Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
نویسندگان
چکیده
منابع مشابه
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial translation. However, the number of patients with pathogenic mutations is small, implying that nuclear defects of mitochondrial translation are either underdiagnosed or intraute...
متن کاملHIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
BACKGROUND Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine catabolism. Multiple mitochondrial respiratory chain (RC) enzyme deficiencies can arise from a number of mechanisms, including defective maintenance or expression of mitochondrial DNA. Impaired biosynthesis of iron-sulphur clusters and...
متن کاملAltered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency, stand out by showing spontaneous recovery, and provide the key ...
متن کاملa corpus-hased study of units of translation in english-persian literary translation
چکیده ندارد.
15 صفحه اولinvestigating the integration of translation technologies into translation programs in iranian universities: basis for a syllabus design in translation technology
today, information technology and computers are indispensable tools of any profession and translation technologies have become an indispensable part of translator’s workstation. with the increasing demands for high productivity and speed as well as consistency and with the rise of new demands for translation and localization, it is necessary for translators to be familiar with market demands an...
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ژورنال
عنوان ژورنال: Brain
سال: 2010
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awq320