Skip to search formSkip to main contentSkip to account menu

APTX gene

Known as: APRATAXIN, FLJ20157, APTX 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Impact of DNA3′pp5′G capping on repair reactions at DNA 3′ ends
Significance When DNA breakage results in a 3′-PO4 terminus, the end is considered “dirty” because it cannot prime repair… 
Highly Cited
2011
Highly Cited
2011
Polynucleotide Kinase and Aprataxin-like Forkhead-associated Protein (PALF) Acts as Both a Single-stranded DNA Endonuclease and a Single-Stranded DNA 3′ Exonuclease and Can Participate in DNA End…
Background: PALF binds to the NHEJ protein XRCC4. Results: PALF is a single-stranded DNA endonuclease and 3′ exonuclease. PALF… 
Review
2011
Review
2011
Hits, Fhits and Nits: beyond enzymatic function.
2011
2011
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia-oculomotor apraxia 1 is a recessively inherited ataxia… 
Review
2009
Review
2009
Short-patch single-strand break repair in ataxia oculomotor apraxia-1.
AOA1 (ataxia oculomotor apraxia-1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP… 
2007
2007
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells
2007
2007
Purkinje Cell Loss in the Cerebellar Flocculus in Patients with Ataxia with Ocular Motor Apraxia Type 1/Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia
We genetically screened patients with ataxia with ocular motor apraxia type 1 (AOA1)/early-onset ataxia with ocular motor apraxia… 
Highly Cited
2004
Highly Cited
2004
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein
Early‐onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is an autosomal recessive neurodegenerative disorder… 
2004
2004
Loss of function mechanism in aprataxin-related early-onset ataxia.
Highly Cited
2002
Highly Cited
2002
Adenosine Monophosphoramidase Activity of Hint and Hnt1 Supports Function of Kin28, Ccl1, and Tfb3* 210
The histidine triad superfamily of nucleotide hydrolases and nucleotide transferases consists of a branch of proteins related to… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)