation, impaired glymphatic system, and neurodegenerative disorders: A vicious cycle Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-07 Yu Cai, Yangqiqi Zhang, Shuo Leng, Yuanyuan Ma, Quan Jiang, Qiuting Wen, Shenghong Ju, Jiani Hu
The term “glymphatic” emerged roughly a decade ago, marking a pivotal point in neuroscience research. The glymphatic system, a glial-dependent perivascular network distributed throughout the brain, has since become a focal point of investigation. There is increasing evidence suggesting that impairment of the glymphatic system appears to be a common feature of neurodegenerative disorders, and this impairment
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Communication defects with astroglia contribute to early impairments in the motor cortex plasticity of SOD1G93A mice Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-07 Sara Costa-Pinto, Joana Gonçalves-Ribeiro, Joana Tedim-Moreira, Renato Socodato, João B. Relvas, Ana M. Sebastião, Sandra H. Vaz
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Depression-like phenotypes in mice following common bile duct ligation: Insights into the gut–liver–brain axis via the vagus nerve Neurobiol. Dis. (IF 6.1) Pub Date : 2024-02-07 Yong Yang, Akifumi Eguchi, Chisato Mori, Kenji Hashimoto
Depression frequently occurs in patients with liver cirrhosis, yet the reasons for this correlation are not fully understood. Dysbiosis of gut microbiota has been implicated in depression through the gut–brain axis via the vagus nerve. This study explored the potential role of the gut–liver–brain axis via the vagus nerve in depression-like phenotypes in mice with liver cirrhosis. These mice underwent