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Clinical and Translational Biophotonics, Translational 2022

作者： Fukuda, Masahiro Matsumura, Takayoshi Suda, Toshio Hirase, Hajime International Research Center for Medical Sciences Kumamoto University 2-2-1 Honjo Chuo-ku Kumamoto860-0811 Japan Signature Program in Neuroscience and Behavioral Disorders Duke-NUS Medical School 8 college Road Singapore169857 Singapore Division of Inflammation Research Center for Molecular Medicine Jichi Medical University 3311-1 Yakushiji Tochigi Shimotsuke329-0498 Japan Cancer Science Institute of Singapore National University of Singapore 14 Medical Drive #12-01 Singapore117599 Singapore Center for Translational Neuromedicine Faculty of Health and Life Sciences University of Copenhagen Blegdamsvej 3B Copenhagen N2200 Denmark

We have developed depth-targeted Photothrombosis (DTPT) technique that can target a single vessel in the cortical parenchyma by two-photon excitation. Rose Bengal-mediated DTPT could be induced at 720 nm scanning with... 详细信息

ISBN: (纸本)9781557528209

关键词： Photons

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Studying neurological disorders using induced pluripotent stem cells and optogenetics

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Neural Regeneration research 2015年第11期10卷 1720-1722页

作者： Eunice W.M.Chin Eyleen L.K.Goh Program in Neuroscience and Behavioral Disorders Duke-NUS Graduate Medical School Singapore NUS Graduate School for Integrative Singapore Sciences and Engineering National University of Singapore Department of Physiology Yong Loo Lin School of Medicine National University of Singapore KK Research Center KK Women’s and Children’s HospitalSingapore

Neurological disorders are amongst the most widely studied human ***,they are also one of the most poorly *** most of these disorders are polygenic,genotype still plays an important role in their *** example,in schizophrenia and autism spectrum disorders,there is a 40-60%concordance rate in monozygotic twins,with 60-90%heritability（Burmeister et al.,2008）.However,the mechanisms by which multiple genes and their genomic variations influence the phenotypes of the disorders remain to be understood. The complexities of the disorders are tur- ther compounded by the individual rarity of the genomic variations and their variable penetrance （Cook and Scherer, 2008）. Thus, conventional disease modeling, such as gene knockout in cells or in animals, to attain the desired disease genotype may not be the most suitable platform for tackling most neurological disorders.

关键词： PSCs cell stem Studying neurological disorders using induced pluripotent stem cells and optogenetics

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Erratum to: Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases

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Molecular neurobiology 2017年第7期54卷 5547-5549页

作者： Zhi-Dong Zhou Wuan-Ting Saw Eng-King Tan National Neuroscience Institute of Singapore 11 Jalan Tan Tock Seng Singapore 308433 Singapore. Zhidong_zhou@nni.com.sg. Signature Research Program in Neuroscience and Behavioural Disorders Duke-NUS Graduate Medical School Singapore 8 College Road Singapore 169857 Singapore. Zhidong_zhou@nni.com.sg. National Neuroscience Institute of Singapore 11 Jalan Tan Tock Seng Singapore 308433 Singapore. National Neuroscience Institute of Singapore 11 Jalan Tan Tock Seng Singapore 308433 Singapore. Tan.eng.king@sgh.com.sg. Signature Research Program in Neuroscience and Behavioural Disorders Duke-NUS Graduate Medical School Singapore 8 College Road Singapore 169857 Singapore. Tan.eng.king@sgh.com.sg. Department of Neurology Singapore General Hospital Outram Road Singapore 169608 Singapore. Tan.eng.king@sgh.com.sg.

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Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

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American Journal of Human Genetics 2025年第5期112卷 975-983页

作者： Cheerie, David Meserve, Margaret M. Beijer, Danique Kaiwar, Charu Newton, Logan Taylor Tavares, Ana Lisa Verran, Aubrie Soucy Sherrill, Emma Leonard, Stefanie Sanders, Stephan J. Blake, Emily Elkhateeb, Nour Gandhi, Aastha Liang, Nicole S.Y. Morgan, Jack T. Verwillow, Anna Verheijen, Jan Giles, Andrew Williams, Sean Chopra, Maya Croft, Laura Dafsari, Hormos Salimi Davidson, Alice E. Friedman, Jennifer Gregor, Anne Haque, Bushra Lechner, Rosan Montgomery, Kylie-Ann Ryten, Mina Schober, Emil Siegel, Gabriele Sullivan, Patricia J. Whittle, Ella F. Zardetto, Bianca Yu, Timothy W. Synofzik, Matthis Aartsma-Rus, Annemieke Costain, Gregory Lauffer, Marlen C. Program in Genetics & Genome Biology SickKids Research Institute Toronto M5G 0A4 ON Canada Department of Molecular Genetics University of Toronto Toronto M5S 1A8 ON Canada Division of Genetics and Genomics Boston Children's Hospital Boston 02115 MA United States Division of Translational Genomics of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research and Center of Neurology University of Tübingen Tübingen 72076 Germany German Center of Neurodegenerative Diseases (DZNE) Tübingen 72076 Germany Clinical Molecular Geneticist Department of Pathology and Laboratory Medicine Precision Diagnostics Laboratory Children's Hospital Colorado Aurora 80045 CO United States Genomics England London E14 5AB United Kingdom Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge Cambridgeshire CB2 0QQ United Kingdom N=1 Collaborative 7 Carole Place Somerville 02143 MA United States Institute of Developmental and Regenerative Medicine Department of Pediatrics University of Oxford Oxford OX3 7TY United Kingdom Department of Psychiatry and Behavioral Sciences UCSF Weill Institute for Neurosciences University of California San Francisco San Francisco 94158 CA United States New York Genome Center New York 10013 NY United States Department of Quantitative Health Sciences Mayo Clinic Rochester 55902 MN United States Division of Clinical & Metabolic Genetics Hospital for Sick Children Toronto M5G 1X8 ON Canada Department of Genetic Counselling Hospital for Sick Children Toronto M5G 1X8 ON Canada Dutch Center for RNA Therapeutics Department of Human Genetics Leiden University Medical Center Leiden 2333 ZA Netherlands Center for Genomic Medicine Massachusetts General Hospital 55 Fruit Street Boston 02114 MA United States Department of Pathology University of Utah School of Medicine Salt Lake City 84112 UT United States ARUP Laboratories Salt Lake City 84108 UT United States Ambry Genetics 1 E

Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies. In recent years, antisense oligonucleotides (ASOs) have shown promise as individualized genetic interventions for rare genetic diseases. However, there is currently no consensus on which disease-causing DNA variants are suitable candidates for this type of genetic therapy. The patient identification working group of the N=1 Collaborative (N1C), alongside an international group of volunteer assessors, has developed and piloted consensus guidelines for assessing the eligibility of pathogenic DNA variants for ASO treatments. We herein present the N1C VARIANT (variant assessments toward eligibility for antisense oligonucleotide treatment) guidelines, including the guiding scientific principles and our approach to consensus building. Pathogenic, disease-causing variants can be assessed for the three currently best-established ASO treatment approaches: splice correction, exon skipping, and downregulation of RNA transcripts. A genetic variant is classified as “eligible,” “likely eligible,” “unlikely eligible,” or “not eligible” in relation to the different approaches or as “unable to assess.” We also review key considerations related to assessing the upregulation of transcripts from the wild-type allele, an emerging ASO therapeutic strategy. We provide additional tools and training materials to enable clinicians and researchers to use these guidelines for their eligibility assessments. With this initial edition of our N1C VARIANT guidelines, we provide the rare genetic disease community with guidance on how to identify suitable candidates for variant-specific ASO-based therapies and the possibility of integrating such assessments into routine clinical practice. © 2025 The Authors

关键词： antisense oligonucleotides consensus guidelines individualized genetic therapies personalized medicine rare genetic diseases

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Dissecting the Thermodynamics of Branched Peptides-Lipopolysaccharide Interactions

Dissecting the Thermodynamics of Branched Peptides-Lipopolys...

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第十三届中国国际多肽大会

作者： Rajamani Lakshminarayanan Muruganandham Nandhakumar Eunice Goh Tze Leng Liu Shouping Roger W Beuerman Singapore Eye Research Institute The Academia20 College RoadDiscovery Tower Level 6Singapore 169856 Neuroscience & Behavioral Disorders Program Duke-NUS Graduate Medical School8 College RoadSingapore 169857 Singapore Eye Research InstituteThe Academia20 College RoadDiscovery Tower Level 6Singapore 169856

The outer membrane of Gram-negative bacteria is composed of an asymmetric bilayer of lipopolysaccharide(LPS)and *** presence of LPS in the outer membrane in Gram-negative pathogens provides a formidable barrier for other *** have a designed branched peptide(B2088,(RGRKVVRR)2kK,where k is a branched lysine core)that displayed excellent antibacterial activities against various Gram-negative pathogens(MIC = 1.4 – 5.5 μM).The peptide disrupts the supramolecular organization of LPS and targets the cytoplasmic *** studies showed that the two valine residues in each copy play an important role in the binding of the peptide to *** understand the role of two valine residues,we replaced the later by glycine residues(B2088_99,(RGRKVGGRR)2kK)and investigated their antimicrobial and LPS binding properties.

关键词： Isothermal Titration Calorimetry Branched Peptides Lipopolysaccharide Synergism Binding enthalpy

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Sudden unexpected death in bipolar disorder

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Journal of affective disorders 2017年 223卷 8-9页

作者： Fulvio A Scorza Rodrigo B Mansur Raphael O Cerqueira Beny Lafer Flavio Kapczinski Roger S McIntyre Elisa Brietzke Laboratory of Neuroscience Department of Neurology and Neurosurgery Federal University of São Paulo São Paulo SP Brazil. Mood Disorders Psychopharmacology Unit University Health Network Toronto ON Canada. Research Group in Molecular and Behavioral Neuroscience of Bipolar Disorder Universidade Federal de São Paulo (Unifesp) São Paulo SP Brazil. Bipolar Disorders Program (PROMAN) Institute of Psychiatry Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (USP) São Paulo SP Brazil. McMaster University Hamilton ON Canada. Mood Disorders Psychopharmacology Unit University Health Network Toronto ON Canada Brain and Cognition Research Foundation Toronto ON Canada. Research Group in Molecular and Behavioral Neuroscience of Bipolar Disorder Universidade Federal de São Paulo (Unifesp) São Paulo SP Brazil. Electronic address: elisabrietzke@***.

Highlights • Evidence indicates that patients with mental illnesses have an increased incidence of sudden death. • Individuals with BD are disproportionately more affected for risk factors for sudden death. • Individuals with BD as less aggressively treated for cardiovascular diseases. • Individuals with BD are exposed to cardiovascular side-effects of medications. • Individuals with BD may have intrinsic dysfunctions of brain-heart communication.

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Analysis of sleep spindles in children with Asperger’s syndrome

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Sleep Science 2023年第3期14卷 201-206页

作者： Rodolfo Cebreros-Paniagua Fructuoso Ayala-Guerrero Erik Leonardo Mateos-Salgado Christopher Isaac Villamar-Flores Carlos Alberto Gutiérrez-Chávez Ulises Jiménez-Correa National Autonomous University of Mexico Psychology Faculty - Mexico City - Mexico. Autonomous University of the State of Mexico Psychology Faculty - Toluca - State of Mexico - Mexico. National Autonomous University of Mexico Sleep Disorders Clinic Medicine Faculty Research Division - Mexico City - Mexico. National Autonomous University of Mexico Postgraduate Program in Behavioral Neuroscience Psychology Faculty - Mexico City - Mexico.

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Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

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American Journal of Human Genetics 2025年第5期112卷 1117-1138页

作者： Efthymiou, Stephanie Leo, Cailyn P. Deng, Chenghong Lin, Sheng-Jia Maroofian, Reza Lin, Renee Karagoz, Irem Zhang, Kejia Kaiyrzhanov, Rauan Scardamaglia, Annarita Owrang, Daniel Turchetti, Valentina Jahnke, Friederike Huang, Kevin Petree, Cassidy Derrick, Anna V. Rees, Mark I. Alvi, Javeria Raza Sultan, Tipu Li, Chumei Jacquemont, Marie-Line Tran-Mau-Them, Frederic Valenzuela-Palafoll, Maria Sidlow, Rich Yoon, Grace Morrow, Michelle M. Carere, Deanna Alexis Fleischer, Julie Gerkes, Erica H. Phornphutkul, Chanika Isidor, Bertrand Rivier-Ringenbach, Clotilde Philippe, Christophe Kurul, Semra Hiz Soydemir, Didem Kara, Bulent Sunnetci-Akkoyunlu, Deniz Bothe, Viktoria Platzer, Konrad Wieczorek, Dagmar Koch-Hogrebe, Margarete Rahner, Nils Thuresson, Ann-Charlotte Matsson, Hans Frykholm, Carina Bozdoğan, Sevcan Tuğ Bisgin, Atil Chatron, Nicolas Lesca, Gaetan Cabet, Sara Tümer, Zeynep Hjortshøj, Tina D. Rønde, Gitte Marquardt, Thorsten Reunert, Janine Afzal, Erum Zamani, Mina Azizimalamiri, Reza Galehdari, Hamid Nourbakhsh, Pardis Chamanrou, Niloofar Chung, Seo-Kyung Suri, Mohnish Benke, Paul J. Zaki, Maha S. Gleeson, Joseph G. Calame, Daniel G. Pehlivan, Davut Yilmaz, Halil I. Gezdirici, Alper Rad, Aboulfazl Abumansour, Iman Sabri Oprea, Gabriela Bereketoğlu, Muhammed Burak Banneau, Guillaume Julia, Sophie Zeighami, Jawaher Ashoori, Saeed Shariati, Gholamreza Sedaghat, Alireza Sabri, Alihossein Hamid, Mohammad Parvas, Sahere Tajudin, Tajul Arifin Abdullah, Uzma Baig, Shahid Mahmood Chung, Wendy K. Glazunova, Olga O. Sabine, Sigaudy Cheema, Huma Arshad Zifarelli, Giovanni Bauer, Peter Sidpra, Jai Mankad, Kshitij Vona, Barbara Fry, Andrew E. Varshney, Gaurav K. Houlden, Henry Fu, Dragony Department of Neuromuscular disorders UCL Queen Square Institute of Neurology London WC1N 3BG United Kingdom Department of Biology Center for RNA Biology University of Rochester Rochester NY United States Genes & Human Disease Research Program Oklahoma Medical Research Foundation Oklahoma City 73104 OK United States Institute for Auditory Neuroscience and Inner Ear Lab University Medical Center Göttingen Robert-Koch-Str. 40 Göttingen 37075 Germany Institute of Human Genetics University Medical Center Göttingen Heinrich-Düker-Weg 12 Göttingen 37073 Germany Neurology Research Group Institute of Life Science Swansea University Medical School Swansea University Swansea SA2 8PP United Kingdom Faculty of Medicine & Health Camperdown University of Sydney Sydney NSW Australia Department of Pediatric Neurology Institute of Child Health Children's Hospital Lahore 54590 Pakistan McMaster University 1280 Main St W Hamilton L8S 4L8 ON Canada Unité de Génétique Médicale et Centre de Référence Anomalies du Développement et Syndromes Malformatifs CHU de la Réunion Saint-Pierre France Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares CHU Dijon Bourgogne Dijon France INSERM UMR1231 GAD Dijon F-21000 France Department of Clinical and Molecular Genetics Vall d'Hebron University Hospital and Medicine Genetics Group Vall d'Hebron Research Institute Barcelona Spain Department of Medical Genetics and Metabolism Valley Children's Hospital Madera CA United States Hospital for Sick Children Toronto ON Canada University of Toronto Toronto ON Canada GeneDx LLC Gaithersburg 20877 MD United States Department of Pediatrics Southern Illinois University School of Medicine Springfield IL United States Department of Medical Genetics University of Groningen and University Medical Center Groningen Department of Genetics Groningen Netherlands Division of Human Genetics Department of Pediatrics Warren Alpert Medical School of Brown University Ha

The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants in tRNA-modification enzymes have been implicated in a wide range of human neurodevelopmental and neurological disorders. However, the molecular basis for many of these disorders remains unknown. Here, we describe a comprehensive cohort of 43 individuals from 31 unrelated families with bi-allelic variants in tRNA methyltransferase 1 (TRMT1). These individuals present with a neurodevelopmental disorder universally characterized by developmental delay and intellectual disability, accompanied by variable behavioral abnormalities, epilepsy, and facial dysmorphism. The identified variants include ultra-rare TRMT1 variants, comprising missense and predicted loss-of-function variants, which segregate with the observed clinical pathology. Our findings reveal that several variants lead to mis-splicing and a consequent loss of TRMT1 protein accumulation. Moreover, cells derived from individuals harboring TRMT1 variants exhibit a deficiency in tRNA modifications catalyzed by TRMT1. Molecular analysis reveals distinct regions of TRMT1 required for tRNA-modification activity and binding. Notably, depletion of Trmt1 protein in zebrafish is sufficient to induce developmental and behavioral phenotypes along with gene-expression changes associated with disrupted cell cycle, immune response, and neurodegenerative disorders. Altogether, these findings demonstrate that loss of TRMT1-catalyzed tRNA modifications leads to intellectual disability and provides insight into the molecular underpinnings of tRNA-modification deficiency caused by pathogenic TRMT1 variants. © 2025 The Authors

关键词： disease model intellectual disability neurodevelopmental disorder TRMT1 tRNA modification zebrafish

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Blood tests of brain function: Neuronal extracellular vesicles

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Biomarkers in Neuropsychiatry 2022年 7卷 100058-100058页

作者： Levine, Amir Strawn, Jeffrey R. Department of Psychiatry Columbia University and New York State Psychiatric Institute New York NY United States Anxiety Disorders Research Program College of Medicine University of Cincinnati Cincinnati OH United States Department of Psychiatry and Behavioral Neuroscience College of Medicine University of Cincinnati Cincinnati OH United States

Extracellular vesicles (EVs) are tiny (<1 µm) membrane-bound vesicles released by all tissues (including the brain) that cross the blood-brain barrier and facilitate cell-to-cell communication within and among tissues. They represent the body's “Twitter system,” rapidly disseminating packets of information throughout the brain and body. Not unlike Twitter, EVs convey short messages through their cargos (e.g., RNAs, proteins, lipids, and metabolites), which direct the molecular activity of recipient cells in both health and disease. Extracellular vesicles serve as mediators of brain function and represent a reservoir for CNS-specific biomarkers that can be sequestered from plasma to guide diagnosis and treatment, representing a new frontier in the molecular study of psychiatric illness and in the development of biomarkers. The EV field has immense potential to revolutionize diagnostic approaches in psychiatry, facilitate precision treatment, predict response, and discover much-needed novel therapeutics. © 2022

关键词： Anxiety Biomarker Depression Extracellular vesicles L1CAM

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Effectiveness of a brief behavioral intervention for insomnia (BBII) during the COVID-19 pandemic: Mexican case report

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Sleep Science 2023年第3期13卷 210-213页

作者： Horacio Balam Álvarez-García Ulises Jiménez-Correa Katie Moraes de Almondes National Autonomous University of Mexico Sleep Disorders Clinic Medicine Faculty Research Division - Mexico City - Mexico. National Autonomous University of Mexico Postgraduate program in Behavioral Neuroscience Psychology Faculty - Mexico City. Onofre Lopes University Hospital AMBSONO Sleep Clinic - Natal - Rio Grande do Norte - Brazil. Federal University of Rio Grande do Norte Department of Psicobiología and Postgraduate Program in Psicobiología - Natal - Rio Grande do Norte - Brazil.

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