Results 91 to 100 of about 3,353 (142)

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Enforced expression of Mfn2 and DRP1 relieves Vpr-induced apoptosis.

, 2013
After transient transfection of Mfn2, or DRP1 expression plasmid for 24 hours, cells were infected with Vpr-expressing lentivirus for 72 hours. A, In contrast to Lenti-Vpr negative (-) HEK293 cells (medium control and vector control), the 89 kDa cleavage
Shiow-Her Chiou (329314), Chih-Yang Huang (54970), Kuan-Chih Chow (329315), Shu-Fen Chiang (329312), Tze-Yi Lin (329313)   +4 more
core   +1 more source

Mfn2 regulates calcium homeostasis and suppresses PASMCs proliferation via interaction with IP3R3 to mitigate pulmonary arterial hypertension

Journal of Translational Medicine
Background Pulmonary arterial hypertension (PAH) is a chronic disorder characterized by the excessive proliferation of pulmonary arterial smooth muscle cells (PASMCs).
Rui Wang, Jie Wang, Jing Yu, Zhiqiang Li, Minfang Zhang, Yuhu Chen, Fen Liu, Dongmei Jiang, Jingfei Guo, Xiaomei Li, Yun Wu   +10 more
doaj   +1 more source

Energetic dysregulations in psychotic disorders: Targets for new therapeutics

The FEBS Journal, EarlyView.
The present review synthesizes literature documenting aberrant energy production and use, specifically related to mitochondrial and redox dysregulation, in psychotic disorders. Findings from different levels of investigation—genetic, cellular, and in vivo imaging—converge on aberrant energy metabolism as a hallmark of psychotic disorders.
Jacey Anderson, Kai‐Christian Sonntag, Thao Do Vy Le, Kaitlin Shannon, Chao Wang, Fei Du, Xi Chen, Donna McPhie, Dost Ongur, Bruce Cohen, Virginie‐Anne Chouinard   +10 more
wiley   +1 more source

One day of environment‐induced heat stress causes injury to the murine kidney

Experimental Physiology, EarlyView.
Abstract Environment‐induced heat stress (EIHS) results from sustained body temperature elevation owing to prolonged exposure to heat and humidity. We hypothesized that EIHS would cause kidney injury and cellular dysfunction. To test this hypothesis, female C57 mice were exposed to EIHS (n = 14; 37.6°C, 42.0% relative humidity) or thermoneutral (TN ...
Melissa Roths, Alyona Michael, Zachary J. Schlader, Joshua T. Selsby   +3 more
wiley   +1 more source

Exosomes from IH- Induced bEnd3 Cells Promote OSA Cognitive Impairment via miR-20a-5p/MFN2 Mediated Pyroptosis of HT22 Cells

Nature and Science of Sleep
Zhifeng Chen,1– 4 Yulin Shang,5 Yanru Ou,1– 4 Li Zhou,1– 4 Ting Liu,1– 4 Subo Gong,6 Xudong Xiang,7 Yating Peng,1– 4 Ruoyun Ouyang1– 4 1Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha ...
Chen Z, Shang Y, Ou Y, Zhou L, Liu T, Gong S, Xiang X, Peng Y, Ouyang R   +8 more
doaj  

Mitochondrial alterations as potential early events in neuromuscular junction remodelling with muscle disuse

Experimental Physiology, EarlyView.
Abstract Physical inactivity impairs neuromuscular health, promoting skeletal muscle atrophy, mitochondrial changes, and neuromuscular junction (NMJ) instability. However, the interplay between mitochondria and NMJ alterations in the context of muscle disuse remains underexplored.
Evgeniia Motanova, Evgenii Lysenko, Fabio Sarto, Mladen Gasparini, Boštjan Šimunic, Rado Pišot, Marco V. Narici   +6 more
wiley   +1 more source

Mitochondrial capacities and quality control following short‐ and long‐term weight restoration after simulated anorexia nervosa

Experimental Physiology, EarlyView.
Abstract Anorexia nervosa (AN) is a psychiatric disorder characterized by prolonged caloric restriction and skeletal muscle atrophy. Mitochondrial health is a key mediator of muscle function, yet the role of mitochondria during AN and following weight regain has not been investigated. The objective of this study was to evaluate mitochondrial capacities
Megan E. Rosa‐Caldwell, Toby L. Chambers, Lauren Breithaupt, Ruqaiza Muhyudin, Patience Salvalina Okoto, Sadie R. Thompson, Emily E. Rothacker, Claire Greenhill, Katie A. Wood, Kevin A. Murach, Sarah H. White‐Springer, Ursula B. Kaiser, Seward B. Rutkove   +12 more
wiley   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Mitofusin 2 Promotes Apoptosis of CD4+ T Cells by Inhibiting Autophagy in Sepsis

Mediators of Inflammation, 2017
Apoptosis of CD4+ T cells is a primary pathophysiological mechanism of immune dysfunction in the pathogenesis of sepsis. Mitofusin 2 (Mfn2), an integral mitochondrial outer membrane protein, has been confirmed to be associated with cellular metabolism ...
Lan Ying, Guang-Ju Zhao, You Wu, He-Liang Ke, Guang-Liang Hong, Hui Zhang, Ning Dong, Yao Wu, Yong-Ming Yao, Zhong-Qiu Lu   +9 more
doaj   +1 more source