نتایج جستجو برای: aoa1
تعداد نتایج: 38 فیلتر نتایج به سال:
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...
Aborted DNA ligation events in eukaryotic cells can generate 5'-adenylated (5'-AMP) DNA termini that can be removed from DNA by aprataxin (APTX). Mutations in APTX cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (AOA1). APTX is found in the nuclei and mitochondria of eukaryotic cells. Depletion of APTX causes mitochondrial dysf...
Letter Mutations in genes involved in singlestrand break repair (SSBR) have been linked to hereditary cerebellar ataxias. Notably, Ataxia-oculomotor apraxia 1 (AOA1 (MIM: 2 08 920)), Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1 (MIM: 6 07 250)) and Ataxia-oculomotor apraxia 4 (AOA4 (MIM: 616267616267616267)) are associated with mutations in APTX (MIM: 606350), TDP1 (MIM: 607198) and P...
The inherent complex and pleiotropic phenotype of mitochondrial diseases poses a significant diagnostic challenge for clinicians as well as an analytical barrier for scientists. To overcome these obstacles we compiled a novel database, www.mitodb.com, containing the clinical features of primary mitochondrial diseases. Based on this we developed a number of qualitative and quantitative measures,...
Oxidative DNA damage is one of the earliest detectable events in several neurodegenerative diseases, often preceding the onset of the clinical symptoms. Moreover, neurons in the adult human brain can re-enter the cell division cycle, likely allowing DNA repair. Impairments of DNA repair pathways are reported in neurons of patients suffering from one of several neurodegenative diseases and might...
T he cerebellar ataxias are a heterogeneous group of neurodegenerative disorders, characterised by symptoms and signs of cerebellar degeneration, pyramidal and extrapyramidal features, and variable polyneuropathy. Prominent clinical features are signs of cerebellar ataxia, such as uncoordinated gait and uncontrolled co-ordination of hand, speech, and eye movements, while (extra) pyramidal signs...
T he cerebellar ataxias are a heterogeneous group of neurodegenerative disorders, characterised by symptoms and signs of cerebellar degeneration, pyramidal and extrapyramidal features, and variable polyneuropathy. Prominent clinical features are signs of cerebellar ataxia, such as uncoordinated gait and uncontrolled co-ordination of hand, speech, and eye movements, while (extra) pyramidal signs...
DNA ligase I (LIG1) completes the base excision repair (BER) pathway at last nick-sealing step after polymerase (pol) ? gap-filling synthesis. However, mechanism by which LIG1 fidelity mediates faithful substrate–product channeling and ligation of intermediates final steps BER remains unclear. We previously reported that pol 8-oxo-2'-deoxyribonucleoside 5'-triphosphate insertion confounds LIG1,...
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