Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics [electronic resource]
Drosophila; Synaptic Vesicle Dynamics; Triosephosphate Isomerase; Tpi Deficiency.
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Online Access (via OSTI) |
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| Format: | Government Document Electronic eBook |
| Language: | English |
| Published: |
Washington, D.C. : Oak Ridge, Tenn. :
United States. Department of Energy. Office of Basic Energy Sciences ; distributed by the Office of Scientific and Technical Information, U.S. Department of Energy,
2016.
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| Subjects: |
MARC
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| 245 | 0 | 0 | |a Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics |h [electronic resource] |
| 260 | |a Washington, D.C. : |b United States. Department of Energy. Office of Basic Energy Sciences ; |a Oak Ridge, Tenn. : |b distributed by the Office of Scientific and Technical Information, U.S. Department of Energy, |c 2016. | ||
| 300 | |a Article No. e1005941 : |b digital, PDF file. | ||
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| 500 | |a Published through SciTech Connect. | ||
| 500 | |a 03/31/2016. | ||
| 500 | |a "bnl--112563-2016-ja" | ||
| 500 | |a PLoS Genetics 12 3 ISSN 1553-7404 AM. | ||
| 500 | |a 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. | ||
| 520 | 3 | |a 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 and early mortality. The disease is caused by missense mutations and dysfunction in the glycolytic enzyme, TPI. Previous studies have detailed structural and catalytic changes elicited by disease-associated TPI substitutions, and samples of patient erythrocytes have yielded insight into patient hemolytic anemia; however, the neuropathophysiology of this disease remains a mystery. This study combines structural, biochemical, and genetic approaches to demonstrate that perturbations of the TPI dimer interface are sufficient to elicit TPI deficiency neuropathogenesis. Also, the present study demonstrates that neurologic dysfunction resulting from TPI deficiency is characterized by synaptic vesicle dysfunction, and can be attenuated with catalytically inactive TPI. Collectively, our findings are the first to identify, to our knowledge, a functional synaptic defect in TPI deficiency derived from molecular changes in the TPI dimer interface. | |
| 520 | 0 | |a Drosophila; Synaptic Vesicle Dynamics; Triosephosphate Isomerase; Tpi Deficiency. | |
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| 650 | 7 | |a Basic Biological Sciences. |2 edbsc. | |
| 650 | 7 | |a Applied Life Sciences. |2 edbsc. | |
| 710 | 2 | |a Brookhaven National Laboratory. |4 res. | |
| 710 | 1 | |a United States. |b Department of Energy. |b Office of Basic Energy Sciences. |4 spn. | |
| 710 | 1 | |a United States. |b Department of Energy. |b Office of Scientific and Technical Information. |4 dst. | |
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