Molecular basis of neurodegeneration in a mouse model of Polr3 -related disease.

Autor: Moir RD; Department of Biochemistry, Albert Einstein College of Medicine, Bronx, United States., Merheb E; Department of Biochemistry, Albert Einstein College of Medicine, Bronx, United States., Chitu V; Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, United States., Stanley ER; Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, United States., Willis IM; Department of Biochemistry, Albert Einstein College of Medicine, Bronx, United States.; Department of Systems and Computational Biology, Albert Einstein College of Medicine, Bronx, United States.

Publikováno v: ELife [Elife] 2024 Nov 05; Vol. 13. Date of Electronic Publication: 2024 Nov 05.

Disruption of tRNA biogenesis enhances proteostatic resilience, improves later-life health, and promotes longevity.

Autor: Malik Y; School of Biosciences, University of Kent, Canterbury, United Kingdom., Kulaberoglu Y; Institute of Healthy Ageing, Research Department of Genetics Evolution and Environment, University College London, London, United Kingdom., Anver S; Institute of Healthy Ageing, Research Department of Genetics Evolution and Environment, University College London, London, United Kingdom., Javidnia S; Institute of Healthy Ageing, Research Department of Genetics Evolution and Environment, University College London, London, United Kingdom., Borland G; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom., Rivera R; School of Biosciences, University of Kent, Canterbury, United Kingdom., Cranwell S; Institute of Healthy Ageing, Research Department of Genetics Evolution and Environment, University College London, London, United Kingdom., Medelbekova D; Institute of Healthy Ageing, Research Department of Genetics Evolution and Environment, University College London, London, United Kingdom., Svermova T; Institute of Healthy Ageing, Research Department of Genetics Evolution and Environment, University College London, London, United Kingdom., Thomson J; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom., Broughton S; Division of Biomedical and Life Sciences, Faculty of Health and Medicine, Lancaster University, Lancaster, United Kingdom., von der Haar T; School of Biosciences, University of Kent, Canterbury, United Kingdom., Selman C; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom., Tullet JMA; School of Biosciences, University of Kent, Canterbury, United Kingdom., Alic N; Institute of Healthy Ageing, Research Department of Genetics Evolution and Environment, University College London, London, United Kingdom.

Publikováno v: PLoS biology [PLoS Biol] 2024 Oct 22; Vol. 22 (10), pp. e3002853. Date of Electronic Publication: 2024 Oct 22 (Print Publication: 2024).

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Autor: Symonds JD; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK., Park KL; Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA., Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Sorbonne Université, Paris, France., Macleod S; Royal Hospital for Children, Glasgow, UK., Armstrong M; UCB Pharma, Braine l'Alleud, Belgium., Ashrafian H; Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Department of Experimental Therapeutics, Radcliffe Department of Medicine, John Radcliffe Hospital, Oxford, UK., Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research, Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Brown K; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Brunklaus A; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK., Callaghan M; Department of Paediatrics, University Hospital Wishaw, Wishaw, UK., Classen G; Children's Center Bethel, University Bielefeld, Bielefeld, Germany., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Cutcutache I; UCB Pharma, Slough, UK., de Sainte Agathe JM; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France., Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Elliot KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Isapof A; Service de Neuropédiatrie, Hôpital Trousseau, Sorbonne Université, Paris, France., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France., Marble M; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., McTague A; Developmental Neurosciences. Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Page M; UCB Pharma, Slough, UK., Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France., Reese J; Presbyterian Healthcare System, Albuquerque, New Mexico, USA., Saenz M; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stobo D; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Stockhaus C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Vuillaume ML; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; UMR 1253, iBrain, University of Tours, Tours, France.; Genetics Department, University of Tours, Tours, France., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Yoon G; Departments of Paediatrics and Molecular Genetics, Hospital for Sick Children, Toronto, Ontario, Canada., Knight JC; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Zuberi SM; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK.

Publikováno v: Epilepsia [Epilepsia] 2024 Nov; Vol. 65 (11), pp. 3303-3323. Date of Electronic Publication: 2024 Sep 30.

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

Autor: De Dominicis A; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Stregapede F; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy., Colona VL; Movement Analysis and Robotics Laboratory (MARlab), Research Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nicita F; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sartorelli J; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sparascio FP; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Bertini ES; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: enricosilvio.bertini@opbg.net., Trivisano M; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.

Publikováno v: Seizure [Seizure] 2024 Oct; Vol. 121, pp. 141-146. Date of Electronic Publication: 2024 Aug 17.

Non-canonical functions of enhancers: regulation of RNA polymerase III transcription, DNA replication, and V(D)J recombination.

Autor: Struhl K; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA. Electronic address: kevin@hms.harvard.edu.

Publikováno v: Trends in genetics : TIG [Trends Genet] 2024 Jun; Vol. 40 (6), pp. 471-479. Date of Electronic Publication: 2024 Apr 19.