Results 251 to 260 of about 615,187 (312)

Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy. [PDF]

JCEM Case Rep
John R, Chapla A, Chacko G, Yoganathan S, Thomas MM, Thomas N.   +5 more
europepmc   +1 more source

FGF13 Deficiency Ameliorates Paclitaxel‐Induced Neuropathic Pain by Inhibiting VASH1‐Mediated Microtubule Detyrosination to Promote Mitophagy

Advanced Science, EarlyView.
FGF13 is upregulated in DRG neurons of PIPNP model mice. DRG neuron‐specific knockout of FGF13 ameliorates PIPNP symptoms. Mechanistically, FGF13 potentiates microtubule detyrosination by promoting VASH1 binding to microtubules. FGF13 knockout suppresses VASH1‐mediated microtubule detyrosination and promotes α‐tubulin tyrosination.
Yiming Dong, Yidan Wang, Simeng Lv, Zishan Dong, Kaixi Zhi, Xiuhua Guo, Xuyan Li, Ruoxi Yu, Yiyi Zhang, Siyuan Cheng, Chuan Wang   +10 more
wiley   +1 more source

Prolonged Gastrointestinal Transit Times and Dysmotility in m.3243A>G Mitochondrial Disease. [PDF]

Neurogastroenterol Motil
Nielsen SR, Stoico MP, Liao D, Drewes AM, Pedersen IS, Frederiksen AL, Brock C.   +6 more
europepmc   +1 more source

HNRNPD Induces Radioresistance in Nasopharyngeal Carcinoma by Sequestering GRAMD4 mRNA in Stress Granules

Advanced Science, EarlyView.
HNRNPD promotes radioresistance in nasopharyngeal carcinoma by enhancing stress granule assembly and sequestering GRAMD4 mRNA. This suppresses GRAMD4 translation and inhibits mitochondrial apoptosis. Targeting the integrated stress response with ISRIB restores GRAMD4 expression and sensitizes tumors to radiotherapy, revealing a translational control ...
Yingzi Li, Tong Xiang, Yuanyuan Liu, Desheng Weng, Jingjing Zhao, Hao Chen, Yan Tang, Songzuo Xie, Hao Zhang, Jun Luo, Xinyi Yang, Qiuzhong Pan, Muping Di, Jianchuan Xia   +13 more
wiley   +1 more source

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease. [PDF]

Acta Neuropathol
Smith LA, Olkhova EA, Lax NZ, Ng YS, Taylor RW, Gorman GS, Erskine D, McFarland R.   +7 more
europepmc   +1 more source

An Activity‐Dependent NEPAS–PTX3 Axis Links Neurovascular and Myelin Deficits to Cognitive Impairment

Advanced Science, EarlyView.
An activity‐dependent pathway links prefrontal circuit hypoactivity to cognitive impairment. Reduced PVA–mPFC activity upregulates NEPAS, which suppresses PTX3 secretion, leading to impaired angiogenesis, myelin deficits, and memory decline. Rescue is achieved by NEPAS knockdown or chemogenetic circuit activation.
Boya Hu, Zifei Chen, Bingmei Sun, Jiale Gao, Jiale Xu, Xiaochun Guo, Fenfei Gao, Zhongsi Wang, Jie Wu, Xiaoyu Ji, Peipei Liu, Bing Huang   +11 more
wiley   +1 more source

Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy". [PDF]

JCEM Case Rep
John R, Chapla A, Chacko G, Yoganathan S, Thomas MM, Thomas N.   +5 more
europepmc   +1 more source

Endoplasmic Reticulum Geometry Dictates Neuronal Bursting via Calcium Store Refill Rates and Exposes Selective Neuronal Vulnerability

Advanced Science, EarlyView.
The ER's continuous tubular network is maintained by ER‐shaping proteins whose mutation or dysregulation contributes to neurodegenerative diseases. Here, we show that ER morphology sets the speed of Ca2+ store replenishment between firing events. Disrupting ER continuity slows intra‐ER Ca2+ redistribution from extracellular refill (SOCE) sites, driving
Valentina Davi, Pierre Parutto, Yuyi Zhang, Tasuku Konno, Cecile Crapart, Raquel Pereira, John P. Franklin, Mosab Ali Awadelkareem, Daniel C Maddison, Michael J. Devine, Edgar R. Gomes, Joseph Chambers, Elena Koslover, Edward Avezov   +13 more
wiley   +1 more source

Preliminary investigation on the economic cost of mitochondrial disease in Chinese children. [PDF]

Orphanet J Rare Dis
Xu C, Zhao D, Duan X, Liu Z, Li T, Zhang Y, Zhang Z, Song T, Zou Y, Jiang H, Fang F.   +10 more
europepmc   +1 more source

Cuproptosis and Mitophagy Mediated by the THUMPD1/IGF2R‐Dependent Suppression of AKT and Activation of AMPK Signaling Suppress Lung Adenocarcinoma Progression

Advanced Science, EarlyView.
THUMPD1 drives a tumor‐suppressive signaling cascade in lung adenocarcinoma by promoting IGF2R expression. IGF2R associates with PPP2R1A to suppress AKT and activate AMPK, leading to SLC31A1 upregulation and copper accumulation. Elevated copper disrupts mitochondrial metabolism and induces excessive mitophagy, thereby restraining tumor growth and ...
Kai Wu, Bo Qin, Zhuoyu Gu, Weizheng Ding, Xiaoming Chen, Kaishang Zhang, Yujin Qiao, Shuang Yuan, Song Zhao, Xiangnan Li, Peng Zhang   +10 more
wiley   +1 more source