Results 101 to 110 of about 388,773 (307)

Mitochondrial DNA mitochondrial dysfunction and cardiac manifestations

Frontiers in Bioscience, 2016
Mitochondria, the powerhouses of cells, have their own DNA (mtDNA). They regulate the transport of metabolites and ions, which determine cell physiology, survival, and death. Mitochondrial dysfunction, including impaired oxidative phosphorylation, preferentially affects heart function via imbalance of energy supply and demand.
Sung Ryul, Lee, Nari, Kim, Yeun Hee, Noh, Zhelong, Xu, Kyung Soo, Ko, Byoung Doo, Rhee, Jin, Han   +6 more
openaire   +3 more sources

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

A direct interaction between mitochondrial proteins and amyloid-β peptide and its significance for the development and treatment of Alzheimer’s disease

, 2015
This work was supported by the Ministry of Education, Youth and Sports CZ (no. LD14009, no. SV/FVZ201201, no. SVV260062), COST CM1103, MH CZ - DRO (UHHK, 00179906), The Alzheimer’s Society, The Barcopel Foundation and the MSD Scottish Life Sciences fund ...
Gunn-Moore, Frank J, Musilek, Kamil, Benek, Ondrej, Kuca, Kamil, Aitken, Laura, Hroch, Lukas   +5 more
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway

Frontiers in Psychiatry, 2019
We previously developed a lymphoblastoid cell line (LCL) model of mitochondrial dysfunction in autism spectrum disorder (ASD); some individuals with ASD showed mitochondrial dysfunction (AD-A) while other individuals (AD-N) demonstrated mitochondrial ...
Sirish C. Bennuri, Shannon Rose, Richard E. Frye, Richard E. Frye   +3 more
doaj   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Gene set of nuclear-encoded mitochondrial regulators is enriched for common inherited variation in obesity [PDF]

, 2013
There are hints of an altered mitochondrial function in obesity. Nuclear-encoded genes are relevant for mitochondrial function (3 gene sets of known relevant pathways: (1) 16 nuclear regulators of mitochondrial genes, (2) 91 genes for oxidative ...
Wichmann, Heinz-Erich, Martin Klingenspor, Knoll, Nadja, André Scherag, Jarick Ivonne, Hebebrand, J., Anna-Lena Volckmar, Gieger, C., Christian Gieger, Anna-Lena Volckmar (280948), Nadja Knoll (280947), Knoll, N., Christian Gieger (87555), Ivonne Jarick, Hebebrand, Johannes, Klingenspor Martin, Gieger Christian, Grallert, Harald, Wichmann, H.-E., Illig, T., Jarick, Ivonne, Volckmar, Anna-Lena, Wichmann Heinz-Erich, Peters, Annette, Illig Thomas, Ivonne Jarick (250179), Anke Hinney (87545), Johannes Hebebrand, Volckmar Anna-Lena, Peters Annette, Nadja Knoll, Annette Peters (62601), Heinz-Erich Wichmann, Scherag André, Annette Peters, Harald Grallert (72666), Thomas Illig (44906), Klingenspor, Martin, Peters, A., Illig, Thomas, Grallert Harald, Thomas Illig, Harald Grallert, Hebebrand Johannes, Johannes Hebebrand (170268), Gieger, Christian, Anke Hinney, Hinney Anke, Martin Klingenspor (68144), Scherag, André, Klingenspor, M., Grallert, H., Hinney, A., Hinney, Anke, Jarick, I., Volckmar, A.-L., André Scherag (170155), Heinz-Erich Wichmann (280949), Scherag, A., Knoll Nadja   +59 more
core   +1 more source

Hyperoxia activates ATM independent from mitochondrial ROS and dysfunction

Redox Biology, 2015
High levels of oxygen (hyperoxia) are often used to treat individuals with respiratory distress, yet prolonged hyperoxia causes mitochondrial dysfunction and excessive reactive oxygen species (ROS) that can damage molecules such as DNA.
Emily A. Resseguie, Rhonda J. Staversky, Paul S. Brookes, Michael A. O’Reilly   +3 more
doaj   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source