Ontology highlight
ABSTRACT:
SUBMITTER: Roland BP
PROVIDER: S-EPMC4816394 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Roland Bartholomew P BP Zeccola Alison M AM Larsen Samantha B SB Amrich Christopher G CG Talsma Aaron D AD Stuchul Kimberly A KA Heroux Annie A Levitan Edwin S ES VanDemark Andrew P AP Palladino Michael J MJ
PLoS genetics 20160331 3
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-associ ...[more]