Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

Triosephosphate isomerase (TPI) deficiency is a poorly understood disease characterized by hemolytic anemia, cardiomyopathy, neurologic dysfunction, and early death. TPI deficiency is one of a group of diseases known as glycolytic enzymopathies, but is unique for its severe patient neuropathology an...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Roland, Bartholomew P., Zeccola, Alison M., Larsen, Samantha B., Amrich, Christopher G., Talsma, Aaron D., Stuchul, Kimberly A., Heroux, Annie, Levitan, Edwin S., VanDemark, Andrew P., Palladino, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4816394/
https://ncbi.nlm.nih.gov/pubmed/27031109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005941
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