Research Grant Progress Report by Liang Feng, PhD, Associate Professor, Stanford University in California

Researcher Liang Feng, PhD, Associate Professor of Molecular and Cellular Physiology at Stanford University, received a grant award in 2022 for his research “Investigating the Molecular Basis of Protein Dynamics in Cystinosis”.  The goal of his study is to understand the molecular basis of protein dynamics that have important implications in cystinosis.

Conformational transitions play a crucial role in enabling proteins to carry out their functions. When these transitions are altered, they can impair proteins’ functions and be associated with disease-causing mutations. We are developing biophysical methods to characterize the dynamic properties of membrane proteins associated with cystinosis. This will help us gain insights into the conformational transitions of these proteins under conditions that more closely resemble physiological settings. These studies hold the potential to provide crucial information on how these proteins work at the molecular level and how disease-causing mutations impair their functions. In addition, these studies could lay the groundwork for the development of potential new therapeutic strategies.

Executive Overview Progress Report – May 2024
Membrane proteins and their complexes are essential for lysosomal physiology and function. Their defects and deregulations underlie lysosomal storage diseases, including cystinosis. We are taking biophysical and biochemical approaches to better understand the dynamic properties and functions of key membrane proteins in cystinosis in a native-like environment. Our studies will provide critical insights into the normal functions of these proteins and their malfunctions in the disease state. In addition, our research will help elucidate the mechanisms of disease-causing mutations and aid in the development of new strategies to restore the functions impaired by those mutations.