Results 41 to 50 of about 14,094 (239)

mt tRFs, New Players in MELAS Disease

Frontiers in Physiology, 2022
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is an OXPHOS disease mostly caused by the m.3243A>G mutation in the mitochondrial tRNALeu(UUR) gene. Recently, we have shown that the mutation significantly changes the
Salvador Meseguer, Mari-Paz Rubio
doaj   +1 more source

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

Fraudatrix melas

, 2020
<i>Fraudatrix melas</i> (Eggers) <p> <i>Xyleborus melas</i> Eggers, 1927: 93.</p> <p> <i>Coptoborus melas</i> (Eggers): Wood & Bright 1992: 663.</p> <p> <i>Fraudatrix melas&
Johnson, Andrew J., Schmaedick, Mark A., Smith, Sarah M., Rabaglia, Robert J., Beaver, Roger A.   +4 more
core   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

On the nature of coincidental events [PDF]

, 2022
It is a common opinion that chance events cannot be understood in causal terms. Conversely, according to a causal view of chance, intersections between independent causal chains originate accidental events, called “coincidences.” The present paper takes ...
Salis, Pietro, Pietro Salis, Alessandra Melas, Melas, Alessandra   +3 more
core   +1 more source

Neurofilament light is a novel biomarker for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

Scientific Reports, 2021
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a complicated maternally inherited disorder lacking of sensitive and specific biomarkers.
Yong-Sheng Zheng, Chong Sun, Rong Wang, Ne Chen, Su-Shan Luo, Jian-Ying Xi, Jia-Hong Lu, Chong-Bo Zhao, Yu-Xin Li, Lei Zhou, Jie Lin   +10 more
doaj   +1 more source

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report

Radiology Case Reports, 2022
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with the features of herpes simplex encephalitis (HSE), which is rare and has been described in only a few case reports.
Wen-Gao Zeng, MD, Wan-Min Liao, PhD, Jue Hu, PhD, Su-Fen Chen, MD, Zhen Wang, PhD   +4 more
doaj   +1 more source

Psilocybin as a Transdiagnostic Treatment for Eating Disorders and Comorbid Psychopathology: Implications for Clinical Nosology and Research Directions

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Eating disorders (EDs) are characterized by high rates of psychiatric comorbidity and suboptimal treatment outcomes. There remain critical gaps in research, including the exploration of effective transdiagnostic interventions. This forum article examines the potential of psilocybin treatment (PT) as a transdiagnostic intervention for
Elena Koning, Jérémie Richard, Aaron Keshen   +2 more
wiley   +1 more source

Dynamic reconfiguration and transition of whole-brain networks in patients with MELAS revealed by a hidden Markov model

Frontiers in Neurology
ObjectivesMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare maternally inherited disease. The neuropathologic mechanisms and neural network alterations underlying stroke-like episodes (SLEs), a recurrent ...
Qingyun Yu, Qingyun Yu, Rong Wang, Chong Sun, Bin Hu, Xueling Liu, Liqin Yang, Jie Lin, Daoying Geng, Daoying Geng, Daoying Geng, Yuxin Li   +11 more
doaj   +1 more source

Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis [PDF]

International Journal of Ophthalmology
The phenotypes of the adenine-to-guanine transition at position 3243 of mitochondrial DNA (m.3243A>G) are highly variable, with different symptoms observed in different patients.
Xiao-Hong Liu, Xi Shen, Yi-Sheng Zhong
doaj   +1 more source