Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Mutations in the gene triosephosphate isomerase (TPI) lead to a severe multisystem condition that is characterized by hemolytic anemia, a weakened immune system, and significant neurologic symptoms such as seizures, distal neuropathy, and intellectual disability. No effective therapy is available. H...

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Detalhes bibliográficos
Publicado no:Biochim Biophys Acta Mol Basis Dis
Main Authors: Roland, Bartholomew P., Richards, Kristen R., Hrizo, Stacy L., Eicher, Samantha, Barile, Zackery J., Chang, Tien-Chien, Savon, Grace, Bianchi, Paola, Fermo, Elisa, Maria Ricerca, Bianca, Tortorolo, Luca, Vockley, Jerry, VanDemark, Andrew P., Palladino, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6659405/
https://ncbi.nlm.nih.gov/pubmed/31075491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2019.05.002
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