Table of Contents
What does FUS gene stand for?
RNA-binding protein FUS
RNA-binding protein FUS/TLS (FUused in Sarcoma/Translocated in LipoSarcoma), also known as heterogeneous nuclear ribonucleoprotein P2 is a protein that in humans is encoded by the FUS gene.
Is FUS a gene?
FUS (FUS RNA Binding Protein) is a Protein Coding gene. Diseases associated with FUS include Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia and Tremor, Hereditary Essential, 4.
What is HDAC1 gene?
Entrez Gene Summary for HDAC1 Gene Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex.
What is fused in sarcoma?
Fused in sarcoma (FUS) is a DNA/RNA binding protein containing 526 amino acids. The FUS gene was initially identified as a fusion oncogene on chromosome 16 in human liposarcoma [1], the translocation and fusion of which to transcription factors results in strong transcriptional activation of the proteins.
How does tdp43 cause ALS?
Under prolonged stress conditions, phase-separated TDP-43 transitions from a liquid-like droplet to form gel-like inclusions inhibiting their ability to dissociate [110,111,112]. These gel-like inclusions eventually accumulate several hallmarks the TDP-43 inclusions seen in ALS [61, 108, 109, 111].
How does FUS cause ALS?
Significance. Mutations in fused in sarcoma (FUS) contribute to a subset of familial amyotrophic lateral sclerosis (ALS). ALS-linked mutations cause a liquid–liquid phase separation of FUS protein, induce cytoplasmic inclusions in cells, and interfere with RNA metabolism pathways.
What is SOD1 gene?
The SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals.
What do HDAC inhibitors do?
Histone deacetylase (HDAC) inhibitors are a relatively new class of anti-cancer agents that play important roles in epigenetic or non-epigenetic regulation, inducing death, apoptosis, and cell cycle arrest in cancer cells.
What does the FUS protein do?
Fused in sarcoma/translocated in liposarcoma (FUS/TLS or FUS) is a multifunctional DNA-/RNA-binding protein that is involved in a variety of cellular functions including transcription, protein translation, RNA splicing, and transport.
How is the FUS protein regulated?
Mechanistically FUS and EWS protein expression is regulated at the post-transcriptional level during neuron differentiation and brain development. Moreover, we identified miR-141 as a key regulator of these FET proteins that modulate their expression levels in differentiating neuronal cells.
Does SOD1 cause ALS?
Abstract. Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamilial heterogeneity.
What does SOD1 mutation do?
Does everyone have C9ORF72?
C9orf72 mutation is present in approximately 40% of familial ALS and 8-10 % of sporadic ALS. It is currently the most common demonstrated mutation related to ALS – far more common than SOD1 or TDP-43.
What type of protein is C9ORF72?
C9ORF72 Is a DENN Protein Regulating Rab-GTPases DENN proteins comprised an N-terminal longin domain, followed by DENN and C-terminal alpha domains (Zhang et al., 2012). These three domains encompass aa 23–150, 212–312, and 313–481 of the human C9-long isoform (Xiao et al., 2016).
What does KHDRBS1 stand for?
KHDRBS1 (KH RNA Binding Domain Containing, Signal Transduction Associated 1) is a Protein Coding gene. Diseases associated with KHDRBS1 include Premature Menopause and X-Linked Hereditary Ataxia . Among its related pathways are Signaling by PTK6 and Signal Transduction .
What are the GO annotations related to the KHDRBS2 gene?
Among its related pathways are Signaling by PTK6 and Signal Transduction . Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding . An important paralog of this gene is KHDRBS2.
What is the pathophysiology of KHDRBS1?
Diseases associated with KHDRBS1 include Premature Menopause and X-Linked Hereditary Ataxia . Among its related pathways are Signaling by PTK6 and Signal Transduction .
How many functional associations are there in KHDRBS1?
KHDRBS1 has 7,208 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 83 datasets.