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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816394/
https://www.ncbi.nlm.nih.gov/pubmed/27031109
http://dx.doi.org/10.1371/journal.pgen.1005941

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816394/
https://www.ncbi.nlm.nih.gov/pubmed/27031109
http://dx.doi.org/10.1371/journal.pgen.1005941

Ejemplares similares