Results 51 to 60 of about 12,239 (244)

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

Genome-Wide Divergence in the West-African Malaria Vector Anopheles melas

G3: Genes, Genomes, Genetics, 2016
Anopheles melas is a member of the recently diverged An. gambiae species complex, a model for speciation studies, and is a locally important malaria vector along the West-African coast where it breeds in brackish water.
Kevin C. Deitz, Giridhar A. Athrey, Musa Jawara, Hans J. Overgaard, Abrahan Matias, Michel A. Slotman   +5 more
doaj   +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

Neovascular Glaucoma in MELAS syndrome

American Journal of Ophthalmology Case Reports
Purpose: To describe examination and findings in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with particular focus on the ocular sequelae from diabetes.
Saira Khanna, Bradley T. Smith
doaj   +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

Epilepsy Associated With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Frontiers in Neurology, 2021
Objectives: The present study explored the clinical characteristics and prognostic factors of epilepsy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods: Thirty-four MELAS patients were included ...
Jiaai Li, Wuqiong Zhang, Zhitao Cui, Zhaoran Li, Ting Jiang, Hongmei Meng   +5 more
doaj   +1 more source

Impaired Hearing in MELAS

The Journal of International Advanced Otology, 2022
Cite this article as: Finsterer J. Impaired hearing in MELAS. J Int Adv Otol. 2022;18(3):276-277.
openaire   +3 more sources

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Correlazioni quantistiche e realismo causale [PDF]

, 2010
This Ph.D. thesis is about causality in Quantum Mechanics, namely about the possibility to provide a causal explanation for quantum Einstein – Podolsky – Rosen (EPR) correlations.The well-known interpretation of the Bell’s Theorem by Bastian Van Fraassen,
MELAS, Alessandra
core  

Visual memory failure presages conversion to MELAS phenotype

Annals of Clinical and Translational Neurology, 2022
Objective To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N‐Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes ...
Emily B. Leaffer, Darryl C. De Vivo, Kristin Engelstad, Robert H. Fryer, Yian Gu, Dikoma C. Shungu, Michio Hirano, Salvatore DiMauro, Veronica J. Hinton   +8 more
doaj   +1 more source