Work

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction

Year: 2025

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2025.109049

Authors: Kinsley Belle, Alexander Kreymerman, Jill L. Young, Nirmal Vadgama, Marco H. Ji, Sandeep Randhawa, Juan Caicedo, Megan Wong, Stephanie P. Muscat, Casey A. Gifford, Richard T. Lee, Jamal Nasir, Gregory M. Enns, Ioannis Karakikes, Andrew M. Schaefer, Robert W. Taylor, Mark Mercola, Dwight Koeberl, Edward H. Wood

Institutions: Stanford Medicine, Stanford Cardiovascular Institute, Stanford University, Harvard University, Kaiser Permanente, Kaiser Permanente Sacramento Medical Center, Lucile Packard Children's Hospital, Associated Retinal Consultants, Beaumont Hospital, Royal Oak, Broad Institute, University of Northampton, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle University, Duke University, Duke Medical Center

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Research to Prevent Blindness, United Mitochondrial Disease Foundation, Wellcome Trust, National Institutes of Health, Wellcome Trust Centre for Mitochondrial Research, National Heart, Lung, and Blood Institute, National Eye Institute, National Institute of General Medical Sciences

Awards: G4337445981, G449897445, G5239593872, G5332574606, G577373819, Kinetic Imaging Cytometer (KIC) for High Throughput Studies of Cellular Physiology, Stanford Vision Research Core

OpenAlex ID: W4407243554

FWCI: 0.255

Cites: 41

Cited by: 1

Related to: 10