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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Rita Horvath, John P Kemp, Helen AL Tuppen, Gavin Hudson, Anders Oldfors, Suely KN Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, Harold M Marks, Elke Holinski-Feder, Mena Scavina, Maggie C Walter, Jorida Coku, Andrea Günther-Scholz, Paul M Smith, Robert McFarland, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W Taylor, Patrick F Chinnery, Mar Tulinius, Salvatore DiMauro
Mar 07, 2019
Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency...
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
Helen R Griffin, Angela Pyle, Emma L Blakely, Charlotte L Alston, Jennifer Duff, Gavin Hudson, Rita Horvath, Ian J Wilson, Mauro Santibanez-Koref, Robert W Taylor, Patrick F Chinnery
Mar 07, 2019
PURPOSE: Mitochondrial disorders are a common cause of inherited metabolic disease and can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic approach involves the targeted resequencing of...
The life history of 21 breast cancers.
Serena Nik-Zainal, Peter Van Loo, David C Wedge, Ludmil B Alexandrov, Christopher D Greenman, King Wai Lau, Keiran Raine, David Jones, John Marshall, Manasa Ramakrishna, Adam Shlien, Susanna L Cooke, Jonathan Hinton, Andrew Menzies, Lucy A Stebbings, Catherine Leroy, Mingming Jia, Richard Rance, Laura J Mudie, Stephen J Gamble, Philip J Stephens, Stuart McLaren, Patrick S Tarpey, Elli Papaemmanuil, Helen R Davies, Ignacio Varela, David J McBride, Graham R Bignell, Kenric Leung, Adam P Butler, Jon W Teague, Sancha Martin, Goran Jönsson, Odette Mariani, Sandrine Boyault, Penelope Miron, Aquila Fatima, Anita Langerød, Samuel AJR Aparicio, Andrew Tutt, Anieta M Sieuwerts, Åke Borg, GIlles Thomas, Anne Vincent Salomon, Andrea L Richardson, Anne-Lise Børresen-Dale, P Andrew Futreal, Michael R Stratton, Peter J Campbell, Breast Cancer Working Group of the International Cancer Genome Consortium
Aug 27, 2020
Cancer evolves dynamically as clonal expansions supersede one another driven by shifting selective pressures, mutational processes, and disrupted cancer genes. These processes mark the genome, such that a cancer's life history...
The mTOR regulated RNA-binding protein LARP1 requires PABPC1 for guided mRNA interaction.
Ewan M Smith, Nour El Houda Benbahouche, Katherine Morris, Ania Wilczynska, Sarah Gillen, Tobias Schmidt, Hedda A Meijer, Rebekah Jukes-Jones, Kelvin Cain, Carolyn Jones, Mark Stoneley, Joseph A Waldron, Cameron Bell, Bruno D Fonseca, Sarah Blagden, Anne E Willis, Martin Bushell
Feb 26, 2021
The mammalian target of rapamycin (mTOR) is a critical regulator of cell growth, integrating multiple signalling cues and pathways. Key among the downstream activities of mTOR is the control of the protein synthesis machinery....
5' Untranslated Regions Autoantigens Gene Expression Regulation Genes Reporter HeLa Cells Humans Mechanistic Target of Rapamycin Complex 1 Mechanistic Target of Rapamycin Complex 2 Mutagenesis Site-Directed Mutation Missense Naphthyridines Point Mutation Poly(A)-Binding Protein I Polyribosomes Protein Biosynthesis RNA Interference RNA Messenger RNA-Binding Proteins Recombinant Fusion Proteins Ribonucleoproteins TOR Serine-Threonine Kinases
Empirical phylogenies and species abundance distributions are consistent with preequilibrium dynamics of neutral community models with gene flow
Community characteristics reflect past ecological and evolutionary dynamics. Here, we investigate whether it is possible to obtain realistically shaped modeled communities-that is with phylogenetic trees and species abundance...
Functional Trade-Offs in Promiscuous Enzymes Cannot Be Explained by Intrinsic Mutational Robustness of the Native Activity.
Uncoupling ITIM receptor G6b-B from tyrosine phosphatases Shp1 and Shp2 disrupts murine platelet homeostasis.
Mitchell J Geer, Johanna P van Geffen, Piraveen Gopalasingam, Timo Vögtle, Christopher W Smith, Silke Heising, Marijke JE Kuijpers, Bibian ME Tullemans, Gavin E Jarvis, Johannes A Eble, Mark Jeeves, Michael Overduin, Johan WM Heemskerk, Alexandra Mazharian, Yotis A Senis
Oct 10, 2018
The immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing receptor G6b-B has emerged as a key regulator of platelet homeostasis. However, it remains unclear how it mediates its effects. Tyrosine phosphorylation of...
Animals Binding Sites Blood Platelets Homeostasis Mice Mice Inbred C57BL Mice Transgenic Models Molecular Phosphorylation Point Mutation Protein Interaction Maps Protein Tyrosine Phosphatase Non-Receptor Type 11 Protein Tyrosine Phosphatase Non-Receptor Type 6 Receptors Immunologic Signal Transduction Thrombocytopenia src Homology Domains
Deep sequencing as a probe of normal stem cell fate and preneoplasia in human epidermis.
Benjamin D Simons
Nov 24, 2015
Structural basis for a complex I mutation that blocks pathological ROS production.
Zhan Yin, Nils Burger, Duvaraka Kula-Alwar, Dunja Aksentijević, Hannah R Bridges, Hiran A Prag, Daniel N Grba, Carlo Viscomi, Andrew M James, Amin Mottahedin, Thomas Krieg, Michael P Murphy, Judy Hirst
Feb 17, 2021
Mitochondrial complex I is central to the pathological reactive oxygen species (ROS) production that underlies cardiac ischemia-reperfusion (IR) injury. ND6-P25L mice are homoplasmic for a disease-causing mtDNA point mutation...
Amino Acid Substitution Animals Cryoelectron Microscopy DNA Mitochondrial Disease Models Animal Disease Resistance Electron Transport Electron Transport Complex I Humans Isolated Heart Preparation Leucine Male Mice Mice Transgenic Mitochondria Mitochondrial Membranes Myocardial Reperfusion Injury NAD NADH Dehydrogenase Oxidation-Reduction Point Mutation Proline Reactive Oxygen Species
DNA polymerase stalling at structured DNA constrains the expansion of short tandem repeats.
BACKGROUND: Short tandem repeats (STRs) contribute significantly to de novo mutagenesis, driving phenotypic diversity and genetic disease. Although highly diverse, their repetitive sequences induce DNA polymerase slippage and...
The F-box protein Cdc4/Fbxw7 is a novel regulator of neural crest development in Xenopus laevis.
Alexandra D Almeida, Helen M Wise, Christopher J Hindley, Michael K Slevin, Rebecca S Hartley, Anna Philpott
Jun 13, 2011
BACKGROUND: The neural crest is a unique population of cells that arise in the vertebrate ectoderm at the neural plate border after which they migrate extensively throughout the embryo, giving rise to a wide range of...
Animals Blotting Western Cell Differentiation Cell Proliferation Cyclin E DNA Complementary F-Box Proteins F-Box-WD Repeat-Containing Protein 7 Gene Expression Regulation Developmental In Situ Hybridization Microinjections Neural Crest Plasmids Point Mutation Polymerase Chain Reaction Protein Isoforms RNA Messenger Sequence Deletion Ubiquitin Xenopus Proteins Xenopus laevis
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Ian J Wilson, Phillipa J Carling, Charlotte L Alston, Vasileios I Floros, Angela Pyle, Gavin Hudson, Suzanne CEH Sallevelt, Costanza Lamperti, Valerio Carelli, Laurence A Bindoff, David C Samuels, Passorn Wonnapinij, Massimo Zeviani, Robert W Taylor, Hubert JM Smeets, Rita Horvath, Patrick F Chinnery
Jan 18, 2016
A comparative analysis of whole genome sequencing of esophageal adenocarcinoma pre- and post-chemotherapy
A Noorani, J Bornschein, AG Lynch, M Secrier, A Achilleos, M Eldridge, L Bower, JMJ Weaver, J Crawte, C-A Ong, N Shannon, S MacRae, N Grehan, B Nutzinger, M O'Donovan, R Hardwick, S Tavaré, RC Fitzgerald, Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium
Jul 18, 2017
Adenocarcinoma Aged Antineoplastic Agents Cell Transformation Neoplastic Computational Biology DNA Copy Number Variations Esophageal Neoplasms esophagus Female Gene Expression Profiling Gene Expression Regulation Neoplastic Genome Human High-Throughput Nucleotide Sequencing Humans Male Middle Aged Mutation Rate Neoadjuvant Therapy Neoplasm Proteins Point Mutation Polymorphism Single Nucleotide Prospective Studies Time Factors
Two distinct β-sheet structures in Italian-mutant amyloid-beta fibrils
Ellen Hubin, Stéphanie Deroo, Gabriele Kaminksi Schierle, Clemens Kaminski, Louise Serpell, Vinod Subramaniam, Nico van Nuland, Kerensa Broersen, Vincent Raussens, Rabia Sarroukh
Feb 12, 2020
Most Alzheimer's disease (AD) cases are late-onset and characterized by the aggregation and deposition of the amyloid-beta (Aβ) peptide in extracellular plaques in the brain. However, a few rare and hereditary Aβ mutations, such...
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.
Meredith H Wilson, Sujith Rajan, Aidan Danoff, Richard J White, Monica R Hensley, Vanessa H Quinlivan, Rosario Recacha, James H Thierer, Frederick J Tan, Elisabeth M Busch-Nentwich, Lloyd Ruddock, M Mahmood Hussain, Steven A Farber
Aug 18, 2020
Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.
Giulia Maule, Antonio Casini, Claudia Montagna, Anabela S Ramalho, Kris De Boeck, Zeger Debyser, Marianne S Carlon, Gianluca Petris, Anna Cereseto
Oct 23, 2020
Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease.
Felipe Roberti Teixeira, Suzanne J Randle, Shachi P Patel, Tycho ET Mevissen, Grasilda Zenkeviciute, Tie Koide, David Komander, Heike Laman
Sep 29, 2016
Fbxo7/PARK15 Tomm20 glycogen synthase kinase mitophagy protein array ubiquitin ligases Antigens Neoplasm Cell Cycle Proteins Cell Line Tumor F-Box Proteins Fluorescent Antibody Technique Glycogen Synthase Kinase 3 beta HEK293 Cells Humans Immunoprecipitation Inhibitor of Apoptosis Proteins Membrane Transport Proteins Mitochondrial Precursor Protein Import Complex Proteins Neoplasm Proteins Parkinson Disease Point Mutation Polymorphism Single Nucleotide Receptors Cell Surface SKP Cullin F-Box Protein Ligases TNF Receptor-Associated Factor 2 Ubiquitination
A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.
Anand D Jeyasekharan, Yang Liu, Hiroyoshi Hattori, Venkat Pisupati, Asta Bjork Jonsdottir, Eeson Rajendra, MiYoung Lee, Elayanambi Sundaramoorthy, Simon Schlachter, Clemens F Kaminski, Yaara Ofir-Rosenfeld, Ko Sato, Jane Savill, Nabieh Ayoub, Ashok R Venkitaraman
Feb 13, 2020
Germline missense mutations affecting a single BRCA2 allele predispose humans to cancer. Here we identify a protein-targeting mechanism that is disrupted by the cancer-associated mutation, BRCA2(D2723H), and that controls the...
Antagonism of PP2A is an independent and conserved function of HIV-1 Vif and causes cell cycle arrest.
Sara Marelli, James C Williamson, Anna V Protasio, Adi Naamati, Edward JD Greenwood, Janet E Deane, Paul J Lehner, Nicholas J Matheson
Apr 14, 2021
The seminal description of the cellular restriction factor APOBEC3G and its antagonism by HIV-1 Vif has underpinned two decades of research on the host-virus interaction. We recently reported that HIV-1 Vif is also able to...
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