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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Bibliographic Details
Main Authors: Bartholomew P Roland, Alison M Zeccola, Samantha B Larsen, Christopher G Amrich, Aaron D Talsma, Kimberly A Stuchul, Annie Heroux, Edwin S Levitan, Andrew P VanDemark, Michael J Palladino
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4816394?pdf=render