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Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients:a rare occurrence?

Neural Regeneration Research 2025年第1期20卷 130-138页

作者： Ilaria Martinelli Jessica Mandrioli Andrea Ghezzi Elisabetta Zucchi Giulia Gianferrari Cecilia Simonini Francesco Cavallieri Franco Valzania department of neurosciences Azienda Ospedaliero Universitaria di ModenaModenaItaly Clinical and experimental Medicine Ph.D.Program University of Modena and Reggio EmiliaModenaItaly department of Biomedical Metabolic and Neural SciencesUniversity of Modena and Reggio EmiliaModenaItaly Neurology Unit Neuromotor&Rehabilitation DepartmentAzienda USL-IRCCS di Reggio EmiliaReggio EmiliaItaly

Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal *** the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of *** superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized *** numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this *** this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during *** multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.

关键词： amyotrophic lateral sclerosis(ALS) autonomic extramotor genotype-phenotype multisystem involvement Parkinson’s disease sensory SOD1 superoxide dismutase 1 urinary vocal cord palsy

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How dopamine tunes parvalbumin interneurons in the hippocampus:new experimental observations in Alzheimer's disease

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Neural Regeneration Research 2025年第5期20卷 1405-1406页

作者： Livia La Barbera Paraskevi Krashia Annalisa Nobili department of Medicine and Surgery UniversitàCampus Bio-Medico di RomaViaÁlvaro del PortilloRomeItaly department of experimental neurosciences IRCCS Santa Lucia FoundationVia del Fosso di FioranoRomeItaly department of Science and Technology for Sustainable Development and One Health UniversitàCampus Bio-Medico di RomaViaÁlvaro del PortilloRomeItaly

Despite decades of dedicated resea rch,Alzheimer's disease (AD) is an age-related and progressive neurodegenerative disorder for which the mechanisms of onset are sti unc *** is cha racterized by featured histological alterations including amyloid-beta (AB) plaque deposition,accumulation of neurofibrillary to ngles of hyperphosphorylated-tau,and neuronal loss,accompanied by progressive cognitive decline and behavioral changes.

关键词： Alzheimer alterations dopamine

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Breaking the final barrier in reproductive animal cloning: macaque monkeys cloned

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National Science Review 2018年第3期5卷 301-303页

作者： Hongjun Song Guo-li Ming department of Neuroscience and Mahoney Institute for neurosciences Department of Cell and Developmental Biology Institute for Regenerative Medicine University of Pennsylvania

Animal models are essential in research aiming to understand human biology and diseases,yet far too often clinical trials fail with drugs and therapeutic approaches that have been developed through,tested and built up... 详细信息

关键词： Breaking the final barrier in reproductive animal cloning macaque monkeys cloned

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Delayed treatment of secondary degeneration following acute optic nerve transection using a combination of ion channel inhibitors

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Neural Regeneration Research 2017年第2期12卷 307-316页

作者： Nathanael J.Yates Marcus K.Giacci Ryan L. O'Hare Doig Wissam Chiha Bethany E. Ashworth Jade Kenna Carole A. Bartlett Melinda Fitzgerald department of experimental and regenerative neurosciences School of Animal Biology The University of Western Australia Crawley Western Australia Australia department of experimental and regenerative neurosciences School of Anatomy Physiology and Human Biology The University of Western Australia Crawley Western Australia Australia

Studies have shown that a combined application of several ion channel inhibitors immediately after central nervous system injury can inhibit secondary degeneration. However, for clinical use, it is necessary to determine how long after injury the combined treatment of several ion channel inhibitors can be delayed and efficacy maintained. In this study, we delivered Ca^2＋ entry-inhibiting P2X7 receptor antagonist oxidized-ATP and AMPA receptor antagonist YM872 to the optic nerve injury site via an iPRECIO-@ pump immediately, 6 hours, 24 hours and 7 days after partial optic nerve transection surgery. In addition, all of the ion channel inhibitor treated rats were administered with calcium channel antagonist lomerizine hydrochloride. It is important to note that as a result of implantation of the particular pumps required for programmable delivery of therapeutics directly to the injury site, seromas occurred in a significant proportion of animals, indicating infection around the pumps in these animals. Improvements in visual function were observed only when treatment was delayed by 6 hours; phosphorylated Tau was reduced when treatment was delayed by 24 hours or 7 days. Improvements in structure of node/paranode of Ranvier and reductions in oxidative stress indicators were also only observed when treatment was delayed for 6 hours, 24 hours, or 7 days. Benefits of ion channel inhibitors were only observed with time-delayed treatment, suggesting that delayed therapy of Ca^2＋ ion channel inhibitors produces better neuroprotective effects on secondary degeneration, at least in the presence of seromas.

关键词： nerve regeneration optic nerve injury neurotrauma secondary degeneration seromas calcium channel inhibitor node of Ranvier Tau phosphorylation lipid peroxidation oxidative stress neural regeneration

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The complex contribution of the astrocyte scar

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Neural Regeneration Research 2016年第7期11卷 1052-1053页

作者： Melinda Fitzgerald department of experimental and regenerative neurosciences School of Animal BiologyThe University of Western Australia

It is tempting to assign positive or negative roles to components of neurotrauma pathology,in an effort to generate an ordered picture and design therapeutic strategies *** nature is seldom so *** principle is elegant... 详细信息

关键词： astrocyte seldom assign picture regeneration illustrated pathology accordingly fibrillary protective

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Working toward an integrated plasticity/network framework for repetitive transcranial magnetic stimulation to inform tailored treatments

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Neural Regeneration Research 2024年第7期19卷 1423-1424页

作者： Jessica Moretti Jennifer Rodger experimental and regenerative neurosciences School of Biological SciencesUniversity of Western AustraliaCrawleyWAAustralia Brain Plasticity Lab Perron Institute for Neurological and Translational ScienceNedlandsWAAustralia

Non-invasive brain stimulation techniques(NIBS),including repetitive transcranial magnetic stimulation(rTMS) and transcranial electric stim ulation(tES),are increasingly being adopted clinically for treatment of neuropsychiatric and neurological disorders,albeit with varying *** rationale behind the use of NIBS has historically been that stim ulation techniques modulate neuronal activity in the targeted region and consequently induce plasticity which can lead to therapeutic outcomes.

关键词： stimulation transcranial treatment

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Amyloid-beta pathology-induced nanoscale synaptic disruption:the case of the GABA_B-GIRK assembly

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Neural Regeneration Research 2025年第5期20卷 1409-1410页

作者： Rafael Lujan Alejandro Martín-Belmonte Sergi Ferré Francisco Ciruela Synaptic Structure Laboratory Instituto de Biomedicina de la UCLM(IB-UCLM)Departamento de Ciencias MédicasInstituto de Investigación en Salud de Castilla-La Mancha(IDISCAM)Facultad de MedicinaUniversidad Castilla-La ManchaCampus BiosanitarioC/AlmansaAlbaceteSpain Integrative Neurobiology Section National Institute on Drug AbuseIntramural Research ProgramNational Institutes of HealthBaltimoreMDUSA Pharmacology Unit Department of Pathology and Experimental TherapeuticsSchool of Medicine and Health SciencesInstitute of NeurosciencesUniversity of BarcelonaNeuropharmacology&Pain GroupNeuroscience ProgramBellvitge Institute for Biomedical ResearchL’Hospitalet de LlobregatSpain

Alzheimer's disease (AD) is characterized by an imbalance between excitatory and inhibitory brain networks,leading to aberrant homeostatic synaptic *** has progressively been recognized as syna ptopathy and syna ptic dysfunction has been identified as a key component of its pathogenesis (Schirinzi et al.,2020).Syna ptic dysfunction is believed to precede synapse loss,a primary biological correlate of cognitive decline in AD,inevita bly associated with neuronal death.

关键词： Alzheimer pathology

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Strategies to limit dysmyelination during secondary degeneration following neurotrauma

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Neural Regeneration Research 2014年第11期9卷 1096-1099页

作者： Melinda Fitzgerald experimental and regenerative neurosciences School of Animal Biology The University of Western Australia Hackett DriveCrawley WA 6009 Australia

Following trauma to the central nervous system （CNS）, cells in the lesion site die rapidly. In addition, neurons and glia be- yond the initial lesion are vulnerable. These cells can undergo delayed death due to metabolic events that follow the initial trauma, via mechanisms thought to he triggered by gluta- mate-induced excitotoxicity and Ca2＋ overload, leading to mitochondrial dysfunction, associated with increased oxida- tive stress （Camello-Almaraz et al., 2006; Peng and Jou, 2010）. The resultant death of areas of grey and white matter adjacent to the lesion site is termed secondary degeneration, and is a feature of brain and spinal cord injury （Park et al., 2004; Gi- aume et al., 2007）. Secondary degeneration contributes sub- stantially to functional loss following neurotrauma （Profyris et al., 2004; Farkas and Povlishock, 2007） and rescuing this intact, but vulnerable, tissue is considered critical to mini- mising adverse sequelae and improving long term functional outcomes after CNS trauma （Fehlings et al., 2012）. However, our understanding of many of the metabolic events thought to contribute to secondary degeneration is based largely on in vitro studies （Khodorov, 2004; Tretter et al., 2007; Peng and Jou, 2010） and there is a need to confirm the relevance of these mechanisms in vivo, as well as their structural and func- tional consequences.

关键词： Strategies to limit dysmyelination during secondary degeneration following neurotrauma NIR CML

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Autism genetics: Methodological issues and experimental design

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Science China(Life Sciences) 2015年第10期58卷 946-957页

作者： Roberto SACCO Carla LINTAS Antonio M.PERSICO department of Child Neuropsychiatry and Laboratory of Molecular Psychiatry and Neurogenetics University "Campus Bio-Medico" department of experimental neurosciences I.R.C.C.S."Fondazione Santa Lucia"

Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.

关键词： autistic disorder endophenotype genetic association genetics pervasive developmental disorders

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Neogenin-loss in neural crest cells results in persistent hyperplastic primary vitreous formation

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Journal of Molecular Cell Biology 2020年第1期12卷 17-31页

作者： Sen Lin Wei Liu Chun-Lin Chen Dong Sun Jin-Xia Hu Lei Li Jian Ye Lin Mei Wen-Cheng Xiong department of Neuroscience&regenerative Medicine and department of Neurology Augusta UniversityAugustaGA 30912USA department of Ophthalmology Daping HospitalArmy Medical Center of PLAChongqingChina department of neurosciences School of MedicineCase Western Reserve UniversityClevelandOH 44106USA

Neogenin is a transmembrane receptor critical for multiple cellular processes,including neurogenesis,astrogliogenesis,endochondral bone formation,and iron *** we present evidence that loss of neogenin contributes to pathogenesis of persistent hyperplastic primary vitreous(PHPV)formation,a genetic disorder accounting for^5% of blindness in the *** loss of neogenin in neural crest cells(as observed in Wntl-Cre;Neofff mice),but not neural stem cells(as observed in GFAP-Cre and Nestin-Cre;Neo^f/f mice),resulted in a dysregulation of neural crest cell migration or delamination,exhibiting features of PHPV-like pathology(*** retrolental mass),unclosed retinal fissure,and *** results demonstrate an unrecognized function of neogenin in preventing PHPV pathogenesis,implicating neogenin regulation of neural crest cell delamination/migration and retinal fissure formation as potential underlying mechanisms of PHPV.

关键词： neogenin PHPV ocular fissure neural crest cells

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