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Pulmonary endoplasmic reticulum stress-scars, smoke, and suffocation.
Protein misfolding within the endoplasmic reticulum (ER stress) can be a cause or consequence of pulmonary disease. Mutation of proteins restricted to the alveolar type II pneumocyte can lead to inherited forms of pulmonary...
The integrated stress response regulates BMP signalling through effects on translation.
Elke Malzer, Caia S Dominicus, Joseph Chambers, Jennifer Dickens, Souradip Mookerjee, Stefan Marciniak
May 24, 2018
Background: Developmental pathways must be responsive to the environment. Phosphorylation of eIF2α enables a family of stress sensing kinases to trigger the integrated stress response (ISR), which has pro-survival and...
New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.
Stefan J Marciniak, Adriana Ordóñez, Jennifer A Dickens, Joseph E Chambers, Vruti Patel, Caia S Dominicus, Elke Malzer
Jun 04, 2019
Alpha-1 antitrypsin deficiency is predominantly caused by point mutations that alter the protein's folding. These mutations fall into two broad categories: those that destabilize the protein dramatically and lead to its...
endoplasmic reticulum overload endoplasmic reticulum overload response Endoplasmic reticulum stress serpin Unfolded Protein Response Endoplasmic Reticulum Endoplasmic reticulum stress Humans Mutation NF-kappa B Signal Transduction Unfolded Protein Response alpha 1-Antitrypsin alpha 1-Antitrypsin Deficiency
Actin dynamics tune the integrated stress response by regulating eukaryotic initiation factor 2α dephosphorylation.
Joseph E Chambers, Lucy E Dalton, Hanna J Clarke, Elke Malzer, Caia S Dominicus, Vruti Patel, Greg Moorhead, David Ron, Stefan J Marciniak
May 26, 2015
CReP D. melanogaster GADD34 PPP1R15A PPP1R15B actin Biochemistry Cell Biology human integrated stress response MOUSE Actins Amino Acid Sequence Animals Conserved Sequence Depsipeptides Drosophila melanogaster Eukaryotic Initiation Factor-2 HEK293 Cells Humans Mice Molecular Sequence Data Phosphorylation Protein Binding Protein Phosphatase 1 Stress Physiological
p53 and translation attenuation regulate distinct cell cycle checkpoints during endoplasmic reticulum (ER) stress.
Sally E Thomas, Elke Malzer, Adriana Ordóñez, Lucy E Dalton, Emily FA van T Wout, Elizabeth Liniker, Damian C Crowther, David A Lomas, Stefan J Marciniak
Feb 12, 2019
Cell cycle checkpoints ensure that proliferation occurs only under permissive conditions, but their role in linking nutrient availability to cell division is incompletely understood. Protein folding within the endoplasmic...
Animals Cell Cycle Cell Line Cell Line Tumor Cell Proliferation Cell Separation Drosophila melanogaster Endoplasmic Reticulum Flow Cytometry Gene Expression Regulation Genes p53 HEK293 Cells HeLa Cells Humans Plasmids Protein Biosynthesis Protein Phosphatase 1 RNA Interference Tumor Suppressor Protein p53
The endoplasmic reticulum remains functionally connected by vesicular transport after its fragmentation in cells expressing Z-α1-antitrypsin.
Jennifer A Dickens, Adriana Ordóñez, Joseph E Chambers, Alison J Beckett, Vruti Patel, Elke Malzer, Caia S Dominicus, Jayson Bradley, Andrew A Peden, Ian A Prior, David A Lomas, Stefan J Marciniak
Nov 16, 2016
Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIB.
Benoit D Roussel, Timothy M Newton, Elke Malzer, Nikol Simecek, Imran Haq, Sally E Thomas, Marian L Burr, Paul J Lehner, Damian C Crowther, Stefan J Marciniak, David A Lomas
May 18, 2018
Mutants of neuroserpin are retained as polymers within the endoplasmic reticulum (ER) of neurones to cause the autosomal dominant dementia familial encephalopathy with neuroserpin inclusion bodies or FENIB. The cellular...
Animals Cells Cultured Cholesterol Disease Models Animal Drosophila melanogaster Endoplasmic Reticulum Epilepsies Myoclonic HeLa Cells Heredodegenerative Disorders Nervous System Humans Mice Mutant Proteins Neurons Neuropeptides Polymers Protein Unfolding Serpins Signal Transduction Ubiquitin-Conjugating Enzymes Ubiquitin-Protein Ligases Unfolded Protein Response
Mitochondrial and nuclear disease panel (Mito-aND-Panel)
Angela Abicht, Florentine Scharf, Stephanie Kleinle, Ulrike Schön, Elke Holinski-Feder, Rita Horvath, Anna Benet-Pagès, Isabel Diebold
Mar 07, 2019
BACKGROUND: The diagnosis of mitochondrial disorders is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a robust high-throughput...
NUMTs heteroplasmy detection high-throughput sequencing mitochondrial and nuclear disease panel mitochondrial disorders mtDNA-server Costs and Cost Analysis DNA Mitochondrial Genetic Testing High-Throughput Nucleotide Sequencing Humans Mitochondrial Diseases Sensitivity and Specificity Sequence Analysis DNA
Addressing the need for standardization of test methods for self-healing concrete
Tim Van Mullem, Giovanni Anglani, Marta Dudek, Hanne Vanoutrive, Girts Bumanis, Chrysoula Litina, Arkadiusz Kwiecień, Abir Al-Tabbaa, Diana Bajare, Teresa Stryszewska, Robby Caspeele, Kim Van Tittelboom, Tulliani Jean-Marc, Elke Gruyaert, Paola Antonaci, Nele De Belie
Jul 21, 2021
Development and commercialization of self-healing concrete is hampered due to a lack of standardized test methods. Six inter-laboratory testing programs are being executed by the EU COST action SARCOS, each focusing on test...
Dual-energy computed tomography in acute ischemic stroke
Stephanie Mangesius, Tanja Janjic, Ruth Steiger, Lukas Haider, Rafael Rehwald, Michael Knoflach, Gerlig Widmann, Elke Gizewski, Astrid Grams
May 20, 2021
Mitochondrial dysfunction in liver failure requiring transplantation.
Maria Lane, Veronika Boczonadi, Sahar Bachtari, Aurora Gomez-Duran, Thorsten Langer, Alexandra Griffiths, Stephanie Kleinle, Christine Dineiger, Angela Abicht, Elke Holinski-Feder, Ulrike Schara, Patrick Gerner, Rita Horvath
Mar 07, 2019
Liver failure is a heterogeneous condition which may be fatal and the primary cause is frequently unknown. We investigated mitochondrial oxidative phosphorylation in patients undergoing liver transplantation. We studied 45...
Liver Mitochondria Humans Liver Neoplasms Biliary Atresia Liver Failure Liver Cirrhosis Mitochondrial Diseases Electron Transport Complex IV DNA Mitochondrial Liver Transplantation Electron Transport Oxidative Phosphorylation Adolescent Adult Middle Aged Child Child Preschool Infant Female Male Young Adult
Parents' views about healthcare professionals having real-time remote access to their young child's diabetes data
Barbara Kimbell, David Rankin, Ruth I Hart, Janet M Allen, Charlotte K Boughton, Fiona Campbell, Elke Fröhlich-Reiterer, Sabine E Hofer, Thomas M Kapellen, Birgit Rami-Merhar, Ulrike Schierloh, Ajay Thankamony, Julia Ware, Roman Hovorka, Julia Lawton, KidsAP Consortium
May 26, 2022
Respiratory chain deficiency in nonmitochondrial disease.
Angela Pyle, Helen J Nightingale, Helen Griffin, Angela Abicht, Janbernd Kirschner, Ivo Baric, Mario Cuk, Konstantinos Douroudis, Lea Feder, Markus Kratz, Birgit Czermin, Stephanie Kleinle, Mauro Santibanez-Koref, Veronika Karcagi, Elke Holinski-Feder, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
OBJECTIVE: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. METHODS: The reported...
Plasma proteome and metabolome characterization of an experimental human thyrotoxicosis model.
Maik Pietzner, Beatrice Engelmann, Tim Kacprowski, Janine Golchert, Anna-Luise Dirk, Elke Hammer, K Alexander Iwen, Matthias Nauck, Henri Wallaschofski, Dagmar Führer, Thomas F Münte, Nele Friedrich, Uwe Völker, Georg Homuth, Georg Brabant
Nov 16, 2020
BACKGROUND: Determinations of thyrotropin (TSH) and free thyroxine (FT4) represent the gold standard in evaluation of thyroid function. To screen for novel peripheral biomarkers of thyroid function and to characterize...
Parents' experiences of using remote monitoring technology to manage type 1 diabetes in very young children during a clinical trial
Ruth I Hart, Barbara Kimbell, David Rankin, Janet M Allen, Charlotte K Boughton, Fiona Campbell, Carine de Beaufort, Elke Fröhlich-Reiterer, Julia Ware, Sabine E Hofer, Thomas M Kapellen, Birgit Rami-Merhar, Ajay Thankamony, Roman Hovorka, Julia Lawton, KidsAP Consortium
Mar 31, 2022
Closed-loop system Parents qualitative research remote monitoring sensor-augmented pump therapy type 1 diabetes young children Blood Glucose Blood Glucose Self-Monitoring Child Child Preschool Clinical Trials as Topic Diabetes mellitus Type 1 Humans Infant Insulin Insulin Infusion Systems Parents Remote Sensing Technology
Evaluation of a worldwide EQA scheme for complex clonality analysis of clinical lymphoproliferative cases demonstrates a learning effect.
Cleo Keppens, Elke Boone, Paula Gameiro, Véronique Tack, Elisabeth Moreau, Elizabeth Hodges, Paul Evans, Monika Brüggemann, Ian Carter, Dido Lenze, Maria Eugenia Sarasquete, Markus Möbs, Hongxiang Liu, Elisabeth MC Dequeker, Patricia JTA Groenen
Aug 14, 2021
Clonality analysis of immunoglobulin (IG) or T-cell receptor (TR) gene rearrangements is routine practice to assist diagnosis of lymphoid malignancies. Participation in external quality assessment (EQA) aids laboratories in...
Clonality analysis external quality assessment IG rearrangements TCR rearrangements Gene Rearrangement Genes Immunoglobulin Genes T-Cell Receptor Humans Laboratory Proficiency Testing Lymphoproliferative Disorders Molecular Diagnostic Techniques Observer Variation Polymerase Chain Reaction Predictive Value of Tests Quality Assurance Health Care Quality Control Reproducibility of Results
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, Solve-RD SNV-indel working group, Richard J Rodenburg, Marieke JH Coenen, Mirian Janssen, Dylan Henssen, Christian Gilissen, Wouter Steyaert, Ida Paramonov, Solve-RD-DITF-ITHACA, Aurélien Trimouille, Tjitske Kleefstra, Alain Verloes, Lisenka ELM Vissers
Sep 24, 2021
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
John P Kemp, Paul M Smith, Angela Pyle, Vivienne CM Neeve, Helen AL Tuppen, Ulrike Schara, Beril Talim, Haluk Topaloglu, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Robert McFarland, Patrick F Chinnery, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Robert W Taylor, Rita Horvath
Mar 07, 2019
Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial...
Assessing the efficacy, safety and utility of closed-loop insulin delivery compared with sensor-augmented pump therapy in very young children with type 1 diabetes (KidsAP02 study)
Julia Fuchs, Janet M Allen, Charlotte K Boughton, Malgorzata E Wilinska, Ajay Thankamony, Carine de Beaufort, Fiona Campbell, James Yong, Elke Froehlich-Reiterer, Julia K Mader, Sabine E Hofer, Thomas M Kapellen, Birgit Rami-Merhar, Martin Tauschmann, Korey Hood, Barbara Kimbell, Julia Lawton, Stephane Roze, Judy Sibayan, Nathan Cohen, Roman Hovorka, KidsAP Consortium
Jan 12, 2021
INTRODUCTION: Diabetes management in very young children remains challenging. Glycaemic targets are achieved at the expense of high parental diabetes management burden and frequent hypoglycaemia, impacting quality of life for...
DIABETES & ENDOCRINOLOGY general diabetes paediatric endocrinology Paediatrics Austria Blood Glucose Blood Glucose Self-Monitoring Child Child Preschool Cross-Over Studies Diabetes mellitus Type 1 Humans Hypoglycemic Agents Infant Insulin Insulin Infusion Systems Luxembourg Multicenter Studies as Topic Quality of life Randomized Controlled Trials as Topic Treatment Outcome
An arrayed genome-wide perturbation screen identifies the ribonucleoprotein Hnrnpk as rate-limiting for prion propagation.
Merve Avar, Daniel Heinzer, Alana M Thackray, Yingjun Liu, Marian Hruska-Plochan, Stefano Sellitto, Elke Schaper, Daniel P Pease, Jiang-An Yin, Asvin Kk Lakkaraju, Marc Emmenegger, Marco Losa, Andra Chincisan, Simone Hornemann, Magdalini Polymenidou, Raymond Bujdoso, Adriano Aguzzi
Oct 18, 2022
Psychological Well-Being of Parents of Very Young Children With Type 1 Diabetes – Baseline Assessment
Carine de Beaufort, Ineke M. Pit-ten Cate, Ulrike Schierloh, Nathan Cohen, Charlotte K. Boughton, Martin Tauschmann, Janet M. Allen, Katrin Nagl, Maria Fritsch, James Yong, Emily Metcalfe, Dominique Schaeffer, Muriel Fichelle, Alena G. Thiele, Daniela Abt, Kerstin Faninger, Julia K. Mader, Sonja Slegtenhorst, Nicole Ashcroft, Malgorzata E. Wilinska, Judy Sibayan, Craig Kollman, Sabine E. Hofer, Elke Fröhlich-Reiterer, Thomas M. Kapellen, Carlo L. Acerini, Fiona Campbell, Birgit Rami-Merhar, Roman Hovorka
Aug 27, 2021
Background: Type 1 diabetes in young children is a heavy parental burden. As part of pilot phase of the KIDSAP01 study, we conducted a baseline assessment in parents to study the association between hypoglycemia fear, parental...
Young Children Have Higher Variability of Insulin Requirements
Klemen Dovc, Charlotte Boughton, Martin Tauschmann, Hood Thabit, Lia Bally, Janet M Allen, Carlo L Acerini, Sabine Arnolds, Carine de Beaufort, Richard M Bergenstal, Fiona Campbell, Amy Criego, David B Dunger, Daniella Elleri, Mark L Evans, Elke Fröhlich-Reiterer, Sabine Hofer, Thomas Kapellen, Lalantha Leelarathna, Thomas R Pieber, Birgit Rami-Merhar, Viral N Shah, Judy Sibayan, Malgorzata E Wilinska, Roman Hovorka, AP@Home, and KidsAP Consortia APCam11
Apr 30, 2019
OBJECTIVE: To quantify age-related variability of insulin needs during day and night closed-loop insulin delivery. RESEARCH DESIGN AND METHODS: We retrospectively analyzed data from hybrid closed-loop studies involving young...
Adolescent Adult Age Factors Aged Blood Glucose Blood Glucose Self-Monitoring Child Child Preschool Cross-Over Studies Diabetes mellitus Type 1 Dose-Response Relationship Drug Female Humans Hypoglycemic Agents Individuality Infant Insulin Insulin Infusion Systems Male Middle Aged Multicenter Studies as Topic Randomized Controlled Trials as Topic Retrospective Studies Young Adult
Reduced burden of diabetes and improved quality of life
Gianluca Musolino, Klemen Dovc, Charlotte K Boughton, Martin Tauschmann, Janet M Allen, Katrin Nagl, Maria Fritsch, James Yong, Emily Metcalfe, Dominique Schaeffer, Muriel Fichelle, Ulrike Schierloh, Alena G Thiele, Daniela Abt, Harald Kojzar, Julia K Mader, Sonja Slegtenhorst, Nicole Ashcroft, Malgorzata E Wilinska, Judy Sibayan, Nathan Cohen, Craig Kollman, Sabine E Hofer, Elke Fröhlich-Reiterer, Thomas M Kapellen, Carlo L Acerini, Carine de Beaufort, Fiona Campbell, Birgit Rami-Merhar, Roman Hovorka, KidsAP Consortium
May 29, 2019
OBJECTIVE: To evaluate the experiences of families with very young children aged 1 to 7 years (inclusive) with type 1 diabetes using day-and-night hybrid closed-loop insulin delivery. METHODS: Parents/caregivers of 20 children...
Artificial Pancreas closed-loop insulin delivery type 1 diabetes very young children Blood Glucose Blood Glucose Self-Monitoring Caregivers Child Child Preschool Circadian Rhythm Cost of Illness Cross-Over Studies Diabetes mellitus Type 1 Family Female Humans Infant Insulin Insulin Infusion Systems Male Parents Quality of life Surveys and Questionnaires
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Vivienne CM Neeve, David C Samuels, Laurence A Bindoff, Bianca van den Bosch, Gert Van Goethem, Hubert Smeets, Anne Lombès, Claude Jardel, Michio Hirano, Salvatore DiMauro, Maaike De Vries, Jan Smeitink, Bart W Smits, Ireneus FM de Coo, Carsten Saft, Thomas Klopstock, Bianca-Cortina Keiling, Birgit Czermin, Angela Abicht, Hanns Lochmüller, Gavin Hudson, Grainne G Gorman, Doug M Turnbull, Robert W Taylor, Elke Holinski-Feder, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
Polymerase-γ (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mutations...
Adolescent Adult Age of Onset Alanine Child Cohort Studies DNA Mutational Analysis DNA Polymerase gamma DNA-Directed DNA Polymerase Diffuse Cerebral Sclerosis of Schilder Europe Family Health Female Genetic Predisposition to Disease Homozygote Humans Male Middle Aged Mitochondrial Diseases Muscle Skeletal Mutation Ophthalmoplegia Chronic Progressive External Statistics as Topic statistics Nonparametric Threonine Young Adult
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