Results 121 to 130 of about 12,377 (209)

Mitofusin 2 keeps the respiratory chain on Q [PDF]

Journal of Cell Biology, 2015
![Figure][1] Many mitochondria (green) show reduced membrane potential (indicated by the potentiometric reporter TMRM, red) in fibroblasts lacking MFN2. [Mourier et al.][2] reveal that the mitochondrial fusion protein Mitofusin 2 (MFN2) is required to maintain production of the ...
openaire   +1 more source

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, Volume 110, Issue 2, Page 165-171, August 2026.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A) [PDF]

, 2007
Charcot-Marie-Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2). Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes.
Eggermann, T., Eggermann, Thomas, Senderek, J., Elolff, E., Bähr, M., Neusch, C., Schneider-Gold, C.   +6 more
core   +1 more source

Mitochondrial Dynamics Participate in an Early Metabolic Adaptation of Glioblastoma Multiforme T98G Cells to Doxorubicin-Induced Chemotherapeutic Stress

Cells
Chemotherapy-induced metabolic reprogramming of glioblastoma multiforme (GBM) cells increases intracellular levels of reductive and energetic carriers, thereby fueling drug-relocation and retention systems and enhancing GBM drug-resistance.
Maciej Pudełek, Maksym Pudełek, Julia Przeniosło, Sylwia Kędracka-Krok, Zbigniew Madeja, Jarosław Czyż   +5 more
doaj   +1 more source

Raptor and Drp1 Function Synthetically to Control Hypoxic Death and the Mitochondrial Network in Caenorhabditis elegans

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
Hypoxia results in fragmented mitochondria. Whether this fragmentation promotes or prevents cell death is unresolved. Caenorhabditis elegans mutants defective in mitochondrial fission and fusion coupled with a hypoxia resistant Raptor mutant demonstrated that hypoxia‐induced mitochondrial fragmentation occurs without an intact fission machinery and ...
Julien Goldstick, Diego Compte, Chun‐Ling Sun, Alison E. Ritter, C. Michael Crowder   +4 more
wiley   +1 more source

Metabolic Dysfunction‐Associated Fatty Liver Disease: From Pathogenesis to Treatment

MedComm, Volume 7, Issue 7, July 2026.
Extracellular vesicles play a crucial role in interorgan crosstalk of adipose–liver and gut–liver axes and hold potential as therapeutic targets and drug delivery systems for metabolic dysfunction‐associated fatty liver disease (MAFLD). Abbreviations: AT: adipose tissue; EVs: extracellular vesicles; HL: healthy liver; NAFL: nonalcoholic fatty liver ...
Zhifu Cui, Xiaxia Du, Felix Kwame Amevor, Yaoyao Xia, You Yang, Lingbin Liu   +5 more
wiley   +1 more source

Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A [PDF]

, 2017
Charcot-Marie-Tooth disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene. Mitofusin 2 encodes a mitochondrial outer membrane protein that participates in mitochondrial fusion in ...
Courvoisier, Delphine S., Chrast, Roman, Cartoni, Romain, Médard, Jean-Jacques, Martinou, Jean-Claude, Arnaud, Estelle, Poirot, Olivier   +6 more
core  

Acylglycerol Kinase Inhibition Restores Mitophagy and Alleviates Alzheimer's Disease Pathology

MedComm, Volume 7, Issue 7, July 2026.
AGK (acylglycerol kinase) is abnormally upregulated in AD patients and mouse models. By stabilizing the TOM–TIM complex, this excess AGK facilitates PINK1 translocation to the IMM and prevents its OMM accumulation, leading to mitophagy impairment.
Wensheng Li, Xuan Yu, Cuiping Guo, Yuting Huang, Zhen Wei, Yi Liu, Jian‐Zhi Wang, Rong Liu, Weike Ji, Qiuhong Duan, Jing Wang, Guihua Wang, Xiaochuan Wang   +12 more
wiley   +1 more source

Mitofusin 2 (MFN2) mutations cause mitochondrial DNA instability in Charcot-Marie-Tooth disease [PDF]

, 2012
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies and it affects at least 1 in 2,500 individuals. A specific autosomal-dominant axonal CMT subtype, hereditary motor and sensory neuropathy type VI (HMSN-VI ...
Patrick Yu-Wai-Man; Kamil Sitarz; Joanna Stewart; Angela Pyle; Mary Reilly; Rita Horvath; Patrick Chinnery
core  

Endoplasmic reticulum stress and the unfolded protein response in lung diseases: molecular pathways and therapeutic interventions

The Journal of Pathology, Volume 269, Issue 3, Page 268-283, July 2026.
Abstract Endoplasmic reticulum stress (ERS) occurs when the protein‐folding capacity of the endoplasmic reticulum (ER) is overwhelmed, triggering the unfolded protein response (UPR) to restore homeostasis. However, severe or persistent ERS can shift the UPR toward pro‐inflammatory, apoptotic, and fibrotic signaling, thereby exacerbating tissue injury ...
Lanlan Song, Yichen Liu, Chen Xu, Yaochen Zhang, Kaiming Xu, Dan Yao, Xiaoying Huang   +6 more
wiley   +1 more source