Erratum to: BAK, BAX, and NBK/BIK Proapoptotic Gene Alterations in Iranian Patients with Ataxia Telangiectasia
نویسندگان
چکیده
منابع مشابه
bak, bax and nbk/bik pro-apoptotic gene alterations in iranian patients with ataxia telangiectasia
ataxia telangiectasia (at) is an autosomal recessive multi-system disorder, characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and increased susceptibility to malignancies. this study was designed to study the role of pro-apoptotic bak, bax, nbk/bik genes in a group of patients with at to elucidate the possible role of these genes in progr...
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Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. The ATM gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia (AT). The gene mutated in AT, which has been designated as the ATM gene, encodes a large protein kinase with a PI...
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Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated mutational spectrum in Polish AT patients. As a result of molecular analysis, the status of recurrent...
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BAX and BAK operate at both the mitochondria and endoplasmic reticulum (ER) to regulate the intrinsic apoptotic pathway. An unresolved issue is whether any caspases can be activated in response to intrinsic apoptotic signals in the absence of BAX and BAK. Following organelle-specific intrinsic stress signals, including DNA damage and ER stress, we detected no activation of CARD-containing caspa...
متن کاملInvestigation of tRNALys/Leu and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients
INTRODUCTION Ataxia telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease. AT is the result of mutations in the AT-mutated (ATM) gene. ATM protein is required for radiation-induced apoptosis and acts before mitochondrial collapse. The tRNA genes are considered one of the hot spots for mutations causing mitochondrial disorders. Due to the important role of...
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ژورنال
عنوان ژورنال: Journal of Clinical Immunology
سال: 2010
ISSN: 0271-9142,1573-2592
DOI: 10.1007/s10875-010-9390-9