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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 (show APEX1 Proteins)/NRF1 (show NFE2L1 Proteins)/NRF2 (show GABPA Proteins) 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 (show TDP1 Proteins) 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 (show APRT Proteins)-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.
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