... heteroplasmy, and the strong evolutionary conservation of the proteins encoded in mitochondria, Saccharomyces cerevisiae provides a convenient model to investigate the functional consequences of human mtDNA variants. We herein report the construction and energy-transducing properties of yeast models of eight...

... to diseases as a result of their effect on gene function. Here, we describe a generic approach using the yeast Saccharomyces cerevisiae to quickly develop gene-specific in vivo assays that can be used to quantify the level of function of a genetic variant. Using synthetic dosage lethality screening, ‘sentinel...

..., which are conserved from yeast to human, are essential, and their disturbances are associated with severe human disorders, including neurodegenerative diseases. For example, mutations in OPA1 , which encodes a conserved factor essential for mitochondrial fusion, lead to optic atrophy 1...

... is unclear. A simple yeast model was used to investigate the function of the single yeast VSP13 orthologue, Vps13. Vps13, like human VPS13A, is involved in vesicular protein transport, actin cytoskeleton organisation and phospholipid metabolism. A newly identified phenotype of the vps13 Δ mutant, sodium...

... screens: yeast . Nat. Rev. Genet.   2 , 659 - 668 . 10.1038/35088500 Garelli , A. , Gontijo , A. M. , Miguela , V. , Caparros , E. and Dominguez , M. ( 2012 ). Imaginal discs secrete insulin-like peptide 8 to mediate plasticity of growth and maturation . Science   336...

... not been fully explored. To identify conserved cellular factors that can alter torsinAΔE protein levels, we designed a new high-throughput, automated, genome-wide screen utilizing our validated Saccharomyces cerevisiae torsinA expression system. By analyzing the yeast non-essential gene deletion collection...

... of mitochondrial function and dysfunction comes from studies in the baker's yeast Saccharomyces cerevisiae. Because of its good fermenting capacity, S. cerevisiae can survive mutations that inactivate oxidative phosphorylation, has the ability to tolerate the complete loss of mitochondrial DNA (a property referred...

... attributed. Disease Misfolding Protein Yeast Proteins are the molecular machines that control our most vital cellular functions. To fulfill its role, a protein must first fold into its correct three-dimensional structure, assuming complicated tertiary and sometimes quaternary conformations...

...Evandro A. De-Souza; Felipe S. A. Pimentel; Caio M. Machado; Larissa S. Martins; Wagner S. da-Silva; Mónica Montero-Lomelí; Claudio A. Masuda Classic galactosemia is a human autosomal recessive disorder caused by mutations in the GALT gene ( GAL7 in yeast), which encodes the enzyme galactose-1...