Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
Show all synonyms
Select your origin of interest
we demonstrated that miR-424 regulated radiosensitivity by directly targeting aprataxin.
Whole-exome sequencing on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype.
Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4).
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Herein, we survey APTX function and the emerging cell biological, structural and biochemical data that has established a molecular foundation for understanding the APTX mediated deadenylation reaction. [review]
We describe an ataxia with oculomotor apraxia type 1 patient without a severe phenotype, who has a homozygous deletion of the complete coding region of APTX.
TDP1 and APTX take part in the mitochondrial DNA repair and are apparently being transported from the cell nucleus. (Review)
Structure-function studies of human APTX-RNA-DNA-AMP-Zn complexes define a mechanism for detecting and reversing adenylation at RNA-DNA junctions
Data suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie aprataxin dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (AOA1).
The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits.
Aprataxin is required for the normal repair rate of DNA single-strand breaks induced by genotoxic agents.
The patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation(APTX) show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation.
Aprataxin localizes to mitochondria and preserves mitochondrial function.
Loss of HNT3 in rad27Delta cells, which are deficient in long-patch base excision repair (LP-BER), resulted in synergistic sensitivity to H(2)O(2) and methylmethane sulfonate.
searched for aprataxin mutations in Greek patients with sporadic cerebellar ataxia where GAA expansion in frataxin gene has been excluded; no detectable point mutation or deletion was found in the aprataxin gene of all the patients
High aprataxin levels are associated with low irinotecan response in colorectal cancer.
Data demonstrate the presence of elevated levels of oxidative DNA damage in AOA1 cells coupled with reduced base excision and gap filling repair efficiencies indicative of a synergy between aprataxin, PARP-1, APE-1 and OGG1 in the DNA damage response.
Data show that the RASGRP1/APTX gene expression ratio was higher in the responder while the AKAP13 expression was higher in the non-responders.
The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported.
A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T.
Interaction with phosphorylated XRCC1 is a requirement for significant APTX recruitment to cellular DNA damage and enzymatic activity in cell extracts.
Study demonstrates a protective role of Aptx in vivo and suggests that its loss results in progressive accumulation of DNA breaks in the nervous system, triggering hallmarks of premature ageing, systemically.
neurological disorders associated with APTX mutations may be caused by the gradual accumulation of unrepaired DNA strand breaks resulting from abortive DNA ligation events
aprataxin participates in chromosomal single-strand break repair
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.
, forkhead-associated domain histidine triad-like protein
, forkhead-associated domain histidine-triad like protein
, forkhead-associated domain histidine-triad like