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 ?
Given an appropriate suite of diagnosis algorithms (Darwiche 1998b; de Kleer 1986; Forbus and de Kleer 1993; Reiter 1987), this model is all we need to identify faulty components given a set of LRU reports.
Parent company: Annex Business Media VP, Production/Group Publisher: Diane Kleer (dkleer@annexweb/com)
Johan de Kleer is a AAAI Fellow and IJCAI Computers and Thought winner and widely published in qualitative reasoning, model-based diagnosis and truth-maintenance systems.
Kleer, a cloud-based dental membership platform, has launched a pilot of its in-house dental platform.
In this scenario, portions of cool crust sink, exposing the incandescent magma underneath and causing a brightening in the infrared," Katherine de Kleer, a University of California, Berkeley, graduate student and the study's lead author, said in (https://www.
Kleer, MD, Department of Pathology and Laboratory Medicine, University of Michigan Hospital and Health Systems, 1500 E Medical Center Dr, Ann Arbor, MI 48109 (email: kleer@umich.
The products I examined were 210 Plastic Cleaner and Polish, Plexiclear, All Kleer Cleaner and Polish, Rain Away Glass Treatment, LP Acrylic Polish and Sealant, and Pilot's View Polish.
Hayes MJ, Thomas D, Emmons A, Giordano TJ, Kleer CG.
Team member Katherine de Kleer (University of California, Berkeley) says that the event unleashed an estimated 20 terawatts of energy, making it at least 10,000 times more powerful than the lava fountains spewed during the 2010 eruptions of Eyjaf-jallajokull in Iceland.
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.