인문학
사회과학
자연과학
공학
의약학
농수해양학
예술체육학
복합학
DBpia AI
AI 에이전트
AI 아이디어
AI 리더
AI 뷰어
Citeasy
크롬 서지관리 다운로드
지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
초록·키워드
Mitochondria are cellular organelles that supply energy for the entire human body and its function.Their function is not only crucial for our daily lives but also depends on the maintenance of their semi-autonomous genome.Defects of the mitochondrial genome result in the development of human mitochondrial diseases, which range from debilitating myopathies to devastating early-onset multisystemic syndromes with short life expectancy (e.g., Alpers syndrome).Defects in mitochondrial DNA (mtDNA) maintenance have also been linked to other prominent and world-wide disorders such as Parkinson's and Alzheimer's, autism spectrum disorders, diabetes, various cancer types, and aging.These diseases affect not only a person's daily life but can lead to either a rapid or slow decline of health.Notably, there is currently no cure available for any of the mtDNA associated diseases.The major cause of mtDNA maintenance defects are malfunctions of the mtDNA replication machinery (replisome).Twinkle helicase is the key component of the mitochondrial replisome and several mutations to its residues have been associated with the pathogenesis of human disorders.The role of the N-terminal domain (NTD) of Twinkle is elusive and molecular basis of conditions developing upon mutations to its residues are not clear.Here we sought to characterize the biochemical and kinetic implication of selected pathogenic mutations in NTD (G92S, K184E, and R192C), employing biolayer interferometry and classical biochemical approaches.Our results hint on the biochemical consequences of the mutations and provide a novel approach to study concerted action of the mitochondrial replisome components.
인공지능 문자 인식 모델을 통해 추출된 텍스트로, 일부 오타나 오류가 포함될 수 있으나 지속적으로 개선 중입니다.
오류를 발견하셨다면 해당 부분을 드래그한 후 ' 를 통해 신고해주세요.
오류를 발견하셨다면 해당 부분을 드래그한 후 ' 를 통해 신고해주세요.
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