Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Festa BP"'
Autor:
Alberto Luini, Giancarlo Chesi, Annamaria Carissimo, Diana Canetti, Piero Pucci, Mafalda Concilli, Simona Iacobacci, Maria Chiara Monti, Elena V. Polishchuk, Seetharaman Parashuraman, Roman S. Polishchuk, Giuseppe Di Tullio, Angela Amoresano, Bart van de Sluis, Sandro Montefusco, Svetlana Lutsenko, Ramanath Narayana Hegde, Beatrice Paola Festa
Publikováno v:
Hepatology, 63(6), 1842-1859. Wiley
Hepatology (Baltimore, Md.)
Hepatology (Baltim. Md. : Online) (2015). doi:10.1002/hep.28398
info:cnr-pdr/source/autori:Chesi G, Hegde RN, Iacobacci S, Concilli M, Parashuraman S, Festa BP, Polishchuk EV, Di Tullio G, Carissimo A, Montefusco S, Canetti D, Monti M, Amoresano A, Pucci P, van de Sluis B, Lutsenko S, Luini A, Polishchuk RS/titolo:Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants./doi:10.1002%2Fhep.28398/rivista:Hepatology (Baltim. Md. : Online)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
Hepatology (Baltimore, Md.)
Hepatology (Baltim. Md. : Online) (2015). doi:10.1002/hep.28398
info:cnr-pdr/source/autori:Chesi G, Hegde RN, Iacobacci S, Concilli M, Parashuraman S, Festa BP, Polishchuk EV, Di Tullio G, Carissimo A, Montefusco S, Canetti D, Monti M, Amoresano A, Pucci P, van de Sluis B, Lutsenko S, Luini A, Polishchuk RS/titolo:Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants./doi:10.1002%2Fhep.28398/rivista:Hepatology (Baltim. Md. : Online)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
UNLABELLED Wilson disease (WD) is an autosomal recessive disorder that is caused by the toxic accumulation of copper (Cu) in the liver. The ATP7B gene, which is mutated in WD, encodes a multitransmembrane domain adenosine triphosphatase that traffics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44258bdc0f95ee9bf3dca8869aec015b
https://pubmed.ncbi.nlm.nih.gov/26822144
https://pubmed.ncbi.nlm.nih.gov/26822144
Autor:
Festa BP; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), Cambridge, UK.; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), Cambridge, UK., Siddiqi FH; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), Cambridge, UK.; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), Cambridge, UK., Jimenez-Sanchez M; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), Cambridge, UK.; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Rubinsztein DC; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), Cambridge, UK.; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), Cambridge, UK.
Publikováno v:
Autophagy [Autophagy] 2024 Apr; Vol. 20 (4), pp. 949-951. Date of Electronic Publication: 2023 Jun 26.
Autor:
Berquez M; Institute of Physiology, University of Zurich, 8057, Zurich, Switzerland., Chen Z; Institute of Physiology, University of Zurich, 8057, Zurich, Switzerland., Festa BP; Institute of Physiology, University of Zurich, 8057, Zurich, Switzerland., Krohn P; Institute of Physiology, University of Zurich, 8057, Zurich, Switzerland., Keller SA; Institute of Physiology, University of Zurich, 8057, Zurich, Switzerland., Parolo S; Fondazione The Microsoft Research University of Trento-Centre for Computational and Systems Biology (COSBI), 38068, Rovereto, Italy., Korzinkin M; Insilico Medicine Hong Kong Ltd., Hong Kong Science and Technology Park, Hong Kong, Hong Kong SAR, China., Gaponova A; Insilico Medicine Hong Kong Ltd., Hong Kong Science and Technology Park, Hong Kong, Hong Kong SAR, China., Laczko E; Functional Genomics Center Zurich, University of Zurich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland., Domenici E; Fondazione The Microsoft Research University of Trento-Centre for Computational and Systems Biology (COSBI), 38068, Rovereto, Italy.; Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, 38123, Trento, Italy., Devuyst O; Institute of Physiology, University of Zurich, 8057, Zurich, Switzerland. olivier.devuyst@uzh.ch.; Institute for Rare Diseases, UCLouvain Medical School, 1200, Brussels, Belgium. olivier.devuyst@uzh.ch., Luciani A; Institute of Physiology, University of Zurich, 8057, Zurich, Switzerland. alessandro.luciani@uzh.ch.
Publikováno v:
Nature communications [Nat Commun] 2023 Jul 14; Vol. 14 (1), pp. 3994. Date of Electronic Publication: 2023 Jul 14.
Autor:
Festa BP; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK., Siddiqi FH; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK., Jimenez-Sanchez M; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK., Won H; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK., Rob M; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK., Djajadikerta A; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK., Stamatakou E; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK., Rubinsztein DC; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), CB2 0XY Cambridge, UK. Electronic address: dcr1000@cam.ac.uk.
Publikováno v:
Neuron [Neuron] 2023 Jul 05; Vol. 111 (13), pp. 2021-2037.e12. Date of Electronic Publication: 2023 Apr 26.
Autor:
Festa BP; Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland., Berquez M; Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland., Nieri D; Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland., Luciani A; Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland. alessandro.luciani@uzh.ch.
Publikováno v:
Reviews of physiology, biochemistry and pharmacology [Rev Physiol Biochem Pharmacol] 2023; Vol. 185, pp. 233-257.
Autor:
Krohn P; Institute of Physiology, University of Zurich, Zurich 8057, Switzerland., Rega LR; Renal Diseases Research Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Harvent M; Institute of Physiology, University of Zurich, Zurich 8057, Switzerland., Festa BP; Institute of Physiology, University of Zurich, Zurich 8057, Switzerland., Taranta A; Renal Diseases Research Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Luciani A; Institute of Physiology, University of Zurich, Zurich 8057, Switzerland., Dewulf J; Department of Laboratory Medicine, Cliniques universitaires Saint Luc, UCLouvain, Brussels 1200, Belgium.; Department of Biochemistry, de Duve Institute, UCLouvain, Brussels 1200, Belgium., Cremonesi A; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich 8032, Switzerland., Camassei FD; Department of Laboratories-Pathology Unit, Bambino Gesù Children's Hospital, Rome 00165, Italy., Hanson JVM; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich 8091, Switzerland., Gerth-Kahlert C; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich 8091, Switzerland., Emma F; Renal Diseases Research Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.; Department of Pediatric Subspecialties, Division of Nephrology, Children's Hospital Bambino Gesù, IRCCS, Rome 00165, Italy., Berquez M; Institute of Physiology, University of Zurich, Zurich 8057, Switzerland., Devuyst O; Institute of Physiology, University of Zurich, Zurich 8057, Switzerland.; Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Jul 07; Vol. 31 (13), pp. 2262-2278.
Autor:
Festa BP; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK., Barbosa AD; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK., Rob M; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK., Rubinsztein DC; Department of Medical Genetics, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK; UK Dementia Research Institute, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK. Electronic address: dcr1000@cam.ac.uk.
Publikováno v:
Current opinion in pharmacology [Curr Opin Pharmacol] 2021 Oct; Vol. 60, pp. 149-157. Date of Electronic Publication: 2021 Aug 19.
Autor:
Berquez M; Institute of Physiology, University of Zurich, Zurich, Switzerland., Gadsby JR; Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, UK., Festa BP; Institute of Physiology, University of Zurich, Zurich, Switzerland., Butler R; Gurdon Institute, University of Cambridge, Cambridge, UK., Jackson SP; Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, UK., Berno V; Experimental Imaging Center, ALEMBIC, IRCCS San Raffaele Scientific Institute, Milan, Italy., Luciani A; Institute of Physiology, University of Zurich, Zurich, Switzerland., Devuyst O; Institute of Physiology, University of Zurich, Zurich, Switzerland. Electronic address: olivier.devuyst@uzh.ch., Gallop JL; Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, UK. Electronic address: j.gallop@gurdon.cam.ac.uk.
Publikováno v:
Kidney international [Kidney Int] 2020 Oct; Vol. 98 (4), pp. 883-896. Date of Electronic Publication: 2020 Sep 09.
Autor:
De Leo E; Renal Diseases Research Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Elmonem MA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, Leuven, Belgium., Berlingerio SP; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, Leuven, Belgium., Berquez M; Institute of Physiology, University of Zurich, Zurich, Switzerland., Festa BP; Institute of Physiology, University of Zurich, Zurich, Switzerland., Raso R; Renal Diseases Research Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Bellomo F; Renal Diseases Research Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Starborg T; Wellcome Trust Centre for Cell-Matrix Research, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK., Janssen MJ; Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., Abbaszadeh Z; Confocal Microscopy Core Facility, Research Laboratories, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Cairoli S; Department of Pediatric Medicine, Laboratory of Metabolic Biochemistry Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Goffredo BM; Department of Pediatric Medicine, Laboratory of Metabolic Biochemistry Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Masereeuw R; Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., Devuyst O; Institute of Physiology, University of Zurich, Zurich, Switzerland., Lowe M; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK., Levtchenko E; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, Leuven, Belgium., Luciani A; Institute of Physiology, University of Zurich, Zurich, Switzerland., Emma F; Renal Diseases Research Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.; Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Rega LR; Renal Diseases Research Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Publikováno v:
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2020 Jul; Vol. 31 (7), pp. 1522-1537. Date of Electronic Publication: 2020 Jun 05.
Autor:
Luciani A; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland. alessandro.luciani@uzh.ch., Schumann A; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland.; Division of Metabolism and Children's Research Center, University Children's Hospital, 8032, Zurich, Switzerland., Berquez M; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Chen Z; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Nieri D; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Failli M; Department of Biomedicine, University of Eastern Finland, 70211, Kuopio, Finland., Debaix H; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Festa BP; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Tokonami N; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland., Raimondi A; San Raffaele Scientific Institute, Experimental Imaging Center, 20132, Milan, Italy., Cremonesi A; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, 8032, Zurich, Switzerland., Carrella D; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078, Naples, Italy., Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital, 8032, Zurich, Switzerland., Kölker S; Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, 69120, Heidelberg, Germany., Camassei FD; Department of Laboratories-Pathology Unit, Bambino Gesù Children's Hospital, 00165, Rome, Italy., Diaz F; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Moraes CT; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Di Bernardo D; Telethon Institute of Genetics and Medicine, Pozzuoli, 80078, Naples, Italy., Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital, 8032, Zurich, Switzerland., Devuyst O; Institute of Physiology and NCCR Kidney.CH, University of Zurich, 8057, Zurich, Switzerland. olivier.devuyst@uzh.ch.; Division of Nephrology, Cliniques Universitaires Saint-Luc, 1040, Brussels, Belgium. olivier.devuyst@uzh.ch.
Publikováno v:
Nature communications [Nat Commun] 2020 Apr 01; Vol. 11 (1), pp. 1719. Date of Electronic Publication: 2020 Apr 01.