APTX

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APTX

A gene on chromosome 9p13.3 that encodes aprataxin, a DNA-binding protein involved in single- and double-stranded DNA break repair and base excision repair. It resolves abortive DNA ligation intermediates, formed either at base excision sites or when DNA ligases try to repair non-ligatable breaks induced by reactive oxygen species.
 
Molecular pathology
Defects of APTX cause ataxia-oculomotor apraxia syndrome, and are a cause of coenzyme Q10 deficiency (COQ10D).
References in periodicals archive ?
This research aims to provide a generalized building FDD system like the general diagnostic engine (de Kleer and Williams 1987) so that methods from other FDD research can be integrated to gradually improve its performance and capability.
Kleer is a cloud-based platform that enables dentists to design and manage their own Membership Plan and offer it directly to their patients.
I did observe that one cleaning and polishing product, All Kleer, had a note calling for removing "excess dirt or grit on the windshield to prevent scratching." I thought that made good sense for any of the products and did not disqualify it as a cleaner.
Media attention focused most on his comment that "The fact that this filth is being created now, when the link between carbon emissions and global warming is so obvious, reflects negligence and greed." It was part of Tutu's keynote address at a two-day conference, organized by the Athabasca Chipewyan First Nation (ACFN) and the law firm Olthuis Kleer Townsend.
The event was sponsored by the Athabasca Chipewyan First Nation and the law firm of Olthuis Kleer Townshend LLP.
The SMS Audio product line also includes the STREET by 50 Wired Over-Ear headphones, (available in limited edition colors), as well as STREET by 50 In-Ear Wired, Wired DJ Pro Performance, and SYNC by 50 Over-Ear Wireless headphones--which integrate Kleer wireless technology to allow up to four listeners to rock simultaneously from a single source.
The fact that the book containing these theoretical innovations is a hundred years old this year makes commemoration of this centenary an important historical event (Kleer 2000; Perrotta 2006).
Evangelopoulos, Barbara Kleer, Hendrik Kohlhof, Michael Schar, Stefan Eggli, and Sandro Kohl
The RS 220 uses Kleer's RE-based wireless streaming technology--not Wi-Fi or Bluetooth--and is intended for your home theater setup.
One such implementation is the TDK WR 700 that uses Kleer technology which promises to push transmission to lossless CD quality.