Results 81 to 90 of about 21,491 (246)
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue
Journal of Clinical Lipidology, 2018 Multiple symmetric lipomatosis (MSL) is characterized by upper-body lipomatous masses frequently associated with metabolic and neurological signs. MFN2 pathogenic variants were recently implicated in a very rare autosomal recessive form of MSL.
Capel, Emilie +23 more
openaire +3 more sources
Annals of Neurology, EarlyView.Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach +14 more
wiley +1 more source
Mitofusin-2 Down-Regulation Predicts Progression of Non-Muscle Invasive Bladder Cancer
Diagnostics, 2021 Identification of markers predicting disease outcome is a major clinical issue for non-muscle invasive bladder cancer (NMIBC). The present study aimed to determine the role of the mitochondrial proteins Mitofusin-2 (Mfn2) and caseinolytic protease P ...
Antonella Cormio +9 more
doaj +1 more source
MFN2 suppresses cancer progression through inhibition of mTORC2/Akt signaling [PDF]
Scientific Reports, 2017 AbstractThe mitochondrial GTPase mitofusin-2 (MFN2) has previously been reported to play a role in regulating cell proliferation, apoptosis and differentiation in a number of cell types. Here, we report that breast cancer patients with low MFN2 expression are associated with poor prognosis as compared to patients with high MFN2 expression. We find that
Ke Xu +9 more
openaire +2 more sources
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 +9 more
wiley +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 +2 more
core +1 more source
Domain interactions within Fzo1 oligomers are essential for mitochondrial fusion [PDF]
, 2006 Mitofusins are conserved GTPases essential for the fusion of mitochondria. These mitochondrial outer membrane proteins contain a GTPase domain and two or three regions with hydrophobic heptad repeats, but little is known about how these domains interact ...
Chan, David C., Griffin, Erik E.
core +3 more sources
Animal Research and One Health, EarlyView.Myo‐inositol alleviates oxidative stress in dairy cow mammary epithelial cells via the Sirt5/Nrf2 pathway to promote mitochondrial fusion. This graphical abstract was created with BioRender.com. ABSTRACT High‐yielding dairy cows are susceptible to mammary gland oxidative stress due to prolonged intensive lactation, leading to redox imbalance.
Yufei Zhang +8 more
wiley +1 more source
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model [PDF]
, 2019 Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system.
A.K.M.G. Muhammad +23 more
core +2 more sources
Animal Research and One Health, EarlyView.Unregulated inflammation increases non‐esterified fatty acids (NEFAs), and triggers multi‐pathway hepatocyte damage including oxidative stress, mitochondrial dysfunction, and metabolic disorders in dairy cows. ABSTRACT Circulating concentrations of nonesterified fatty acids (NEFAs) are elevated due to lipid mobilization from adipose tissue in ...
Siqing Mao +12 more
wiley +1 more source