proteinopathy

proteinopathy

, proteopathy (prō″tē-nop′ă-thē) (prōt″ē-op′ă-thē) [ protein, -pathy + -pathy]
Any disease or condition that results from the abnormal synthesis, folding, post-translational modification, or deposition of protein in cells or tissues.
References in periodicals archive ?
The suite enables the discovery, development, and commercialization of orphan drugs based on disease severity, gene ontology, disease pathways, proteinopathy, standard of care, emerging innovation, enabling technologies, and current drug pipeline - all of which are crucial when addressing the high unmet need of patients with rare and ultra rare diseases.
Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein.
20) In most FTLDs, hippocampal neuronal loss and gliosis is less striking than in AD, unless there is also hippocampal sclerosis, which is most often found in frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kDa (TDP-43) proteinopathy (FTLD-TDP).
Stern and coworkets have also found a widespread TDP-43 (transactive response DNA-binding protein of 43 kDa) proteinopathy associated with a progressive motor neuron disease that looks much like sporadic amyotrophic lateral sclerosis (J.
Partners will benefit from real-time multi-factorial analytics to design target-indication product concepts for rare diseases based on severity, epidemiology, gene ontology, pathways, proteinopathy, standard of care, emerging innovation, enabling technologies and drug pipeline.
Previous studies have shown that TPD-43 proteinopathy, which involves malformed proteins, is common in both sporadic and familial ALS and FTD.
This cluster of symptoms has recently been recognized as a unique disorder called multisystem proteinopathy.