Author
Sultan Qaboos University Hospital
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Taolin Yuan, Surinder Kumar, Mary E. Skinner…·David B. Lombard
The paper identifies two SIRT5 variants in mitochondrial disease patients that reduce protein stability and activity but not neuropathology, using biochemical and mouse model analyses.
Christian A. E. Westrip, Franziska Paul, Fathiya M. Al-Murshedi…·Mathew L. Coleman
This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.
Domagoj Cikes, Kareem Elsayad, Erdinç Sezgin…·Josef Martin Penninger
This study identifies PCYT2 as critical for muscle health and aging, showing its deficiency causes muscle weakness and aging, and demonstrates therapeutic potential through AAV-based delivery.