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Results: 31
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot, Martin Catala, Patrick Yu-Wai-Man, Véronique Paquis-Flucklinger
Jun 28, 2018
Wolfram syndrome (WS) is a progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications....
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David G Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N'Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger
Mar 18, 2019
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a...
CHCHD10 FTD-ALS mitochondrial DNA instability mitochondrial disorder Age of Onset Aged Alleles Amyotrophic Lateral Sclerosis DNA Mitochondrial Exome Female frontotemporal dementia HeLa Cells Humans Male Middle Aged Mitochondria Mitochondrial Diseases Mitochondrial Proteins Mutation Missense Pedigree Phenotype
Enhancer-Promoter Communication
Cis-regulatory elements such as enhancers can be located even a million base pairs away from their cognate promoter and yet modulate gene transcription. Indeed, the 3D organisation of chromatin enables the establishment of...
Program for the Stage Production In Their Own Words: Four Dramatic Works
ProTheatre Club
Jan 01, 0001
This five-page program details the ProTheatre of Ursinus College's production of "In Their Own Words", held November 12 to 13, 1992, in the Ritter Center. It includes cast, production crew and author information for four...
Dinner Time After Annabelle Sunday Moon The Robin Thomas Theories David Van Benthuysen Robert Shuman Sonja Regelman Kimberly Brophy Alan McCabe ProTheatre Ursinus College theater program Ritter Center Theatre and Performance Studies Theatre History
Published by: Ursinus College
Reframing How Physical Activity Reduces The Incidence of Clinically-Diagnosed Cancers
Undertaking a high volume of physical activity is associated with reduced risk of a broad range of clinically diagnosed cancers. These findings, which imply that physical activity induces physiological changes that avert or...
Reframing How Physical Activity Reduces The Incidence of Clinically-Diagnosed Cancers
Undertaking a high volume of physical activity is associated with reduced risk of a broad range of clinically diagnosed cancers. These findings, which imply that physical activity induces physiological changes that avert or...
Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson's disease brain extracts in transgenic mice.
Isabelle Lavenir, Daniela Passarella, Masami Masuda-Suzukake, Annabelle Curry, Janice L Holton, Bernardino Ghetti, Michel Goedert
Sep 15, 2020
Synucleinopathies [Parkinson's disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA)] share filamentous α-synuclein assemblies in nerve cells and glial cells. We compared the abilities of brain extracts...
Assembly of α-synuclein and neurodegeneration in the central nervous system of heterozygous M83 mice following the peripheral administration of α-synuclein seeds.
Jennifer A Macdonald, John L Chen, Masami Masuda-Suzukake, Manuel Schweighauser, Zane Jaunmuktane, Thomas Warner, Janice L Holton, Annabelle Grossman, Richard Berks, Isabelle Lavenir, Michel Goedert
Nov 24, 2021
Peripheral administration (oral, intranasal, intraperitoneal, intravenous) of assembled A53T α-synuclein induced synucleinopathy in heterozygous mice transgenic for human mutant A53T α-synuclein (line M83). The same was the case...
Assembly of α-synuclein and neurodegeneration in the central nervous system of heterozygous M83 mice following the peripheral administration of α-synuclein seeds
Jennifer A. Macdonald, John L. Chen, Masami Masuda-Suzukake, Manuel Schweighauser, Zane Jaunmuktane, Thomas Warner, Janice L. Holton, Annabelle Grossman, Richard Berks, Isabelle Lavenir, Michel Goedert
Dec 22, 2021
Abstract: Peripheral administration (oral, intranasal, intraperitoneal, intravenous) of assembled A53T α-synuclein induced synucleinopathy in heterozygous mice transgenic for human mutant A53T α-synuclein (line M83). The same...
Randomised controlled trial of a complex intervention by primary care nurses to increase walking in patients aged 60-74 years
Tess Harris, Sally Kerry, Christina Victor, Ulf Ekelund, Alison Woodcock, Steve Iliffe, Peter Whincup, Carole Beighton, Michael Ussher, Lee David, Debbie Brewin, Fredrika Adams, Annabelle Rogers, Derek Cook
Jan 13, 2013
Aged Feasibility Studies Female Follow-Up Studies Guidelines as Topic Health Promotion Humans Male Middle Aged Monitoring Ambulatory Nursing Evaluation Research Nursing Methodology Research Outcome Assessment Health Care Primary Care Nursing qualitative research Research Design Surveys and Questionnaires Time Factors United Kingdom Walking
Maternal iron status during pregnancy and respiratory and atopic outcomes in the offspring
INTRODUCTION: Limited evidence from birth cohort studies suggests that lower prenatal iron status may be a risk factor for childhood respiratory and atopic outcomes, but these observational findings may be confounded. Mendelian...
Assembly of α-synuclein and neurodegeneration in the central nervous system of heterozygous M83 mice following the peripheral administration of α-synuclein seeds.
Jennifer A Macdonald, John L Chen, Masami Masuda-Suzukake, Manuel Schweighauser, Zane Jaunmuktane, Thomas Warner, Janice L Holton, Annabelle Grossman, Richard Berks, Isabelle Lavenir, Michel Goedert
Jan 05, 2022
Peripheral administration (oral, intranasal, intraperitoneal, intravenous) of assembled A53T α-synuclein induced synucleinopathy in heterozygous mice transgenic for human mutant A53T α-synuclein (line M83). The same was the case...
Microglia Multiple System Atrophy neurodegeneration seeded assembly α-synuclein Aged Animals Animals Genetically Modified Hindlimb Humans Immunohistochemistry Male Mice Neurologic Mutants Microglia Motor Neurons MOVEMENT DISORDERS Multiple System Atrophy Mutation Neurodegenerative Diseases Neurons Paralysis ALPHA-SYNUCLEIN
Extensive NEUROG3 occupancy in the human pancreatic endocrine gene regulatory network.
Valérie Schreiber, Reuben Mercier, Sara Jiménez, Tao Ye, Emmanuel García-Sánchez, Annabelle Klein, Aline Meunier, Sabitri Ghimire, Catherine Birck, Bernard Jost, Kristian Honnens de Lichtenberg, Christian Honoré, Palle Serup, Gérard Gradwohl
Oct 19, 2021
OBJECTIVE: Mice lacking the bHLH transcription factor (TF) Neurog3 do not form pancreatic islet cells, including insulin-secreting beta cells, the absence of which leads to diabetes. In humans, homozygous mutations of NEUROG3...
Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain
Joanna J. Bury, Annabelle Chambers, Paul R. Heath, Paul G. Ince, Pamela J. Shaw, Fiona E. Matthews, Carol Brayne, Julie E. Simpson, Stephen B. Wharton
Jan 07, 2021
Abstract: Type 2 diabetes mellitus (T2D), characterised by peripheral insulin resistance, is a risk factor for dementia. In addition to its contribution to small and large vessel disease, T2D may directly damage cells of the...
Investigating the utility of saliva immunoglobulins for the detection of myeloma and using myeloma proteins to clarify partition between oral and systemic immunity
Jennifer L.J. Heaney, Sian Faustini, Lili Evans, Alec Rapson, Emily Collman, Annabelle Emery, John P. Campbell, Sally Moore, Margaret Goodall, Zaheer Afzal, Iain L. Chapple, Guy Pratt, Mark T. Drayson
Jun 30, 2022
Objectives: Myeloma is characterised by the presence of monoclonal immunoglobulin (M-protein) and the free light chain (FLC) in blood. We investigated whether these M-proteins and FLC are detectable in myeloma patients’...
Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain.
Joanna J Bury, Annabelle Chambers, Paul R Heath, Paul G Ince, Pamela J Shaw, Fiona E Matthews, Carol Brayne, Julie E Simpson, Stephen B Wharton, Cognitive Function and Ageing Study
Jan 27, 2021
Type 2 diabetes mellitus (T2D), characterised by peripheral insulin resistance, is a risk factor for dementia. In addition to its contribution to small and large vessel disease, T2D may directly damage cells of the brain...
Antiplasmodial and trypanocidal activity of violacein and deoxyviolacein produced from synthetic operons.
Elizabeth Bilsland, Tatyana A Tavella, Renata Krogh, Jamie E Stokes, Annabelle Roberts, James Ajioka, David R Spring, Adriano D Andricopulo, Fabio TM Costa, Stephen G Oliver
Sep 20, 2018
BACKGROUND: Violacein is a deep violet compound that is produced by a number of bacterial species. It is synthesized from tryptophan by a pathway that involves the sequential action of 5 different enzymes (encoded by genes vioA...
Antiparasitic Deoxyviolacein Escherichia coli Plasmodium falciparum Synthetic operon Trypanosoma cruzi Violacein Animals Antimalarials Antineoplastic Agents COS Cells Chlorocebus aethiops Escherichia coli Hep G2 Cells Humans Indole Alkaloids Indoles Metabolic Engineering Operon Plasmids Plasmodium falciparum Spiro Compounds Trypanocidal Agents Trypanosoma cruzi
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Advanced Glycation End Product Formation in Human Cerebral Cortex Increases With Alzheimer-Type Neuropathologic Changes but Is Not Independently Associated With Dementia in a Population-Derived Aging Brain Cohort.
Annabelle Chambers, Joanna J Bury, Thais Minett, Connor D Richardson, Carol Brayne, Paul G Ince, Pamela J Shaw, Claire J Garwood, Paul R Heath, Julie E Simpson, Fiona E Matthews, Stephen B Wharton
Oct 26, 2020
Diabetes mellitus is a risk factor for dementia, and nonenzymatic glycosylation of macromolecules results in formation of advanced glycation end-products (AGEs). We determined the variation in AGE formation in brains from the...
Metallothionein-I/II expression associates with the astrocyte DNA damage response and not Alzheimer-type pathology in the ageing brain
CEG Brayne, Rachel Waller, Mark Murphy, Claire J Garwood, Luke Jennings, Paul R Heath, Annabelle Chambers, Fiona E Matthews, Paul G Ince, Stephen B Wharton, Julie E Simpson
Oct 04, 2018
Oxidative stress and oxidative DNA damage are early features of mild cognitive impairment and Alzheimer’s disease (AD), occurring before the formation of classical AD neuropathology, and resulting from an imbalance between pro-...
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Gross, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
Mar 05, 2022
BACKGROUND: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal...
Investigating the utility of saliva immunoglobulins for the detection of myeloma and using myeloma proteins to clarify partition between oral and systemic immunity
Jennifer L.J. Heaney, Sian Faustini, Lili Evans, Alec Rapson, Emily Collman, Annabelle Emery, John P. Campbell, Sally Moore, Margaret Goodall, Zaheer Afzal, Iain L. Chapple, Guy Pratt, Mark T. Drayson
Jun 30, 2022
Objectives: Myeloma is characterised by the presence of monoclonal immunoglobulin (M-protein) and the free light chain (FLC) in blood. We investigated whether these M-proteins and FLC are detectable in myeloma patients’...
Generation of functional hepatocytes by forward programming with nuclear receptors.
Rute A Tomaz, Ekaterini D Zacharis, Fabian Bachinger, Annabelle Wurmser, Daniel Yamamoto, Sandra Petrus-Reurer, Carola M Morell, Dominika Dziedzicka, Brandon T Wesley, Imbisaat Geti, Charis-Patricia Segeritz, Miguel C de Brito, Mariya Chhatriwala, Daniel Ortmann, Kourosh Saeb-Parsy, Ludovic Vallier
Aug 12, 2022
Natural Biomaterials for Cardiac Tissue Engineering
Qasim A. Majid, Annabelle T. R. Fricker, David A. Gregory, Natalia Davidenko, Olivia Hernandez Cruz, Richard J. Jabbour, Thomas J. Owen, Pooja Basnett, Barbara Lukasiewicz, Molly Stevens, Serena Best, Ruth Cameron, Sanjay Sinha, Sian E. Harding, Ipsita Roy
Nov 09, 2020
Cardiovascular diseases (CVD) constitute a major fraction of the current major global diseases and lead to about 30% of the deaths, i.e., 17.9 million deaths per year. CVD include coronary artery disease (CAD), myocardial...
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