نتایج جستجو برای: aptx gene
تعداد نتایج: 1141372 فیلتر نتایج به سال:
OBJECTIVE The present study was designed to examine the anticancer effect of Traditional Chinese Medicine of polyphyllin I (PPI) and evodiamine (EVO) on freshly-removed gastric tumor tissues. METHODS Sixty freshly-removed gastric tumor tissues were collected. Their sensitivity to PPI, EVO, platinum (Pt), 5-FU, irinotecan (CPT-11) were determined by histoculture drug response assay (HDRA). Tho...
Dear Editor, Ataxia with oculomotor apraxia type 1 (AOA1, MIM 208920) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, polyneuropathy, oculomotor apraxia, hypoalbuminemia, and hypercholesterolemia.1 It is caused by pathogenic variants of APTX, which encodes the aprataxin protein that is involved in DNA strand-break repair.1 We recruited a consanguineous family ...
The histidine triad proteins (HITs) constitute a large and ubiquitous superfamily of nucleotide hydrolases. The human histidine triad nucleotide-binding proteins (hHints) are a distinct class of HITs noted for their acyl-AMP hydrolase and phosphoramidase activity. The first high-resolution crystal structures of hHint2 with and without bound AMP are described. The differences between hHint2 and ...
3rd International Genome Dynamics in Neuroscience Conference: "DNA repair and neurological disease".
Ataxia telangiectasia (ATM), AT like disorder (MRE11), AOA1 (APTX) and AOA2 (SETX) in the UK – variability of the neurological, genetic and cellular phenotypes 19.05-20.00 Jan Hoeijmakers (Netherlands) The link between DNA damage, global and transcription coupled repair and neurodegeneration Mark O'Driscoll (UK) Defective genome stability and impaired neurogenesis in congenital human disorders ...
Aprataxin tumor levels predict response of colorectal cancer patients to irinotecan-based treatment.
PURPOSE Irinotecan (CPT11) treatment significantly improves the survival of colorectal cancer patients and is routinely used for the treatment of these patients, alone or in combination with other agents. However, only 20% to 30% of patients show an objective response to irinotecan, and there is great need for new molecular markers capable of identifying the subset of patients who are unlikely ...
Ataxia oculomotor apraxia-1 is a neurological disorder that arises from mutations in the gene encoding the protein aprataxin. A recent study demonstrates that aprataxin is critical for the processing of obstructive DNA termini, suggesting a broader role for DNA single-strand break repair in neurodegenerative disease.
In 2001, we described six patients with cerebellar ataxia and severe deficiency of coenzyme Q10 (CoQ10, ubiquinone) in skeletal muscle [1]. Within one year, we described 13 additional patients [2]; therefore, we suspected this was not a very rare syndrome. Twelve years after our original report, cerebellar ataxia and atrophy has emerged as the most common clinical presentation of CoQ10 deficien...
Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic disorder that is characterized clinically by the childhood onset of progressive cerebellar ataxia, oculomotor apraxia (OMA), and peripheral axonal sensorimotor neuropathy.1 Dystonia, chorea, and cognitive impairment are commonly associated symptoms, and hypoalbuminemia and hypercholesterolemia are often ...
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