Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
نویسندگان
چکیده
منابع مشابه
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Mitochondrial DNA depletion syndrome (MDS) is a severe recessively inherited disease of childhood. It manifests most often in infancy, is rapidly progressive and leads to early death. MDS is caused by an increasing number of nuclear genes leading to multisystemic or tissue-specific decrease in mitochondrial DNA (mtDNA) copy number. Thymidine kinase 2 (TK2) has been reported to cause a myopathic...
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Thymidine kinase 2 (TK2) deficiency in humans causes mitochondrial DNA (mtDNA) depletion syndrome. To study the molecular mechanisms underlying the disease and search for treatment options, we previously generated and described a TK2 deficient mouse strain (TK2) that progressively loses its mtDNA. The TK2 mouse model displays symptoms similar to humans harboring TK2 deficient infantile fatal en...
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Thymidine kinase 2 (TK2) deficiency in humans causes mitochondrial DNA (mtDNA) depletion syndrome. To study the molecular mechanisms underlying the disease and search for treatment options, we previously generated and described a TK2 deficient mouse strain (TK2(-/-)) that progressively loses its mtDNA. The TK2(-/-) mouse model displays symptoms similar to humans harboring TK2 deficient infantil...
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ژورنال
عنوان ژورنال: Brain
سال: 2008
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awn236