S Lunke, SE Bouffler, CV Patel, SA Sandaradura… - Nature medicine, 2023 - nature.com
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …
Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial …
Summary Acyl-protein thioesterases 1 and 2 (APT1 and APT2) reverse S-acylation, a potential regulator of systemic glucose metabolism in mammals. Palmitoylation proteomics …
RG Lee, DL Rudler, O Rackham, A Filipovska - Trends in Endocrinology & …, 2024 - cell.com
The presence of membrane-bound organelles with specific functions is one of the main hallmarks of eukaryotic cells. Organelle membranes are composed of specific lipids that …
M Messina, FM Vaz, S Rahman - Journal of Inherited Metabolic …, 2025 - Wiley Online Library
Mitochondria are dynamic cellular organelles with complex roles in metabolism and signalling. Primary mitochondrial disorders are a group of approximately 400 monogenic …
A Joshi, TH Richard, VM Gohil - Journal of Cell Science, 2023 - journals.biologists.com
Studies of rare human genetic disorders of mitochondrial phospholipid metabolism have highlighted the crucial role that membrane phospholipids play in mitochondrial …
N Senoo, DK Chinthapalli, MG Baile, VK Golla… - The EMBO …, 2024 - embopress.org
Lipid-protein interactions play a multitude of essential roles in membrane homeostasis. Mitochondrial membranes have a unique lipid-protein environment that ensures …
O Rackham, M Saurer, N Ban, A Filipovska - Trends in Cell Biology, 2024 - cell.com
Mitochondria rely on coordinated expression of their own mitochondrial DNA (mtDNA) with that of the nuclear genome for their biogenesis. The bacterial ancestry of mitochondria has …
T Hartley, É Soubry, M Acker, M Osmond… - Clinical …, 2023 - Wiley Online Library
We examined the utility of clinical and research processes in the reanalysis of publicly‐ funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …