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| 1 | Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing显示文摘Diagnosis of mitochondrial DNA(mt DNA)disorders has traditionally been focused on the presence of point mutations and large deletions.However,deviations in mitochondrial abundance or mt DNA copy number can also be associated with many physiological and pathological conditions(Bai and Wong,2005).For example,reduced mt DNA copy number could be a result of defective mt DNA biosynthesis or mt DNA replication and is | Rachel Brockhage Jesse Slone Zeqian Ma Madhuri R.Hegde C.AlexANDer Valencia Taosheng Huang | 2018 | Journal of Genetics and Genomics2018，45，6： | 1 |
| 2 | The current landscape for the treatment of mitochondrial disorders显示文摘The mitochondrial organelle is crucial to the energy metabolism of the eukaryotic cell. Defects in mitochondrial function lie at the core of a wide range of disorders, including both rare primary mitochondrial disorders and more common conditions such as Parkinson's disease and diabetes. Inherited defects in mitochondrial function can be found in both the nuclear genome and the mitochondrial genome, with the latter creating unique challenges in the treatment and understanding of disease passed on through the mitochondrial genome. In this review, we will describe the limited treatment regimens currently used to alleviate primary mitochondrial disorders, as well as the potential for emerging technologies(in particular, those involving direct manipulation of the mitochondrial genome) to more decisively treat this class of disease. We will also emphasize the critical parallels between primary mitochondrial disorders and more common ailments such as cancer and diabetes. | Jesse Slone Baoheng Gui Taosheng Huang | 2018 | Journal of Genetics and Genomics2018，45，2： | 1 |
| 3 | Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations显示文摘Genetic mitochondrial disorders are a heterogenous group of multi-system disorders caused by an imbalance in mitochondrial function(Moggio et al.,2014;Wallace,2018).In contrast to the nuclear genome,each cell contains hundreds,or even thousands,of mtDNA molecules(Veltri et al.,1990;Calvo et al.,2006).Thus,a mixture of different mtDNA sequences can co-exist within the same individual,a situation referred to as he terop las my.The level of heteroplasmy in an individual often affects the penetrance and phenotypic severity of the diseases.Consequently,detection of sequence heteroplasmy is essential for the proper clinical interpretation of mitochondrial diseases(Stewart and Chinnery,2015). | Ammar Husami Jesse Slone Jenice Brown Meghan Bromwell C.Alexander Valencia Taosheng Huang | 2020 | Journal of Genetics and Genomics2020，47，3： | 0 |
| 4 | PINK1-mediated Drp1^(S616) phosphorylation modulates synaptic development and plasticity via promoting mitochondrial fission显示文摘Dynamic change of mitochondrial morphology and distribution along neuronal branches are essential for neural circuitry formation and synaptic efficacy.However,the underlying mechanism remains elusive.We show here that Pink1 knockout(KO)mice display defective dendritic spine maturation,reduced axonal synaptic vesicles,abnormal synaptic connection,and attenuated long-term synaptic potentiation(LTP).Drp1 activation via ^(S616) phosphorylation rescues deficits of spine maturation in Pink1 KO neurons. | Qingtao Gao Runyi Tian Hailong Han Jesse Slone Caifang Wang Xiao Ke Tongmei Zhang Xiangyu Li Yuhong He Panlin Liao Fang Wang Ye Chen Shiqing Fu Kexuan Zhang Fangfang Zeng Yingxuan Yang Zhuo Li Jieqiong Tan Jiada Li Youming Lu Taosheng Huang Zhonghua Hu Zhuohua Zhang | 2022 | Signal Transduction and Targeted Therapy2022，7，5： | 0 |
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