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SETX encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. Zusätzlich bieten wir Ihnen Senataxin Antikörper (114) und Senataxin Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
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Expression of AOA2-causative form of SETX in Drosophila muscles resulted in an alteration of translational repression of Elav.
The pan-neuronal expression of wild-type or mutant forms of human senataxin induced morphological plasticity at neuromuscular junction synapses.
Novel compound heterozygous mutations of SETX in Chinese AOA2 pedigree were identified, which broaden the mutation spectrum of SETX.
The role of senataxin in regulating gene expression on a genome-wide scale in Ataxia oculomotor apraxia 2 neurons is described.
these data indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and the development of neurologic disorders.
AOA2 with myoclonus associated with mutations in SETX and AFG3L2 (zeige AFG3L2 ELISA Kits)
BRCA1/SETX complexes support a DNA repair mechanism that addresses R-loop-based DNA damage at transcriptional pause sites.
Results identify novel genes related to senataxin function in normal and disease states.
genetic variations in the senataxin gene may contribute to Alzheimer's disease pathogenesis in the Taiwanese Han population.
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
These data support key roles for senataxin in coordinating meiotic crossing-over with transcription and in gene silencing to protect the integrity of the genome.
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).
, amyotrophic lateral sclerosis 4
, probable helicase senataxin-like
, SEN1 homolog
, amyotrophic lateral sclerosis 4 protein
, probable helicase senataxin
, amyotrophic lateral sclerosis 4 homolog
, amyotrophic lateral sclerosis 4 protein homolog
, DEAxQ-box helicase
, tRNA splicing endonuclease regulator 1