Research Article
Open Access
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms
View ORCID ProfileKelsey A Nolden, John M Egner, Jack J Collier, Oliver M Russell, Charlotte L Alston, Megan C Harwig, Michael E Widlansky, View ORCID ProfileSouphatta Sasorith, View ORCID ProfileInês A Barbosa, View ORCID ProfileAndrew GL Douglas, View ORCID ProfileJulia Baptista, Mark Walker, Deirdre E Donnelly, View ORCID ProfileAndrew A Morris, Hui Jeen Tan, Manju A Kurian, Kathleen Gorman, View ORCID ProfileSantosh Mordekar, Charu Deshpande, Rajib Samanta, Robert McFarland, View ORCID ProfileR Blake Hill, View ORCID ProfileRobert W Taylor, View ORCID ProfileMonika Oláhová Correspondence email
Kelsey A Nolden
1Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA
Roles: Conceptualization, Data curation, Software, Formal analysis, Investigation, Methodology, Writing—original draft, review, and editing
John M Egner
1Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA
Roles: Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing—original draft
Jack J Collier
2Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK
3Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada
Roles: Data curation, Software, Formal analysis, Investigation, Methodology, Writing—original draft
Oliver M Russell
2Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK
Roles: Software, Formal analysis, Investigation, Writing—review and editing
Charlotte L Alston
2Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK
4The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Roles: Formal analysis and investigation
Megan C Harwig
1Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA
Roles: Software, Formal analysis, Investigation, Writing—review and editing
Michael E Widlansky
5Department of Medicine, Division of Cardiovascular Medicine and Department of Pharmacology, Medical College of Wisconsin, Milwaukee, WI, USA
Roles: Investigation
Souphatta Sasorith
6Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire and PhyMedExp, INSERM U1046, CNRS UMR 9214, Montpellier, France
Roles: Software and formal analysis
Inês A Barbosa
7Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London, London, UK
Roles: Formal analysis and investigation
Andrew GL Douglas
8Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK
9Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK
Roles: Investigation
Julia Baptista
10Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK
Roles: Formal analysis and investigation
Mark Walker
11Department of Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, UK
Roles: Investigation
Deirdre E Donnelly
12Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK
Roles: Investigation
Andrew A Morris
13Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK
Roles: Investigation
Hui Jeen Tan
14Department of Paediatric Neurology, Royal Manchester Children’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK
Roles: Formal analysis and investigation
Manju A Kurian
15Developmental Neurosciences Department, Zayed Centre for Research into Rare Diseases in Children, University College London Great Ormond Street Institute of Child Health, Faculty of Population Health Sciences, London, UK
Roles: Investigation
Kathleen Gorman
16Department of Neurology and Clinical Neurophysiology, Children’s Health Ireland at Temple Street, Dublin, Ireland
17School of Medicine and Medical Science, University College Dublin, Dublin, Ireland
Roles: Formal analysis and investigation
Santosh Mordekar
18Department of Paediatric Neurology, Sheffield Children’s Hospital, Sheffield, UK
Roles: Investigation
Charu Deshpande
19Clinical Genetics Unit, Guys and St. Thomas’ NHS Foundation Trust, London, UK
Roles: Investigation
Rajib Samanta
20Department of Paediatric Neurology, University Hospitals Leicester NHS Trust, Leicester, UK
Roles: Investigation
Robert McFarland
2Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK
4The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Roles: Investigation, Writing—review and editing
R Blake Hill
1Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA
Roles: Supervision, Funding acquisition, Investigation, Writing—review and editing
Robert W Taylor
2Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK
4The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Roles: Data curation, Supervision, Funding acquisition, Investigation, Writing—review and editing
Monika Oláhová
2Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK
Roles: Conceptualization, Data curation, Formal analysis, Supervision, Funding acquisition, Investigation, Methodology, Writing—original draft, review, and editing
Published 1 August 2022. DOI: 10.26508/lsa.202101284
Pathomechanisms of DNM1L-related disease
Kelsey A Nolden, John M Egner, Jack J Collier, Oliver M Russell, Charlotte L Alston, Megan C Harwig, Michael E Widlansky, Souphatta Sasorith, Inês A Barbosa, Andrew GL Douglas, Julia Baptista, Mark Walker, Deirdre E Donnelly, Andrew A Morris, Hui Jeen Tan, Manju A Kurian, Kathleen Gorman, Santosh Mordekar, Charu Deshpande, Rajib Samanta, Robert McFarland, R Blake Hill, Robert W Taylor, Monika Oláhová
Life Science Alliance Aug 2022, 5 (12) e202101284; DOI: 10.26508/lsa.202101284
Pathomechanisms of DNM1L-related disease
Kelsey A Nolden, John M Egner, Jack J Collier, Oliver M Russell, Charlotte L Alston, Megan C Harwig, Michael E Widlansky, Souphatta Sasorith, Inês A Barbosa, Andrew GL Douglas, Julia Baptista, Mark Walker, Deirdre E Donnelly, Andrew A Morris, Hui Jeen Tan, Manju A Kurian, Kathleen Gorman, Santosh Mordekar, Charu Deshpande, Rajib Samanta, Robert McFarland, R Blake Hill, Robert W Taylor, Monika Oláhová
Life Science Alliance Aug 2022, 5 (12) e202101284; DOI: 10.26508/lsa.202101284
In this Issue
Volume 5, No. 12
December 2022
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