In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly.
Stanford Medicine Nov 27 2024 In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly.
Frydman, the Donald Kennedy Chair in the School of Humanities and Sciences and a professor of biology and genetics, met Ingo Kurth, MD, a pediatrician at the RWTH Aachen University, during a recent sabbatical in Germany, who presented her with an interesting conundrum.
A new class of disease The researchers dubbed this new class of neurological diseases "TRiCopathies" and describe their findings in an article published Oct. 31 in Science. The team has since found an additional patient with mutations in the eighth TRiC subunit. Related StoriesOver the years, her lab has developed methods to study the complex in yeast cells as well as isolated in test tubes. Research scientist Piere Rodriguez-Aliaga, PhD, co-first author on the study, made mutations in the yeast versions of TRiC genes that corresponded to the 22 disease-linked human mutations.
Protein Actin Alzheimer's Disease Cancer Cell Chaperones Disability Gene Genes Genetics Germline Medicine Mutation Newborn OCT Research Yeast
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