Communications Biology (Apr 2022)
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease
- Urša Šušnjar,
- Neva Škrabar,
- Anna-Leigh Brown,
- Yasmine Abbassi,
- Hemali Phatnani,
- NYGC ALS Consortium,
- Andrea Cortese,
- Cristina Cereda,
- Enrico Bugiardini,
- Rosanna Cardani,
- Giovanni Meola,
- Michela Ripolone,
- Maurizio Moggio,
- Maurizio Romano,
- Maria Secrier,
- Pietro Fratta,
- Emanuele Buratti
Affiliations
- Urša Šušnjar
- Molecular Pathology Lab, International Centre for Genetic Engineering and Biotechnology (ICGEB)
- Neva Škrabar
- Tumour Virology Lab, International Centre for Genetic Engineering and Biotechnology (ICGEB)
- Anna-Leigh Brown
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Yasmine Abbassi
- Molecular Pathology Lab, International Centre for Genetic Engineering and Biotechnology (ICGEB)
- Hemali Phatnani
- Center for Genomics of Neurodegenerative Disease, New York Genome Center
- NYGC ALS Consortium
- Andrea Cortese
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Cristina Cereda
- Genomic and post-Genomic Unit, IRCCS Mondino Foundation
- Enrico Bugiardini
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Rosanna Cardani
- BioCor Biobank, UOC SMEL-1 of Clinical Pathology, IRCCS-Policlinico San Donato
- Giovanni Meola
- Department of Biomedical Sciences for Health, University of Milan
- Michela Ripolone
- Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- Maurizio Moggio
- Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- Maurizio Romano
- Department of Life Sciences, University of Trieste
- Maria Secrier
- UCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London
- Pietro Fratta
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Emanuele Buratti
- Molecular Pathology Lab, International Centre for Genetic Engineering and Biotechnology (ICGEB)
- DOI
- https://doi.org/10.1038/s42003-022-03253-8
- Journal volume & issue
-
Vol. 5,
no. 1
pp. 1 – 17
Abstract
The aetiology of the TDP-43 aggregation manifest itself in the muscle and neuronal cells. Here authors show cell-type characteristic functions of TDP43, reflected in aberrant splicing, likely contributing to disease development.
