title: [RNA processing TDP-43 protein has a main pathological role in FTLD and ALS].
abstract: TDP-43 is mainly a nuclear protein belonging to the heterogeneous ribonucleoproteins family. It plays a crucial role in the regulation of gene transcription and RNA processing. In 2006, TDP-43 was characterized as the main component of ubiquitin-positive inclusions observed in Frontotemporal Lobar Degeneration (FTLD) and Amyotrophic Lateral Sclerosis (ALS) cases. Since then, its central role in a number of neurodegenerative diseases was confirmed, originating the TDP-43 proteinopathies term. Pathological TDP-43 redistributes and accumulates in the cytoplasm forming toxic aggregates. Plethora of animal models recapitulating features typical for human TDP-43 proteinopathies has been generated. However, the mechanism involving TDP-43 and causing functional disturbances, like dementia and motoneurons degeneration, remains unknown. Loss and gain of function hypotheses are proposed, but they still need to be verified.
authors.forename: Paulina
authors.initials: P
authors.lastname: Koza
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000503:physiopathology*; D004268:DNA-Binding Proteins / Q000502:physiology*; D057174:Frontotemporal Lobar Degeneration / Q000503:physiopathology*; D006801:Humans; D009474:Neurons / Q000473:pathology*; D012323:RNA Processing, Post-Transcriptional / Q000502:physiology*; D014158:Transcription, Genetic / Q000502:physiology*
chemical_list: D004268:DNA-Binding Proteins