Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of rare disease, and present case studies of affected patients through a collaboration with Boston Children’s Hospital. The findings help to identify genetic mutations that may contribute to rare diseases.
Jonathan Weissman and colleagues developed an optogenetic approach to study where in the cell proteins get made and used it to characterize two groups of proteins produced next to mitochondria. This could lead to new insights into mitochondrial function and dysfunction in disease.
How do proteins know where to go inside a cell? Henry Kilgore, a postdoc in Whitehead Institute Member Richard Young’s lab, answers this intriguing question from Samara, a 9th grader, in Acton, MA.
Science in 60 breaks down the latest research at Whitehead Institute through one-minute explainers. In this video, Gayathri Muthukumar discusses how the outer mitochondrial membrane, which is a hub for signaling proteins, helps regulate mitochondrial functions.
Henry Kilgore is a postdoc in Whitehead Institute Member Richard Young’s lab working on understanding how protein chemistry influences where in the cell proteins localize. We sat down with Henry to learn more about him and his experiences in and out of the lab.
Whitehead Institute Member Richard Young and colleagues have created a machine learning model that can predict in which cellular compartments a protein will reside, generate proteins to reside in a desired compartment, and detect disease mutations that alter cellular compartments, with implications for understanding and remedying disease.
Whitehead Institute Member Iain Cheeseman and colleagues found that cells not only make many variants of known proteins, but that they switch between making different variants to tailor protein function during cell division.
Whitehead Institute Founding Member Rudolf Jaenisch and colleagues have uncovered how the Rett syndrome disease gene plays a key role in the expression of many other neuronal genes, expanding our understanding of the biology of Rett syndrome and, potentially, autism spectrum disorder.
Whitehead Institute Member Jonathan Weissman and colleagues used large-scale systematic genetic screens to identify the molecules and pathways that populate the mitochondrial surface with important and diverse signaling proteins. They deciphered the logic by which the cell ensures the proper delivery of these proteins. These findings may have important implications for understanding the impact on health and disease when these processes go awry.