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On the role of RNA binding proteins in polyglutamine diseases:from pathogenesis to therapeutics

Neural Regeneration Research 2023年第12期18卷 2695-2696页

作者： AndréConceição Rebekah Koppenol Clévio Nóbrega Algarve Biomedical Center Research Institute(ABC-RI) FaroPortugalFaculdade de Medicina e Ciências BiomédicasUniversidade do AlgarveFaroPortugal PhD Program in Biomedical Sciences Faculdade de Medicina e Ciências BiomédicasUniversidade do AlgarveFaroPortugalCenter for Neuroscience and Cell BiologyUniversity of CoimbraPortugal

Polyglutamine(polyQ) diseases are a group of different neurodegenerative disorders characterized by an abnormal expansion of the trinucleotide cytosine-adenine-guanine(CAG)within coding regions of each disease-associa... 详细信息

关键词： diseases pathogenesis translate

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Exploring genes that control microglial heterogeneity and transition

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Neural Regeneration Research 2021年第12期16卷 2397-2398页

作者： Tomomi Okajima Fuminori Tsuruta Graduate School of Life and Environmental Sciences University of TsukubaTsukubaIbarakiJapan Master’s and Doctoral Programs in Biology Faculty of Life and Environmental SciencesUniversity of TsukubaTsukubaIbarakiJapan Master’s and Doctoral Program in Neuroscience Graduate School of Comprehensive Human SciencesUniversity of TsukubaTsukubaIbarakiJapan PhD Program in Human Biology School of Integrative and Global MajorsUniversity of TsukubaTsukubaIbarakiJapan PhD Program in Humanics School of Integrative and Global MajorsUniversity of TsukubaTsukubaIbarakiJapan

Microglia,which comprise approximately 10%of total cells in the brain,are the resident immune cells in the central nervous system and contribute to maintaining the brain homeostasis through monitoring their microenvironment(Kettenmann et al.,2011).Recent studies have reported that microglia also regulate neural circuit formation after *** functional transition in microglia has been considered to correlate with their morphological changes over time.

关键词： al. homeostasis transition

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Erythroid Differentiation Dependent Interaction of VPS13A with XK at the Plasma Membrane of K562 Cells

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Contact 2023年 6卷

作者： Amos, Chase Xu, Peng De Camilli, Pietro Departments of Neuroscience and of Cell Biology Howard Hughes Medical Institute Program in Cellular Neuroscience Neurodegeneration and Repair Yale University School of Medicine New Haven CT United States Aligning Science Across Parkinson's (ASAP) Collaborative Research Network Chevy Chase MD United States

Mutations of the bridge-like lipid transport protein VPS13A and the lipid scramblase XK result in Chorea Acanthocytosis (ChAc) and McLeod syndrome (MLS), respectively, two similar conditions involving neurodegeneration and deformed erythrocytes (acanthocytes). VPS13A binds XK, suggesting a model in which VPS13A forms a lipid transport bridge between the endoplasmic reticulum (ER) and the plasma membrane (PM), where XK resides. However, studies of VPS13A in HeLa and COS7 cells showed that this protein localizes primarily at contacts of the ER with mitochondria. Overexpression of XK in these cells redistributed VPS13A to the biosynthetic XK pool in the ER but not to PM-localized XK. Colocalization of VPS13A with XK at the PM was only observed if overexpressed XK harbored mutations that disengaged its VPS13A-binding site from an intramolecular interaction. As the acanthocytosis phenotype of ChAc and MLS suggests a role of the two proteins in cells of the erythroid lineage, we explored their localization in K562 cells, which differentiate into erythroblasts upon hemin addition. When tagged VPS13A was overexpressed in hemin-treated K562 cells, robust formation of ER–PM contacts positive for VPS13A was observed and their formation was abolished in XK KO cells. ER–PM contacts positive for VPS13A were seldom observed in undifferentiated K562 cells, despite the presence of XK in these cells at concentrations similar to those observed after differentiation. These findings reveal that the interaction of VPS13A with XK at ER–PM contacts requires a permissive state which depends upon cell type and/or functional state of the cell. © The Author(s) 2023.

关键词： contact endoplasmic reticulum lipid transfer protein membrane plasma membrane

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Hericium erinaceus extracts promote neuronal differentiation and excitability through nootropic metabolite activity

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Biomedicine and Pharmacotherapy 2025年 188卷 118204-118204页

作者： Brandalise, Federico Priori, Erica Cecilia Giammello, Francesca Venuti, MariaTeresa Ratto, Daniela Goppa, Lorenzo Locatelli, Carlo Alessandro Savino, Elena Roda, Elisa Rossi, Paola Department of Biomedical Sciences Division of Neuroscience and Clinical Pharmacology University of Cagliari Cittadella Universitaria di Monserrato Monserrato 09042 Italy Department of Biology and Biotechnology “L. Spallanzani” University of Pavia Pavia 27100 Italy PhD Program in Genetics Molecular and Cellular Biology University of Pavia Italy Department of Earth and Environmental Sciences (DSTA) University of Pavia Pavia 27100 Italy PhD Program in Earth and Environmental Sciences University of Pavia Italy Laboratory of Clinical & Experimental Toxicology Pavia Poison Centre National Toxicology Information Centre Toxicology Unit Istituti Clinici Scientifici Maugeri IRCCS Pavia Pavia 27100 Italy

This study investigates the effects of a blend of Hericium erinaceus (lion's mane mushroom) extract on the differentiation of SH-SY5Y cells, a human neuroblastoma cell line, revealing potential therapeutic implications for neuroblastoma management. Treatment with this blend induced cells differentiation towards a neuron-like profile, as evidenced by enhanced neuronal excitability and upregulation of neuronal markers, such as βIII-tubulin and synaptotagmin. Additionally, the treatment significantly reduced PCNA, a key regulator of proliferation, alongside a decrease in stemness markers, indicating a shift toward a more mature and less proliferative phenotype. These findings demonstrate the ability of Hericium erinaceus to promote neuronal differentiation and inhibit proliferation in neuroblastoma cells, highlighting its therapeutic potential for managing neuroblastoma and potentially other neurological disorders. The results suggest that Hericium erinaceus may serve as a promising candidate for the development of novel neuroregenerative therapies. © 2025

关键词： Action potential Cell proliferation Erinacines Hericenones Hericium erinaceus Neuroblastoma Neuronal differentiation Patch clamp SH-SY5Y Voltage-Gated Sodium Channel Voltage-gated sodium currents

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A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

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Genes & Diseases 2021年第1期8卷 73-78页

作者： Daniela Tavian Lorenzo Maggi Marina Mora Lucia Morandi Cinzia Bragato Sara Missaglia Laboratory of Cellular Biochemistry and Molecular Biology CRIBENSUniversita`Cattolica del Sacro Cuorepz Buonarroti 30Milan20145Italy Department of Psychology Universita`Cattolica del Sacro CuoreLargo Gemelli 1Milan20123Italy Neuromuscular Diseases and Neuroimmunology Unit Fondazione IRCCS Istituto Neurologico“Carlo Besta”MilanItaly PhD program in Neuroscience University of Milano-BicoccaVia Cadore 48Monza20900Italy

Neutral lipid storage disease with myopathy(NLSDM)is a rare autosomal recessive disorder,due to an enzymatic error of lipid *** present always with skeletal muscle myopathy and variable cardiac and hepatic *** is caused by mutations in the PNPLA2 gene,which encodes the adipose triglyceride lipase(ATGL).Here we report the molecular characterization and clinical findings of two NLSDM siblings carrying the novel c.187t1G>C homozygous PNPLA2 mutation,localized in the splice site of intron *** analyses revealed that neither aberrant PNPLA2 mRNA isoforms,nor ATGL mutated protein were detectable in patient’s ***,both patients presented early onset muscle weakness,in particular of proximal upper limb *** almost 15 years,muscle damage affected also distal upper *** is a NLSDM family,displaying a severe PNPLA2 mutation in two siblings with clinical presentation characterized by an early onset,but a slowly evolution of severe myopathy.

关键词： Cardiomyopathy Lipid metabolism Neutral lipid storage disease with myopathy PNPLA2 Splicing mutation Triglyceride lipase

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The hypothalamus for whole-body physiology:from metabolism to aging

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Protein & Cell 2022年第6期13卷 394-421页

作者： Tiemin Liu Yong Xu Chun-Xia Yi Qingchun Tong Dongsheng Cai State Key Laboratory of Genetic Engineering Department of Endocrinology and MetabolismInstitute of Metabolism and Integrative BiologyHuman Phenome Instituteand Collaborative Innovation Center for Genetics and DevelopmentZhongshan HospitalSchool of Life SciencesFudan UniversityShanghai 200438China Children’s Nutrition Research Center Department of PediatricsDepartment of Molecular and Cellular BiologyBaylor College of MedicineOne Baylor PlazaHoustonTX 77030USA Department of Endocrinology and Metabolism Amsterdam University Medical CentersAmsterdam Gastroenterology Endocrinology MetabolismUniversity of AmsterdamMeibergdreef 91105AZ AmsterdamNetherlands Brown Foundation Institute of Molecular Medicine Department of Neurobiology and AnatomyUniversity of Texas McGovern Medical SchoolGraduate Program in Neuroscience of MD Anderson UTHealth Graduate School of Biomedical SciencesHoustonTX 77030USA Department of Molecular Pharmacology Albert Einstein College of MedicineBronxNew YorkNY 10461USA

Obesity and aging are two important epidemic factors for metabolic syndrome and many other health issues,which contribute to devastating diseases such as cardiovascular diseases,stroke and *** brain plays a central role in controlling metabolic physiology in that it integrates information from other metabolic organs,sends regulatory projections and orchestrates the whole-body *** studies suggest that brain dysfunction in sensing various internal cues or processing external cues may have profound effects on metabolic and other physiological *** review highlights brain dysfunction linked to genetic mutations,sex,brain inflammation,microbiota,stress as causes for whole-body pathophysiology,arguing brain dysfunction as a root cause for the epidemic of aging and obesity-related *** also speculate key issues that need to be addressed on how to reveal relevant brain dysfunction that underlines the development of these disorders and diseases in order to develop new treatment strategies against these health problems.

关键词： neuron metabolism hypothalamus obesity aging

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Preventing autosomal-dominant hearing loss in Bth mice with CRISPR/CasRx-based RNA editing

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Signal Transduction and Targeted Therapy 2022年第4期7卷 1258-1270页

作者： Ziwen Zheng Guo Li Chong Cui Fang Wang Xiaohan Wang Zhijiao Xu Huiping Guo Yuxin Chen Honghai Tang Daqi Wang Mingqian Huang Zheng-Yi Chen Xingxu Huang Huawei Li Geng-Lin Li Xiaoxiang Hu Yilai Shu ENT Institute and Department of Otorhinolaryngology Eye&ENT HospitalState Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain ScienceFudan UniversityShanghai 200031China Institutes of Biomedical Sciences Fudan UniversityShanghai 200032China NHC Key Laboratory of Hearing Medicine(Fudan University) Shanghai 200032China State Key Laboratory of Agrobiotechnology China Agricultural UniversityBeijing 100193China College of Biological Sciences China Agricultural UniversityBeijing 100193China School of Life Science and Technology Southeast UniversityNanjing 210096China Department of Otolaryngology-Head and Neck Surgery Graduate Program in Speech and Hearing Bioscience and Technology and Program in NeuroscienceHarvard Medical SchoolBostonMA 02115USA Eaton-Peabody Laboratory Massachusetts Eye and Ear InfirmaryBostonMA 02114USA School of Life Science and Technology ShanghaiTech UniversityShanghai 200031China CAS Center for Excellence in Molecular Cell Science Shanghai Institute of Biochemistry and Cell BiologyChinese Academy of SciencesUniversity of Chinese Academy of SciencesShanghai 200031China Institutes of Brain Science and the Collaborative Innovation Center for Brain Science Fudan UniversityShanghai 200031China

CRISPR/RfxCas13d(CasRx)editing system can specifically and precisely cleave single-strand RNAs,which is a promising treatment for various disorders by downregulation of related gene ***,we tested this RNA-editing approach on Beethoven(Bth)mice,an animal model for human DFNA36 due to a point mutation in *** first screened 30 sgRNAs in cell cultures and found that CasRx with sgRNA3 reduced the Tmc1^(Bth)transcript by 90.8%,and the Tmc1 wild type transcript(Tmc1^(+))by 44.3%.We then injected a newly developed AAV vector(***)based CasRx into the inner ears of neonatal Bth mice,and we found that Tmc1^(Bth)was reduced by 70.2%in 2 weeks with few off-target effects in the whole ***,we found improved hair cell survival,rescued hair bundle degeneration,and reduced mechanoelectrical transduction ***,the hearing performance,measured in both ABR and DPOAE thresholds,was improved significantly in all ages over 8 ***,therefore,have validated the CRISPR/CasRx-based RNA editing strategy in treating autosomal-dominant hearing loss,paving way for its further application in many other hereditary diseases in hearing and beyond.

关键词： CRISPR/Cas editing hearing

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Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes

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Cell Reports 2025年第4期44卷 115546页

作者： Damiani, Francesca Giuliano, Maria Grazia Cornuti, Sara Putignano, Elena Tognozzi, Andrea Suckow, Vanessa Kalscheuer, Vera M. Pizzorusso, Tommaso Tognini, Paola Laboratory of Biology BIO@SNS Scuola Normale Superiore Piazza dei Cavalieri 7 Pisa 56126 Italy Health Science Interdisciplinary Center Sant'Anna School of Advanced Studies Piazza Martiri della Libertà 33 Pisa 56127 Italy Institute of Neuroscience National Research Council Via G. Moruzzi 1 Pisa 56124 Italy PhD Program in Clinical and Translational Science University of Pisa Via Savi 10 Pisa 56126 Italy Max Planck Institute for Molecular Genetics Ihnestraße 63 Berlin 14195 Germany

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disorder often associated with gastrointestinal (GI) issues and subclinical immune dysregulation, suggesting a link to the gut microbiota. We analyze the fecal microbiota composition in two CDKL5 knockout (KO) mouse models at postnatal days (P) 25, 32 (youth), and 70 (adulthood), revealing significant microbial imbalances, particularly during juvenile stages. To investigate the role of the intestinal microbiota in CDD and assess causality, we administer antibiotics, which lead to improved visual cortical responses and reduce hyperactivity. Additionally, microglia morphology changes, indicative of altered surveillance and activation states, are reversed. Strikingly, fecal transplantation from CDKL5 KO to wild-type (WT) recipient mice successfully transfers both visual response deficits and hyperactive behavior. These findings show that gut microbiota alterations contribute to the severity of neurological symptoms in CDD, shedding light on the interplay between microbiota, microglia, and neurodevelopmental outcomes. © 2025

关键词： antibiotics CDKL5 CP: Microbiology CP: neuroscience dysbiosis fecal transplantation gut microbiota gut-brain axis microglia neurodevelopmental disorder

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srp54 promotes motor neuron development and is required for motility in zebrafish

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neuroscience 2025年 579卷 24-34页

作者： Nikaela Losievski Pooja Kamath Ashley Fox Natalie M Aloi Megan C Baird Amy Everest Thomas L Gallagher Sharon L Amacher Stephen J Kolb Department of Neurology The Ohio State University Wexner Medical Center Columbus OH USA Neuroscience Graduate Program The Ohio State University Columbus OH USA. Department of Neurology The Ohio State University Wexner Medical Center Columbus OH USA. Department of Biological Chemistry & Pharmacology The Ohio State University Wexner Medical Center Columbus OH USA. English Department PhD Program in Writing Rhetoric and Literacy The Ohio State University Columbus OH USA. Department of Molecular Genetics The Ohio State University Columbus OH USA. Department of Molecular Genetics The Ohio State University Columbus OH USA Center for RNA Biology The Ohio State University Columbus OH USA. Department of Biological Chemistry & Pharmacology The Ohio State University Wexner Medical Center Columbus OH USA Center for RNA Biology The Ohio State University Columbus OH USA Center for Muscle Health and Neuromuscular Disorders The Ohio State University and Nationwide Children's Hospital Columbus OH USA. Center for Muscle Health and Neuromuscular Disorders The Ohio State University and Nationwide Children's Hospital Columbus OH USA. Electronic address: Stephen.Kolb@osumc.edu.

The signal recognition particle (SRP) is a highly conserved ribonucleoprotein (RNP) that translocates a subset of secreted and integral membrane proteins to the endoplasmic reticulum for proper localization. The most conserved SRP protein component, SRP54, has been implicated in the molecular etiology of spinal muscular atrophy (SMA). A key feature of SMA is the selective loss of motor neurons; however, the mechanism underlying this selectivity is unknown. SMA arises from deficient levels of the ubiquitously expressed Survival of Motor Neuron (SMN) protein. SMN is proposed to assemble the SRP, and SMN deficiency in SMA may attenuate SRP function and contribute to motor neuron death in patients. Using zebrafish embryos homozygous for a srp54 nonsense mutation (srp54), we investigated the requirement of Srp54 protein in motor axon development. The first grossly distinguishable phenotype observed in srp54 embryos was reduced motility at 30 h postfertilization (hpf). Additionally, we detected reduced length and branching of caudal primary motor axons in srp54 embryos compared to srp54 and srp54 siblings at 30 hpf, suggesting that defective motor neurons may contribute to the observed immotility. We also examined additional neural, secretory, and migratory cell types at 30 hpf to assess whether motor neurons are especially vulnerable to Srp54 deficiency. Of the cell types evaluated, only the hatching gland had distinct expression pattern alterations in srp54 embryos at this developmental stage. Our findings suggest that Srp54 deficiency results in motor neuron developmental defects and support the hypothesis that SRP54 may influence motor neuron selectivity in SMA.

关键词： Central nervous system Hatching gland Neurodevelopment Signal recognition particle Spinal muscular atrophy

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Network analysis of stress response vulnerability in a mouse model of major depressive disorder

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neuroscience Applied 2024年 3卷

作者： A. Viglione C. Delli Colli F. Marsili S. Poggini T.M. Milewki K.M. Mahach V. Manzi A. Poleggi J.P. Curley I. Branchi Istituto Superiore di Sanità Center for Behavioral Sciences and Mental Health Rome Italy Sapienza University of Rome PhD program in Pharmacology and Toxicology Rome Italy University of Texas at Austin Psychology Department Austin United States Istituto Superiore di Sanità Department of Cell Biology and Neuroscience Rome Italy

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