Litcius/Paper detail

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

Itay Tokatly Latzer, Jean‐Baptiste Roullet, Samuele Cesaro, Melissa L. DiBacco, Erland Arning, Alexander Rotenberg, Henry H.C. Lee, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Natalia Juliá‐Palacios, K. Michael Gibson, Mariarita Bertoldi, Phillip L. Pearl

2023Human Genetics14 citationsDOI

Topics & Concepts

BiologyProteostasisPhenotypeDeamidationHomotetramerGeneticsProtein foldingIn silicoGeneBiochemistryEnzymeProtein subunitMetabolism and Genetic DisordersDiet and metabolism studiesGenetic Neurodegenerative Diseases