Results 71 to 80 of about 15,895 (241)

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families [PDF]

, 2010
Background Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2.
Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer, Michael B Russell, H Skre, PJ Dyck, AE Harding, G Nicholson, AE Harding, K Kijima, VH Lawson, K Verhoeven, A Santel, M Rojo, H Skre, H Skre, H Skre, PJ Dyck, S Rozen, JT den Dunnen, NK Aarskog, S Züchner, C Neusch, K Engelfried, I Banchs, D Zhu, KW Chung, S Züchner   +28 more
core   +1 more source

ELABELA Targets Mitochondria to Modulate Heart Development

Advanced Science, EarlyView.
The role of peptide ELABELA (ELA) in cardiomyocyte apoptosis and congenital heart disease (CHD) is unclear. ELA deficiency caused cardiomyocyte apoptosis and CHD. A novel ELA‐APJ‐AKT‐BCL2/BAX axis in regulating mitochondrial function and contributing to CHD pathogenesis was established.
Jian Wang, Qingjie Wang, Zhikang Xu, Shuang Zhou, Yue Zhou, Junjie Yang, Lingfeng Tong, Zhuo Meng, Mei Yang, Wen Zhao, Tie Yang, Hualin Wang, Jun Zhang, Rubin Tan, Lei Wang, Yuqiang Huang, Bin Zhou, Sun Chen, Bing Zhang, Jinxiang Yuan, Jianyuan Zhao, Alex F. Chen, Kun Sun   +22 more
wiley   +1 more source

Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction [PDF]

, 2015
Mitochondrial dynamics is a term that encompasses the movement of mitochondria along the cytoskeleton, regulation of their architecture, and connectivity mediated by tethering and fusion/fission.
Antonio Zorzano, Marc Claret
core   +2 more sources

Mitochondrial Enzymes Mimetic Ultrasmall Palladium Nanozymes Prevent Senescence and Neurodegeneration Through Metabolic Reprogramming

Advanced Science, EarlyView.
Simply constructed polyvinylpyrrolidone (PVP) modified palladium nanoparticles (PdP NPs) as cytochrome c oxidase (CcO) and superoxide dismutase (SOD) mimic are promising multifunctional nanoreactors to boost mitochondrial respiration chain function and refine homeostasis via regulation of mitochondrial dynamics and proteostasis sensor UPRmt, which ...
Wenshu Cong, Haiming Jing, Zinan Li, Wenjing Zhang, Nan Zhang, Yingqiu Xie, Shan Gao, Yuanyu Huang, Junyu Ning   +8 more
wiley   +1 more source

EARLY-ONSET STROKE ASSOCIATED WITH A MUTATION IN MITOFUSIN 2

Neurology, 2008
Mitofusin 2 ( MFN2 ) gene encodes an outer mitochondrial membrane protein which plays a central role in mitochondrial fusion.1 Mutations in the MFN2 gene have recently been reported to cause up to 33% of axonal peripheral neuropathies which in some cases involved the CNS.2,3 Since an initial study, which linked MFN2 mutations with Charcot-Marie-Tooth ...
K W, Chung, S Y, Cho, S J, Hwang, K H, Kim, J H, Yoo, O, Kwon, S M, Kim, I N, Sunwoo, S, Züchner, B O, Choi   +9 more
openaire   +3 more sources

T‐Cell Exhaustion in the Tumor Microenvironment: Subcellular Dysfunction, Pan‐Cancer Characteristics, and Therapeutic Interventions

Advanced Science, EarlyView.
This study elucidates the mechanisms of subcellular multidimensional collapse in exhausted T cells. By specifically targeting the nucleus, mitochondria, and endoplasmic reticulum, strategic interventions can effectively remodel the compromised organelle network. This integrated approach drives comprehensive T cell resuscitation, ultimately establishing
Mingxing Wang, Wanhui Dong, Jian Chen, Zhangjie Zhou, Shujuan Fu, Tingting Wu, Haiyan Jiang, Zhiying Wang, Zhixian Zhong, Yi Zhong   +9 more
wiley   +1 more source

Mitofusin-2 acts as biomarker for predicting poor prognosis in hepatitis B virus related hepatocellular carcinoma

Infectious Agents and Cancer, 2018
Objective To investigate the expression of Mitofusin-2 (MFN2) in HCC tissues and its role in the development of HCC. Methods A total of 107 HCC specimens were collected for tissue microarray analysis and immunohistochemistry (IHC) analysis.
Xiumei Wang, Youde Liu, Jing Sun, Wenjing Gong, Ping Sun, Xiangshuo Kong, Miaomiao Yang, Weiwei Zhang   +7 more
doaj   +1 more source

Mitochondrial Quality Control in Age-Related Pulmonary Fibrosis. [PDF]

, 2020
Idiopathic pulmonary fibrosis (IPF) is age-related interstitial lung disease of unknown etiology. About 100,000 people in the U.S have IPF, with a 3-year median life expectancy post-diagnosis.
Cuevas-Mora, Karina, Romero, Freddy, Roque, Willy   +2 more
core   +1 more source

Depletion of mitochondria in mammalian cells through enforced mitophagy [PDF]

, 2016
Mitochondria are not only the 'powerhouse' of the cell; they are also involved in a multitude of processes that include calcium storage, the cell cycle and cell death.
Correia-Melo, Clara, Ichim, Gabriel, Passos, João F., Tait, Stephen   +3 more
core   +1 more source

Astrocytic Mitochondria Transplantation Rescues Neuron Loss and Dendritic Injuries in Acute Cerebral Ischemic Stroke Mouse Model by Flexibly Regulating Mitochondria Dynamics

Annals of Neurology, EarlyView.
Objective Cerebral ischemic stroke causes neuronal oxygen/energy deprivation, disrupting mitochondrial function including reduced membrane potential and bioenergetics, exacerbating neuronal injury. Mitochondrial defects are, therefore, a central neuropathological node and potential therapeutic target.
Ning Bian, Jianing Shen, Linwei Tian, Jinghui Li, Lu Yang, Bo Yuan, Shulin Li, Yuyu Niu, Lu Zhao, Jingkuan Wei   +9 more
wiley   +1 more source