Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Septins are highly conserved filamentous proteins first characterized in budding yeast and subsequently identified in must eukaryotes. Septins can bind and hydrolyze GTP, which is intrinsically related to their formation of septin hexamers and functional protein interactions. The human septin family is composed of 14 loci, SEPT1-SEPT14, which encode dozens of different septin proteins. Their central GTPase and polybasic domain regions are highly conserved but they diverge in their N-terminus and/or C-terminus. The mechanism by which the different isoforms are generated is not yet well understood, but one can hypothesize that the use of different promoters and/or alternative splicing could give rise to these variants. Septins perform diverse cellular functions according to tissue expression and their interacting partners. Functions identified to date include cell division, chromosome segregation, protein scaffolding, cellular polarity, motility, membrane dynamics, vesicle trafficking, exocytosis, apoptosis, and DNA damage response. Their expression is tightly regulated to maintain proper filament assembly and normal cellular functions. Alterations of these proteins, by mutation or expression changes, have been associated with a variety of cancers and neurological diseases. The association of septins with cancer results from alterations of expression in solid tumors or translocations in leukemias [mixed lineage leukemia (MLL)]. Expression changes in septins have also been associated with neurological conditions such as Alzheimer's and Parkinson's disease, as well as retinopathies, hepatitis C, spermatogenesis and Listeria infection. Pathogenic mutations of SEPT9 were identified in the autosomal dominant neurological disorder hereditary neuralgic amyotrophy (HNA). Human septin research over the past decade has established their importance in cell biology and human disease. Further functional characterization of septins is crucial to our understanding of their possible diagnostic, prognostic, and therapeutic applications.
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PMID:Conquering the complex world of human septins: implications for health and disease. 2023 26

Septins are a highly conserved family of GTPases which are identified in diverse organisms ranging from yeast to humans. In mammals, nervous tissues abundantly contain septins and associations of septins with neurological disorders such as Alzheimer's disease and Parkinson's disease have been reported. However, roles of septins in the brain development have not been fully understood. In this study, we produced a specific antibody against mouse SEPT1 and carried out biochemical and morphological characterization of SEPT1. When the expression profile of SEPT1 during mouse brain development was analyzed by western blotting, we found that SEPT1 expression began to increase after birth and the increase continued until postnatal day 22. Subcellular fractionation of mouse brain and subsequent western blot analysis revealed the distribution of SEPT1 in synaptic fractions. Immunofluorescent analyses showed the localization of SEPT1 at synapses in primary cultured mouse hippocampal neurons. We also found the distribution of SEPT1 at synapses in mouse brain by immunohistochemistry. These results suggest that SEPT1 participates in various synaptic events such as the signaling, the neurotransmitter release, and the synapse formation/maintenance.
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PMID:Biochemical and morphological characterization of SEPT1 in mouse brain. 3214 12