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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Veröffentlicht in:	PLoS genetics 2016-03, Vol.12 (3)
Hauptverfasser:	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., Pallanck, Leo J.
Format:	Artikel
Sprache:	eng
Schlagworte:	BASIC BIOLOGICAL SCIENCES
Online-Zugang:	Volltext
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