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

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

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