نتایج جستجو برای: aptx gene

تعداد نتایج: 1141372  

Behnam Kamalidehghan, Maryam Sedghi, Massoud Houshmand, Narges Nouri, Nayereh Nouri, Omid Aryani,

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

2015
Mansour Akbari Peter Sykora Vilhelm A. Bohr

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...

Journal: :iranian biomedical journal 0
نیره نوری nayereh nouri نرگس نوری narges nouri امید آریانی omid aryani بهنام کمالی دهقان behnam kamalidehghan مریم صدقی maryam sedghi مسعود هوشمند massoud houshmand

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

2017
Jingga Inlora M Reza Sailani Hamidreza Khodadadi Ahmad Teymurinezhad Shinichi Takahashi Jonathan A Bernstein Masoud Garshasbi Michael P Snyder

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomot...

2015
Melike Çağlayan Rajendra Prasad Rachel Krasich Matthew J. Longley Kei Kadoda Masataka Tsuda Hiroyuki Sasanuma Shunichi Takeda Keizo Tano William C. Copeland Samuel H. Wilson

Mitochondrial aprataxin (APTX) protects the mitochondrial genome from the consequence of ligase failure by removing the abortive ligation product, i.e. the 5'-adenylate (5'-AMP) group, during DNA replication and repair. In the absence of APTX activity, blocked base excision repair (BER) intermediates containing the 5'-AMP or 5'-adenylated-deoxyribose phosphate (5'-AMP-dRP) lesions may accumulat...

Journal: :Iranian biomedical journal 2012
Nayereh Nouri Narges Nouri Omid Aryani Behnam Kamalidehghan Maryam Sedghi Massoud Houshmand

BACKGROUND Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. METHODS In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

Journal: :Clinical Immunology 2021

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which involved DNA single-strand break repair (SSBR). The neurological abnormalities associated EAOH are similar to those observed patients ataxia-telangiectasia. However, immunological have not been described. In this study, we rep...

Journal: :iranian journal of child neurology 0
parvaneh karimzadeh 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran 2. pediatric neurology department, mofid children’s hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran simin khayyatzadeh 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran masoud houshmand 3. department of medical genetic, national institute for genetic engineering and biotechnology(nigeb), tehran, iran mohammad ghforani 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran 2. pediatric neurology department, mofid children’s hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran

ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...

2013
Lorenzo Nanetti Simona Cavalieri Viviana Pensato Alessandra Erbetta Davide Pareyson Marta Panzeri Giovanna Zorzi Carlo Antozzi Isabella Moroni Cinzia Gellera Alfredo Brusco Caterina Mariotti

OBJECTIVES/BACKGROUND Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms, the patients also share common clinical signs, such as the presence of cereb...

Journal: :The Journal of biological chemistry 2005
Heather F Seidle Pawel Bieganowski Charles Brenner

Ataxia-oculomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mutations in the APTX gene, encoding Aprataxin, which contains three conserved domains. The forkhead-associated domain of Aprataxin mediates protein-protein interactions with molecules that respond to DNA damage, but the cellular phenotype of the disease does not appear to be consistent w...

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