Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Autor: Blanco E; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Camps C; National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford , Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford , Oxford, UK., Bahal S; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Kerai MD; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Immunology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ferla MP; National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford , Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford , Oxford, UK., Rochussen AM; Cambridge Institute for Medical Research, University of Cambridge , Cambridge, UK., Handel AE; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Golwala ZM; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Spiridou Goncalves H; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Kricke S; SIHMDS-Haematology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Klein F; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Zhang F; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Zinghirino F; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Evans G; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Keane TM; Wellcome Sanger Institute , Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK., Lizot S; Human Lymphohematopoiesis Laboratory, Imagine Institute, INSERM UMR 1163, Université Paris Cité, Paris, France., Kusters MAA; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Iro MA; Department of Paediatric Infectious Diseases and Immunology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine and Institute of Life Sciences, University of Southampton, Southampton, UK., Patel SV; Department of Paediatric Infectious Diseases and Immunology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Morris EC; Department of Immunology, Royal Free London Hospitals NHS Foundation Trust, London, UK.; Institute for Immunity and Transplantation, University College London , London, UK., Burns SO; Department of Immunology, Royal Free London Hospitals NHS Foundation Trust, London, UK.; Institute for Immunity and Transplantation, University College London , London, UK., Radcliffe R; Department of Immunology, University Hospitals of Leicester NHS Trust, Leicester, UK., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Price A; Department of Immunology, University Hospitals of Leicester NHS Trust, Leicester, UK., Gillham O; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, London, UK., Valdebenito GE; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, London, UK., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham , Birmingham, UK., Worth A; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Adams SP; SIHMDS-Haematology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Duchen M; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, London, UK., André I; Human Lymphohematopoiesis Laboratory, Imagine Institute, INSERM UMR 1163, Université Paris Cité, Paris, France., Adams DJ; Wellcome Sanger Institute , Cambridge, UK., Santili G; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Gilmour KC; Immunology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Holländer GA; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.; Paediatric Immunology, Department of Biomedicine, University of Basel and University Children's Hospital, Basel, Switzerland.; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland., Davies EG; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford , Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford , Oxford, UK., Griffiths GM; Cambridge Institute for Medical Research, University of Cambridge , Cambridge, UK., Thrasher AJ; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Dhalla F; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.; Department of Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kreins AY; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre , London, UK.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2025 Jan 06; Vol. 222 (1). Date of Electronic Publication: 2024 Nov 19.

Rewiring cell signalling pathways in pathogenic mtDNA mutations.

Autor: Chung CY; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London WC1E 6BT, UK., Valdebenito GE; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London WC1E 6BT, UK., Chacko AR; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London WC1E 6BT, UK., Duchen MR; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London WC1E 6BT, UK. Electronic address: m.duchen@ucl.ac.uk.

Publikováno v: Trends in cell biology [Trends Cell Biol] 2022 May; Vol. 32 (5), pp. 391-405. Date of Electronic Publication: 2021 Nov 23.

Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation.

Autor: Chung CY; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Singh K; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Kotiadis VN; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Valdebenito GE; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Ahn JH; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Topley E; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Tan J; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Andrews WD; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK., Bilanges B; UCL Cancer Institute, 72 Huntley St, London, WC1E 6DD, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK., Szabadkai G; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK.; Department of Biomedical Sciences, University of Padua, via G. Colombo 3, 35100, Padua, Italy.; The Francis Crick Institute, 1 Midland Rd, London, NW1 1AT, UK., Yuneva M; The Francis Crick Institute, 1 Midland Rd, London, NW1 1AT, UK., Duchen MR; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, Gower Street, London, WC1E 6BT, UK. m.duchen@ucl.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2021 Nov 04; Vol. 12 (1), pp. 6409. Date of Electronic Publication: 2021 Nov 04.