Mitochondrial DNA analysis in a cohort of stillbirths with brainstem and cardiac conduction system abnormalities [0.03%]
线粒体DNA检测在脑干和心脏传导系统异常的死产病例中的应用分析研究
Mauro Lecca,Nicolò Mele,Patrizia Leonardi et al.
Mauro Lecca et al.
Stillbirth (SB) accounts for over 60% of perinatal deaths in high-income countries, with a significant portion of cases remaining unexplained following thorough anatomopathological investigation. Mitochondrial DNA (mtDNA) alterations were a...
Overexpression of miR-455-3p enhances mitophagy, synaptic and mitochondrial proteins in Alzheimer's disease [0.03%]
miR-455-3p过表达可增强阿尔茨海默病中的线粒体自噬、突触和线粒体蛋白水平
Jangampalli Adi Pradeepkiran,Madhuri Bandaru,Md Ariful Islam et al.
Jangampalli Adi Pradeepkiran et al.
MicroRNAs (miRNAs) are small non-coding RNAs that post-transcriptionally regulate gene expression, neural development and plasticity in Alzheimer's disease (AD). Our lab recently discovered molecular links between miR-455-3p and AD. miR-455...
Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning [0.03%]
印度原发性线粒体氧化磷酸化障碍队列的分子和临床综合分析：来自遗传学、神经影像学和机器学习的见解
Subhadeep Banerjee,Ritwick Mondal,Shramana Deb et al.
Subhadeep Banerjee et al.
Primary mitochondrial disorders are clinically and genetically heterogeneous and remain underdiagnosed in resource-limited settings. We performed a retrospective observational study (March 2016-January 2024) at a tertiary neurology center i...
Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease [0.03%]
复合杂合SDHA变异对神经病患儿线粒体功能的影响
Rocío Garrido-Moraga,Pablo Serrano-Lorenzo,María J Esteban-Amo et al.
Rocío Garrido-Moraga et al.
This study examines two rare compound heterozygous missense variants in the SDHA gene, c.1535G > A (p.R512Q) and c.1753C > T (p.R585W), identified in a pediatric patient presenting with neurological manifestations, including epilepsy, devel...
Mitochondrial dysfunction and mitochondrial unfolded protein response (UPRmt): unravelling their roles in autism spectrum disorder pathogenesis [0.03%]
线粒体功能障碍和线粒体未折叠蛋白反应（UPRmt）在自闭症谱系障碍发病机制中的作用探究
Merlin Jeejo,Mrudula Mathew,Kochupurackal P Mohanakumar et al.
Merlin Jeejo et al.
Autism spectrum disorders (ASD) is a complex neurodevelopmental condition characterized by a gamut of impairments in social interaction, communication, and behaviour. Emerging evidence implicates mitochondrial dysfunction, manifested throug...
Quantitative imaging of mitochondrial redox conditions at the single-organelle level [0.03%]
单个细胞器水平的线粒体氧化还原状态定量成像
Steffen Pöschel,Michael Müller
Steffen Pöschel
Mitochondria are morphologically and functionally heterogeneous and dynamically adapt to the current metabolic status of their hosting cell. Moreover, they are prominent sources but also sensitive targets of redox modulation and oxidative s...
Late-onset TK2 deficiency in adults: Long-term clinical outcomes of deoxynucleoside therapy [0.03%]
TK2缺陷病成人期起病的长期临床疗效观察及脱氧核苷治疗反应
Hacer Durmus,Asuman Gedikbaşı,Serdar Ceylaner et al.
Hacer Durmus et al.
Objective: To evaluate the long-term efficacy and safety of deoxynucleoside therapy in adult patients with late-onset thymidine kinase 2 deficiency (TK2d). ...
Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model [0.03%]
基于患者衍生的TWNK突变建立的小鼠模型再现了Perrault综合征的多系统病理特征
Wei Wang,Xiang Dong,Chun-Yu Cao et al.
Wei Wang et al.
Perrault syndrome (PS) is a rare autosomal-recessive disorder characterized by bilateral sensorineural hearing loss, ovarian dysgenesis in females, and variable neurological impairment. Pathogenic variants in TWNK, encoding the mitochondria...
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2 [0.03%]
从变异解释到结构发现：PARS2中一个新的结合锌的新域
Célia Hoebeke,Camille Engel,Claire-Marine Berat et al.
Célia Hoebeke et al.
Aminoacyl-tRNA synthetases (aaRSs) are multi-domain enzymes that, in addition to their catalytic and tRNA-anticodon-binding domains, may include clade-specific extra regions conferring unique properties. These extra domains are poorly chara...
Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene [0.03%]
与SFXN4基因相关线粒体疾病的表型描述和功能特征分析
Sarah Courtois,Chloé Angelini,Juliette Preud&#x;homme et al.
Sarah Courtois et al.
Sideroflexin 4 (SFXN4) is a transmembrane protein located in the inner membrane of the mitochondria. SFXN4 is also thought to be involved in the formation of iron-sulphur centres. Deleterious bi-allelic variants of the SFXN4 gene have been ...