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Results: 129
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Marisa W Friederich, Sharita Timal, Christopher A Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry GJ Derks, David Bick, Katelijne Bouman, Kathryn C Chatfield, Nadine Damouny-Naoum, Megan K Dishop, Tzipora C Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger JM Pruijn, Pedro F Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H Schoots, Jan A Smeitink, Maciej J Szukszto, Hendrik J Ter Horst, Frans van den Brandt, Francjan J van Spronsen, Joris A Veltman, Eric Wartchow, Liesbeth T Wintjes, Yaniv Zohar, Miguel A Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J Rodenburg, Johan LK Van Hove
Dec 07, 2018
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a...
Amino Acid Sequence Cardiomyopathies Female FIBROBLASTS Humans Infant Infant Newborn Lentivirus Male Mitochondrial Diseases Models Molecular Mutation Myocardium Nitrogenous Group Transferases Oxidative Phosphorylation Pedigree Protein Biosynthesis Protein Subunits RNA Transfer Saccharomyces cerevisiae
CTCF maintains regulatory homeostasis of cancer pathways.
Sarah J Aitken, Ximena Ibarra-Soria, Elissavet Kentepozidou, Paul Flicek, Christine Feig, John C Marioni, Duncan T Odom
Sep 20, 2018
CTCF Cancer Chromatin architecture chromatin state Hemizygosity Transcription Animals Breast Neoplasms CCCTC-Binding Factor Cell Line Chromatin DNA Neoplasm Enhancer Elements Genetic Female FIBROBLASTS Gene Expression Regulation Neoplastic Genome Hemizygote Homeostasis Humans Liver Neoplasms Experimental Mice Mice Inbred C57BL Mice Transgenic Protein Binding Signal Transduction Uterine Neoplasms
A ChIP-chip approach reveals a novel role for transcription factor IRF1 in the DNA damage response.
IRF1 is a transcription factor that regulates key processes in the immune system and in tumour suppression. To gain further insight into IRF1's role in these processes, we searched for new target genes by performing chromatin...
Binding Sites Cell Line Tumor Cells Cultured Chromatin Immunoprecipitation Cross-Linking Reagents DNA Damage DNA Repair DNA-Binding Proteins Fanconi Anemia Complementation Group Proteins FIBROBLASTS Gene Expression Regulation Humans Interferon Regulatory Factor-1 Interferon-gamma Melphalan Oligonucleotide Array Sequence Analysis RNA Helicases RNA Interference Regulatory Elements Transcriptional Reproducibility of Results
Gingival fibroblasts protect against experimental abdominal aortic aneurysm development and rupture through tissue inhibitor of metalloproteinase-1 production.
Andreas Giraud, Lynda Zeboudj, Marie Vandestienne, Jérémie Joffre, Bruno Esposito, Stéphane Potteaux, José Vilar, Daniela Cabuzu, Johannes Kluwe, Sylvie Seguier, Alain Tedgui, Ziad Mallat, Antoine Lafont, Hafid Ait-Oufella
Apr 09, 2019
AIMS: Abdominal aortic aneurysm (AAA), frequently diagnosed in old patients, is characterized by chronic inflammation, vascular cell apoptosis and metalloproteinase-mediated extracellular matrix destruction. Despite improvement...
abdominal aortic aneurysm Cell therapy Gingival fibroblasts Metalloproteases Remodelling Angiotensin II Animals Aorta Abdominal Aortic Aneurysm Abdominal Aortic Rupture Disease Models Animal Extracellular Matrix FIBROBLASTS Gingiva Mice Inbred C57BL Mice Knockout Protective Agents Tissue Inhibitor of Metalloproteinase-1 Transforming Growth Factor beta
Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.
Jian-Hua Chen, Kim Jee Goh, Nuno Rocha, Matthijs P Groeneveld, Marina Minic, Timothy G Barrett, David Savage, Robert K Semple
May 25, 2018
Adipose tissue is the primary tissue affected in most single gene forms of severe insulin resistance, and growing evidence has implicated it as a site at which many risk alleles for insulin resistance identified in...
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
Feb 07, 2017
Identification of stromally expressed molecules in the prostate by tag-profiling of cancer-associated fibroblasts, normal fibroblasts and fetal prostate.
The stromal microenvironment has key roles in prostate development and cancer, and cancer-associated fibroblasts (CAFs) stimulate tumourigenesis via several mechanisms including the expression of pro-tumourigenic factors....
Expression of the UL16 glycoprotein of Human Cytomegalovirus protects the virus-infected cell from attack by natural killer cells.
PICALM modulates autophagy activity and tau accumulation.
Kevin Moreau, Angeleen Fleming, Sara Imarisio, Ana Lopez Ramirez, Jacob L Mercer, Maria Jimenez-Sanchez, Carla F Bento, Claudia Puri, Eszter Zavodszky, Farah Siddiqi, Catherine P Lavau, Maureen Betton, Cahir J O'Kane, Daniel S Wechsler, David C Rubinsztein
Oct 09, 2014
Animals Autophagy Autophagy-Related Protein 12 Cell Line Drosophila Endocytosis Female FIBROBLASTS Genome-Wide Association Study HEK293 Cells HeLa Cells Humans Male Mice Monomeric Clathrin Assembly Proteins Phagosomes Protein Binding RNA Small Interfering Risk Factors Small Ubiquitin-Related Modifier Proteins Transfection Vesicle-Associated Membrane Protein 2 Zebrafish tau Proteins
Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.
Oula Knuutinen, Angela Pyle, Maria Suo-Palosaari, Jennifer Duff, Tawfiq Froukh, Anna-Elina Lehesjoki, Salla M Kangas, James Cassidy, Latifa Maraqa, Riikka Keski-Filppula, Hannaleena Kokkonen, Johanna Uusimaa, Rita Horvath, Päivi Vieira
Sep 03, 2020
TATA-box binding protein associated factor, RNA polymerase I subunit C (TAF1C) is a component of selectivity factor 1 belonging to RNA polymerase I (Pol I) transcription machinery. We report two unrelated patients with...
Pol I transcription initiation complex proteins TATA-Binding Protein Associated Factors brain atrophy infantile spasms Child Preschool Epilepsy Female FIBROBLASTS Homozygote Humans Infant Infant Newborn Magnetic Resonance Imaging Male Mutation Missense Phenotype RNA Polymerase I Spasms Infantile TATA-Binding Protein Associated Factors Transcription Factor TFIID
Genetic background drives transcriptional variation in human induced pluripotent stem cells.
Foad Rouhani, Natsuhiko Kumasaka, Miguel Cardoso de Brito, Allan Bradley, Ludovic Vallier, Daniel Gaffney
Oct 14, 2020
Human iPS cells have been generated using a diverse range of tissues from a variety of donors using different reprogramming vectors. However, these cell lines are heterogeneous, which presents a limitation for their use in...
Reprogramming Human Adult Fibroblasts into GABAergic Interneurons.
Andreas Bruzelius, Srisaiyini Kidnapillai, Janelle Drouin-Ouellet, Tom Stoker, Roger A Barker, Daniella Rylander Ottosson
Jan 28, 2022
Direct reprogramming is an appealing strategy to generate neurons from a somatic cell by forced expression of transcription factors. The generated neurons can be used for both cell replacement strategies and disease modelling....
adult skin cells calbindin direct reprogramming disease-modelling Electrophysiology iN neuronal conversion Adult Brain Diseases Cell Differentiation Cellular Reprogramming Cognitive Dysfunction FIBROBLASTS GABAergic Neurons Gene Expression Regulation Humans Interneurons Neurogenesis Neuroglia Repressor Proteins Skin gamma-Aminobutyric Acid
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
Beatriz Castejón-Vega, Alejandro Rubio, Antonio J Pérez-Pulido, José L Quiles, Jon D Lane, Beatriz Fernández-Domínguez, María Begoña Cachón-González, Carmen Martín-Ruiz, Alberto Sanz, Timothy M Cox, Elísabet Alcocer-Gómez, Mario D Cordero
Jan 07, 2022
AIMS: Tay-Sachs and Sandhoff diseases (GM2 gangliosidosis) are autosomal recessive disorders of lysosomal function that cause progressive neurodegeneration in infants and young children. Impaired hydrolysis catalysed by...
GM2 gangliosidosis L-arginine Autophagy mTOR Arginine Autophagosomes Autophagy Cathepsins FIBROBLASTS Gangliosidoses GM2 Hexosaminidase A Hexosaminidase B Humans Lysosomes Mutation Permeability Proto-Oncogene Proteins c-akt Sandhoff Disease Signal Transduction TOR Serine-Threonine Kinases Tay-Sachs Disease Transcriptome
Lymph node homeostasis and adaptation to immune challenge resolved by fibroblast network mechanics.
Harry L Horsnell, Robert J Tetley, Henry de Belly, Spyridon Makris, Lindsey J Millward, Agnesska C Benjamin, Lucas A Heeringa, Charlotte M de Winde, Ewa K Paluch, Yanlan Mao, Sophie E Acton
Aug 06, 2022
Emergent physical properties of tissues are not readily understood by reductionist studies of their constituent cells. Here, we show molecular signals controlling cellular, physical, and structural properties and collectively...
ZNF703 is a common Luminal B breast cancer oncogene that differentially regulates luminal and basal progenitors in human mammary epithelium.
Daniel G Holland, Angela Burleigh, Anna Git, Mae A Goldgraben, Pedro A Perez-Mancera, Suet-Feung Chin, Antonio Hurtado, Alejandra Bruna, H Raza Ali, Wendy Greenwood, Mark J Dunning, Shamith Samarajiwa, Suraj Menon, Oscar M Rueda, Andy G Lynch, Steven McKinney, Ian O Ellis, Connie J Eaves, Jason S Carroll, Christina Curtis, Samuel Aparicio, Carlos Caldas
Feb 17, 2021
The telomeric amplicon at 8p12 is common in oestrogen receptor-positive (ER+) breast cancers. Array-CGH and expression analyses of 1172 primary breast tumours revealed that ZNF703 was the single gene within the minimal amplicon...
Type I interferon induces CXCL13 to support ectopic germinal center formation.
Alice E Denton, Silvia Innocentin, Edward J Carr, Barry M Bradford, Fanny Lafouresse, Neil A Mabbott, Urs Mörbe, Burkhard Ludewig, Joanna R Groom, Kim L Good-Jacobson, Michelle A Linterman
Sep 18, 2019
Ectopic lymphoid structures form in a wide range of inflammatory conditions, including infection, autoimmune disease, and cancer. In the context of infection, this response can be beneficial for the host: influenza A virus...
Aberrant anaplastic lymphoma kinase activity induces a p53 and Rb-dependent senescence-like arrest in the absence of detectable p53 stabilization.
Anaplastic Lymphoma Kinase (ALK) is a receptor tyrosine kinase aberrantly expressed in a variety of tumor types, most notably in Anaplastic Large Cell Lymphoma (ALCL) where a chromosomal translocation generates the oncogenic...
Anaplastic Lymphoma Kinase Animals Cell Adhesion Cell Cycle Cell Proliferation Cell Transformation Neoplastic Cells Cultured Cellular Senescence Cyclin-Dependent Kinase Inhibitor p16 Embryo Mammalian FIBROBLASTS Humans Mice Models Biological Mutation Protein Processing Post-Translational Protein Stability Protein-Tyrosine Kinases Receptor Protein-Tyrosine Kinases Retinoblastoma Protein Transcription Genetic Tumor Suppressor Protein p53
Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.
Valentina Debattisti, Adam Horn, Raghavendra Singh, Erin L Seifert, Marshall W Hogarth, Davi A Mazala, Kai Ting Huang, Rita Horvath, Jyoti K Jaiswal, György Hajnóczky
Apr 21, 2020
Muscle function is regulated by Ca2+, which mediates excitation-contraction coupling, energy metabolism, adaptation to exercise, and sarcolemmal repair. Several of these actions rely on Ca2+ delivery to the mitochondrial matrix...
Atrophy autosomal recessive Calcium Injury membrane Mitochondria mitochondrial disease muscle disease Adolescent Adult Animals Calcium Calcium Signaling Calcium-Binding Proteins Cation Transport Proteins Cell Membrane Cytosol Female FIBROBLASTS Homeostasis Humans Male Mice Knockout Mitochondria Mitochondrial Membrane Transport Proteins Models Biological Muscle Contraction Muscle Weakness Muscle Skeletal Muscular Atrophy Sarcolemma Tetanus Wasting Syndrome
GWAS of epigenetic aging rates in blood reveals a critical role for TERT.
Ake T Lu, Luting Xue, Elias L Salfati, Brian H Chen, Luigi Ferrucci, Daniel Levy, Roby Joehanes, Joanne M Murabito, Douglas P Kiel, Pei-Chien Tsai, Idil Yet, Jordana T Bell, Massimo Mangino, Toshiko Tanaka, Allan F McRae, Riccardo E Marioni, Peter M Visscher, Naomi R Wray, Ian J Deary, Morgan E Levine, Austin Quach, Themistocles Assimes, Philip S Tsao, Devin Absher, James D Stewart, Yun Li, Alex P Reiner, Lifang Hou, Andrea A Baccarelli, Eric A Whitsel, Abraham Aviv, Alexia Cardona, Felix R Day, Nicholas J Wareham, John RB Perry, Ken K Ong, Kenneth Raj, Kathryn L Lunetta, Steve Horvath
Apr 13, 2018
DNA methylation age is an accurate biomarker of chronological age and predicts lifespan, but its underlying molecular mechanisms are unknown. In this genome-wide association study of 9907 individuals, we find gene variants...
MiR-221 influences effector functions and actin cytoskeleton in mast cells.
Ramon J Mayoral, Lorenzo Deho, Nicole Rusca, Nenad Bartonicek, Harpreet Kaur Saini, Anton J Enright, Silvia Monticelli
Jan 23, 2018
Mast cells have essential effector and immunoregulatory functions in IgE-associated allergic disorders and certain innate and adaptive immune responses, but the role of miRNAs in regulating mast cell functions is almost...
3T3 Cells Actin Cytoskeleton Actins Animals Base Sequence Bone Marrow Cells Cell Adhesion Cell Degranulation Cell Differentiation Cell Movement Cell Proliferation Cyclin-Dependent Kinase Inhibitor p27 Down-Regulation FIBROBLASTS Gene Knockdown Techniques Lentivirus Mast Cells Mice Mice Inbred C57BL MicroRNAs Molecular Sequence Data Oligonucleotide Array Sequence Analysis Up-Regulation
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
Eszter Dombi, Alan Diot, Karl Morten, Janet Carver, Tiffany Lodge, Carl Fratter, Yi Shiau Ng, Chunyan Liao, Rebecca Muir, Emma L Blakely, Iain Hargreaves, Mazhor Al-Dosary, Gopa Sarkar, Simon J Hickman, Susan M Downes, Sandeep Jayawant, Patrick Yu-Wai-Man, Robert W Taylor, Joanna Poulton
Jun 28, 2018
acidosis Lactic Adolescent Adult Aged Aged 80 and over antioxidants Cells Cultured Child Child Preschool DNA Mitochondrial Female FIBROBLASTS Humans Infant Infant Newborn Leigh Disease Male Microtubule-Associated Proteins Middle Aged Mitochondrial Dynamics Mitochondrial Membrane Transport Proteins Mitochondrial Precursor Protein Import Complex Proteins mitophagy Mutation Neurology Ubiquinone Young Adult
Disseminated $\textit{Mycobacterium malmoense}$ and $\textit{Salmonella}$ Infections Associated with a Novel Variant in $\textit{NFKBIA}$
E Staples, B Morillo-Gutierrez, J Davies, D Petersheim, M Massaad, M Slatter, D Dimou, R Doffinger, S Hackett, D Kumararatne, J Hadfield, MD Eldridge, RS Geha, M Abinun, JED Thaventhiran
May 05, 2017
JEDT is supported by a MRC Clinician Scientist Fellowship (MR/L006197/1). This work has been funded by BRC III PPG funding and by grant number 1R21AI124101-01 “Mechanisms of disease in patients with IκBα mutations” in RG’s...
Generation of functional human oligodendrocytes from dermal fibroblasts by direct lineage conversion.
Koji Tanabe, Hiroko Nobuta, Nan Yang, Cheen Euong Ang, Philip Huie, Sacha Jordan, Michael C Oldham, David H Rowitch, Marius Wernig
Jun 29, 2022
Loss of AP-5 results in accumulation of aberrant endolysosomes
Jennifer Hirst, James R Edgar, Typhaine Esteves, Frédéric Darios, Marianna Madeo, Jaerak Chang, Ricardo H Roda, Alexandra Dürr, Mathieu Anheim, Cinzia Gellera, Jun Li, Stephan Züchner, Caterina Mariotti, Giovanni Stevanin, Craig Blackstone, Michael C Kruer, Margaret S Robinson
Jun 25, 2015
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