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Results: 133
Tensor-based morphometry and stereology reveal brain pathology in the complexin1 knockout mouse.
Catherine Kielar, Stephen J Sawiak, Paloma Navarro Negredo, Desmond HY Tse, A Jennifer Morton
Mar 26, 2018
Complexins (Cplxs) are small, soluble, regulatory proteins that bind reversibly to the SNARE complex and modulate synaptic vesicle release. Cplx1 knockout mice (Cplx1(-/-)) have the earliest known onset of ataxia seen in a mouse...
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Emma L Clayton, Sarah Mizielinska, James R Edgar, Troels Tolstrup Nielsen, Sarah Marshall, Frances E Norona, Miranda Robbins, Hana Damirji, Ida E Holm, Peter Johannsen, Jørgen E Nielsen, Emmanuel A Asante, John Collinge, FReJA consortium, Adrian M Isaacs
Feb 11, 2019
Mutations in the charged multivesicular body protein 2B (CHMP2B) cause frontotemporal dementia (FTD). We report that mice which express FTD-causative mutant CHMP2B at physiological levels develop a novel lysosomal storage...
CHMP2B ESCRT FTD lysosomal storage disorder lysosome Aged Aged 80 and over Animals Brain Disease Models Animal Disease Progression Endosomal Sorting Complexes Required for Transport Female frontotemporal dementia Humans Lysosomes Male Mice Transgenic Microglia Middle Aged Mutation Nerve Tissue Proteins Neurons Protein Multimerization
Anti-collapsin response mediator protein 5 encephalitis masquerading as a low-grade brain tumour.
A 71-year-old woman presented acutely with seizures; her MRI suggested a low-grade glioma of the right temporal lobe. Over the preceding 18 months, she had developed progressive limb chorea and orofacial dyskinesia. Examination...
Brain glucose sensing, glucokinase and neural control of metabolism and islet function.
glucokinase glucose sensing glucose-stimulated insulin secretion hypoglycaemia Hypothalamus Insulin Animals Brain Diabetes mellitus Energy Metabolism Feedback Physiological Glucokinase Glucose Humans Hypoglycemia Insulin Insulin Secretion Islets of Langerhans Models Neurological Nerve Tissue Proteins Neuroglia Neurons obesity Organ Specificity
Physical and neurobehavioral determinants of reproductive onset and success.
FR Day, H Helgason, DI Chasman, LM Rose, P-R Loh, RA Scott, A Helgason, A Kong, G Masson, OT Magnusson, D Gudbjartsson, U Thorsteinsdottir, JE Buring, PM Ridker, P Sulem, K Stefansson, KK Ong, JRB Perry
Mar 15, 2016
Drosophila astrocytes cover specific territories of the CNS neuropil and are instructed to differentiate by Prospero, a key effector of Notch.
Emilie Peco, Sejal Davla, Darius Camp, Stephanie M Stacey, Matthias Landgraf, Don J van Meyel
Apr 05, 2016
Astrocyte development Astroglial map Notch Pointed Prospero Animals Astrocytes Cell Lineage Central Nervous System DNA-Binding Proteins Drosophila Proteins Drosophila melanogaster Excitatory Amino Acid Transporter 1 Excitatory Amino Acid Transporter 2 Gene Expression Regulation Developmental Nerve Tissue Proteins Neurogenesis Neuroglia Neuropil Nuclear Proteins Proto-Oncogene Proteins RNA Interference RNA Small Interfering Receptors Notch Transcription Factors
Long-term self-renewing stem cells in the adult mouse hippocampus identified by intravital imaging.
Sara Bottes, Baptiste N Jaeger, Gregor-Alexander Pilz, David J Jörg, John Darby Cole, Merit Kruse, Lachlan Harris, Vladislav I Korobeynyk, Izaskun Mallona, Fritjof Helmchen, François Guillemot, Benjamin D Simons, Sebastian Jessberger
Dec 01, 2020
Animals Basic Helix-Loop-Helix Transcription Factors Cell Lineage Female Gene Expression Profiling Hippocampus Homeodomain Proteins Intravital Microscopy Male Metallothionein 3 Mice Mice Inbred C57BL Mice Transgenic Microscopy Fluorescence Multiphoton Nerve Regeneration Nerve Tissue Proteins Neural Stem Cells Single-Cell Analysis Zinc Finger Protein GLI1
Short-term diabetic hyperglycemia suppresses celiac ganglia neurotransmission, thereby impairing sympathetically mediated glucagon responses.
Short-term hyperglycemia suppresses superior cervical ganglia neurotransmission. If this ganglionic dysfunction also occurs in the islet sympathetic pathway, sympathetically mediated glucagon responses could be impaired. Our...
WLDS celiac ganglia fos Glucagon nicotinic acetylcholine receptors Norepinephrine sympathetic nervous system Animals Diabetes mellitus Type 1 Down-Regulation Electric Stimulation Ganglia Sympathetic Ganglionic Stimulants Glucagon Hyperglycemia Islets of Langerhans Male Mutant Proteins Nerve Tissue Proteins Neurons Nicotinic Agonists Norepinephrine Proto-Oncogene Proteins c-fos Rats Sprague-Dawley Rats Transgenic Rats Wistar Receptors Nicotinic Synaptic Transmission Wallerian degeneration
Large-scale discovery of novel genetic causes of developmental disorders.
Deciphering Developmental Disorders Study
Feb 01, 2021
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a...
Adolescent Animals Carrier Proteins Child Child Preschool Chromosomal Proteins Non-Histone Chromosome Aberrations DEAD-box RNA Helicases DNA-Binding Proteins Developmental Disabilities Dynamin I Exome Female Gene Expression Regulation Developmental Genes Dominant Genome Human Guanine Nucleotide Exchange Factors Homeodomain Proteins Humans Infant Infant Newborn Male Mutation Missense Nerve Tissue Proteins Nuclear Proteins Parents Phosphoproteins Polycomb Repressive Complex 1 Protein Phosphatase 2 Protein Serine-Threonine Kinases Rare Diseases Repressor Proteins Transcription Factors Transposases United Kingdom Zebrafish
Functional Magnetic Resonance Imaging of Rats with Experimental Autoimmune Encephalomyelitis Reveals Brain Cortex Remodeling.
Stefano Tambalo, Luca Peruzzotti-Jametti, Roberta Rigolio, Silvia Fiorini, Pietro Bontempi, Giulia Mallucci, Beatrice Balzarotti, Paola Marmiroli, Andrea Sbarbati, Guido Cavaletti, Stefano Pluchino, Pasquina Marzola
Jun 19, 2015
brain plasticity cortical reorganization experimental autoimmune encephalomyelitis functional magnetic resonance imaging Multiple Sclerosis Neuroimmunology Afferent Pathways Animals Cerebral Cortex Corpus Callosum Cytokines Dendrites Disease Models Animal Electric Stimulation Encephalomyelitis Autoimmune Experimental Hindlimb Image Processing Computer-Assisted Magnetic Resonance Imaging Male Nerve Tissue Proteins Neurons Oxygen Rats
Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy
Daniela Galimberti, Giorgio G Fumagalli, Chiara Fenoglio, Sara MG Cioffi, Andrea Arighi, Maria Serpente, Barbara Borroni, Alessandro Padovani, Fabrizio Tagliavini, Mario Masellis, Maria Carmela Tartaglia, John van Swieten, Lieke Meeter, Caroline Graff, Alexandre de Mendonça, Martina Bocchetta, Jonathan D Rohrer, Elio Scarpini, Genetic FTD Initiative (GENFI)
May 14, 2018
We investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (GRN) null mutations or of the development of symptoms in asymptomatic at risk members participating in the Genetic...
biomarker brain atrophy frontotemporal dementia (FTD) Plasma levels Progranulin (GRN) Proximity marker Adult Aged Aged 80 and over Atrophy Cohort Studies Female frontotemporal dementia Genetic Association Studies Genetic Testing Gray Matter Heterozygote Humans Intercellular Signaling Peptides and Proteins Male Membrane Proteins Middle Aged Multicenter Studies as Topic Mutation Nerve Tissue Proteins Progranulins Sensitivity and Specificity Young Adult
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Lee Moir, Elena G Bochukova, Rebecca Dumbell, Gareth Banks, Rasneer S Bains, Patrick M Nolan, Cheryl Scudamore, Michelle Simon, Kimberly A Watson, Julia Keogh, Elana Henning, Audrey Hendricks, Stephen O'Rahilly, Inês Barroso, UK10K consortium, Adrienne E Sullivan, David C Bersten, Murray L Whitelaw, Susan Kirsch, Elizabeth Bentley, I Sadaf Farooqi, Roger D Cox
Jan 24, 2018
OBJECTIVE: Genetic studies in obese rodents and humans can provide novel insights into the mechanisms involved in energy homeostasis. METHODS: In this study, we genetically mapped the chromosomal region underlying the...
Energy balance Human mutation mouse model OTP obesity Oxytocin vasopressin Amino Acid Sequence Animals Anxiety Base Sequence Brain Chromosome Mapping Databases Genetic Female Gene Expression Gene Expression Regulation Developmental Genes Homeobox Homeodomain Proteins Humans Hypothalamus Male Mice Nerve Tissue Proteins Neurosecretory Systems obesity Transcription Factors Transcriptome
Nitric oxide-mediated posttranslational modifications control neurotransmitter release by modulating complexin farnesylation and enhancing its clamping ability.
Susan W Robinson, Julie-Myrtille Bourgognon, Jereme G Spiers, Carlo Breda, Susanna Campesan, Adrian Butcher, Giovanna R Mallucci, David Dinsdale, Nobuhiro Morone, Raj Mistry, Tim M Smith, Maria Guerra-Martin, RA John Challiss, Flaviano Giorgini, Joern R Steinert
Jul 18, 2018
Nitric oxide (NO) regulates neuronal function and thus is critical for tuning neuronal communication. Mechanisms by which NO modulates protein function and interaction include posttranslational modifications (PTMs) such as...
Adaptor Proteins Vesicular Transport Aldehyde Oxidoreductases Animals Brain Cyclic GMP Drosophila Proteins Drosophila melanogaster Glutamate-Cysteine Ligase Glutathione Larva Nerve Tissue Proteins Neuromuscular Junction Neurotransmitter Agents Nitric oxide Phenotype Prenylation Protein Processing Post-Translational SNARE Proteins Synaptic Transmission Synaptic Vesicles
Neuronatin deletion causes postnatal growth restriction and adult obesity in 129S2/Sv mice.
Steven J Millership, Simon J Tunster, Mathew Van de Pette, Agharul I Choudhury, Elaine E Irvine, Mark Christian, Amanda G Fisher, Rosalind M John, James Scott, Dominic J Withers
Nov 19, 2018
OBJECTIVE: Imprinted genes are crucial for the growth and development of fetal and juvenile mammals. Altered imprinted gene dosage causes a variety of human disorders, with growth and development during these crucial early...
Expression of an Activated Integrin Promotes Long-Distance Sensory Axon Regeneration in the Spinal Cord.
Menghon Cheah, Melissa R Andrews, Daniel J Chew, Elizabeth B Moloney, Joost Verhaagen, Reinhard Fässler, James W Fawcett
Sep 03, 2019
UNLABELLED: After CNS injury, axon regeneration is blocked by an inhibitory environment consisting of the highly upregulated tenascin-C and chondroitin sulfate proteoglycans (CSPGs). Tenascin-C promotes growth of axons if they...
adeno-associated virus alpha9 integrin Axon regeneration dorsal root ganglion kindlin-1 Spinal Cord Animals Axons Calcitonin Gene-Related Peptide Cells Cultured Chondroitin Sulfate Proteoglycans Disease Models Animal Female Functional Laterality Ganglia Spinal Gene Expression Regulation Integrins Nerve Regeneration Nerve Tissue Proteins Neurites Pressure Rats Rats Sprague-Dawley Spinal Cord Spinal Cord Injuries Walking
Extending the phenotype of midface toddler excoriation syndrome (MiTES)
Arun C Inamadar, Keshavmurthy Vinay, Bayanne Olabi, Nivedita Sarveswaran, Anuradha Bishnoi, Christopher G Woods, Celia Moss
Jun 17, 2019
Murine neuronatin deficiency is associated with a hypervariable food intake and bimodal obesity.
Irene Cimino, Debra Rimmington, YC Loraine Tung, Katherine Lawler, Pierre Larraufie, Richard G Kay, Samuel Virtue, Brian YH Lam, Luca Fagnocchi, Marcella Kl Ma, Vladimir Saudek, Ilona Zvetkova, Antonio Vidal-Puig, Giles SH Yeo, I Sadaf Farooqi, J Andrew Pospisilik, Fiona M Gribble, Frank Reimann, Stephen O'Rahilly, Anthony P Coll
Aug 05, 2021
Neuronatin (Nnat) has previously been reported to be part of a network of imprinted genes downstream of the chromatin regulator Trim28. Disruption of Trim28 or of members of this network, including neuronatin, results in an...
Nolz1 expression is required in dopaminergic axon guidance and striatal innervation.
Clement Soleilhavoup, Marco Travaglio, Kieran Patrick, Pedro Garção, Elangovan Boobalan, Youri Adolfs, Ruth V Spriggs, Emma Moles-Garcia, Dalbir Dhiraj, Tony Oosterveen, Sarah L Ferri, Ted Abel, Edward S Brodkin, R Jeroen Pasterkamp, Brian P Brooks, Lia Panman
Jun 19, 2021
Animals Axon guidance Axons Carbocyanines Corpus Striatum Dopaminergic Neurons Embryo Mammalian Female Fluorescent Dyes Intracellular Signaling Peptides and Proteins Intravital Microscopy Mice Knockout Microfluidic Analytical Techniques Microinjections Microscopy Confocal Nerve Net Nerve Tissue Proteins Tissue Culture Techniques
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
Elangovan Boobalan, Amy H Thompson, Ramakrishna P Alur, David M McGaughey, Lijin Dong, Grace Shih, Emile R Vieta-Ferrer, Ighovie F Onojafe, Vijay K Kalaskar, Gavin Arno, Andrew J Lotery, Bin Guan, Chelsea Bender, Omar Memon, Lauren Brinster, Clement Soleilhavoup, Lia Panman, Tudor C Badea, Andrea Minella, Antonio Jacobo Lopez, Sara M Thomasy, Ala Moshiri, Delphine Blain, Robert B Hufnagel, Tiziana Cogliati, Kapil Bharti, Brian P Brooks
Dec 08, 2022
Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.
Hannah Joyce, Louise M Burmeister, Hattie Wright, Lorraine Fleming, James AC Oliver, Cathryn Mellersh
Aug 23, 2021
PURPOSE: Three related male English Cocker Spaniels (ECS) were reported to be congenitally blind. Examination of one of these revealed complete retinal detachment. A presumptive diagnosis of retinal dysplasia (RD) was provided...
Structure of a single-chain Fv bound to the 17 N-terminal residues of huntingtin provides insights into pathogenic amyloid formation and suppression.
Erwin De Genst, Dimitri Y Chirgadze, Fabrice AC Klein, David C Butler, Dijana Matak-Vinković, Yvon Trottier, James S Huston, Anne Messer, Christopher M Dobson
May 27, 2015
Huntington's disease aggregation inhibition Amyloid prefibrillar intermediates single-chain Fv antibody Amyloid Chemical Phenomena Crystallography X-Ray Humans Huntingtin Protein Magnetic Resonance Spectroscopy Models Molecular Nerve Tissue Proteins Protein Binding Protein Multimerization Protein Structure Quaternary Single-Chain Antibodies
Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue.
Oneil G Bhalala, Artika P Nath, UK Brain Expression Consortium, Michael Inouye, Christopher R Sibley
Sep 10, 2018
Schizophrenia and the affective disorders, here comprising bipolar disorder and major depressive disorder, are psychiatric illnesses that lead to significant morbidity and mortality worldwide. Whilst understanding of their...
Complex inhibitory effects of nitric oxide on autophagy.
Sovan Sarkar, Viktor I Korolchuk, Maurizio Renna, Sara Imarisio, Angeleen Fleming, Andrea Williams, Moises Garcia-Arencibia, Claudia Rose, Shouqing Luo, Benjamin R Underwood, Guido Kroemer, Cahir J O'Kane, David C Rubinsztein
Jan 04, 2018
Autophagy, a major degradation process for long-lived and aggregate-prone proteins, affects various human processes, such as development, immunity, cancer, and neurodegeneration. Several autophagy regulators have been identified...
Animals Apoptosis Regulatory Proteins Autophagy Beclin-1 Cell Line Class III Phosphatidylinositol 3-Kinases Enzyme Inhibitors HEK293 Cells HeLa Cells Humans Huntingtin Protein Huntington Disease I-kappa B Kinase Mechanistic Target of Rapamycin Complex 1 Membrane Proteins Mice Mitogen-Activated Protein Kinase 8 Multiprotein Complexes NG-Nitroarginine Methyl Ester Nerve Tissue Proteins Nitric oxide nitric oxide synthase Nuclear Proteins Phosphorylation Protein Isoforms Proteins Proto-Oncogene Proteins c-bcl-2 Rats TOR Serine-Threonine Kinases Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins
Autoinhibition of Cnn binding to γ-TuRCs prevents ectopic microtubule nucleation and cell division defects.
Corinne A Tovey, Chisato Tsuji, Alice Egerton, Fred Bernard, Antoine Guichet, Marc de la Roche, Paul T Conduit
May 11, 2021
γ-Tubulin ring complexes (γ-TuRCs) nucleate microtubules. They are recruited to centrosomes in dividing cells via binding to N-terminal CM1 domains within γ-TuRC-tethering proteins, including Drosophila Centrosomin (Cnn)....
Animals Animals Genetically Modified Cell Cycle Proteins Cell Division Drosophila Proteins Drosophila melanogaster Female Fertility HEK293 Cells Homeodomain Proteins Humans Male Microscopy Confocal Microscopy Fluorescence Microtubule-Associated Proteins Microtubules Nerve Tissue Proteins Phosphorylation Protein Binding Protein Interaction Domains and Motifs Structure-Activity Relationship
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, Alex Stuckey, Christopher A Odhams, Susan Walker, Clark D Russell, Tomas Malinauskas, Yang Wu, Jonathan Millar, Xia Shen, Katherine S Elliott, Fiona Griffiths, Wilna Oosthuyzen, Kirstie Morrice, Sean Keating, Bo Wang, Daniel Rhodes, Lucija Klaric, Marie Zechner, Nick Parkinson, Afshan Siddiq, Peter Goddard, Sally Donovan, David Maslove, Alistair Nichol, Malcolm G Semple, Tala Zainy, Fiona Maleady-Crowe, Linda Todd, Shahla Salehi, Julian Knight, Greg Elgar, Georgia Chan, Prabhu Arumugam, Christine Patch, Augusto Rendon, David Bentley, Clare Kingsley, Jack A Kosmicki, Julie E Horowitz, Aris Baras, Goncalo R Abecasis, Manuel AR Ferreira, Anne Justice, Tooraj Mirshahi, Matthew Oetjens, Daniel J Rader, Marylyn D Ritchie, Anurag Verma, Tom A Fowler, Manu Shankar-Hari, Charlotte Summers, Charles Hinds, Peter Horby, Lowell Ling, Danny McAuley, Hugh Montgomery, Peter JM Openshaw, Paul Elliott, Timothy Walsh, Albert Tenesa, GenOMICC Investigators, 23andMe Investigators, COVID-19 Human Genetics Initiative, Angie Fawkes, Lee Murphy, Kathy Rowan, Chris P Ponting, Veronique Vitart, James F Wilson, Jian Yang, Andrew D Bretherick, Richard H Scott, Sara Clohisey Hendry, Loukas Moutsianas, Andy Law, Mark J Caulfield, J Kenneth Baillie
Jul 07, 2022
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2-4 after infection with SARS-CoV-2. The GenOMICC...
ATP-Binding Cassette Transporters covid-19 Cell Adhesion Molecules Critical Care Critical Illness E-Selectin Factor VIII Fucosyltransferases Genome Human Genome-Wide Association Study Host-Pathogen Interactions Humans Interleukin-10 Receptor beta Subunit Lectins C-Type Mucin-1 Nerve Tissue Proteins Phospholipid Transfer Proteins Receptors Cell Surface Repressor Proteins SARS-CoV-2 whole genome sequencing
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