Results 121 to 130 of about 507,433 (303)

MST1 promotes microglial pyroptosis and neuroinflammation in alzheimer’s disease by regulating the novel DPP8/NLRP1/Caspase-1/GSDMD-N axis

Journal of Neuroinflammation
Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by β-amyloid (Aβ) induced disruption of brain homeostasis, leading to neuronal damage and cognitive impairment.
Dongqing Cui, Shuangwu Liu, Yanxia Liu, Shuqi Luo, Yurui Sheng, Shuaiyong Zhang, Pengfei Lin   +6 more
doaj   +1 more source

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity [PDF]

, 2009
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors ...
Achilli Alessandro, GHELLI, ANNA MARIA, Mattioli Stefano, Pala M., Barbieri, Anna, Vidoni S., Torroni Antonio, Carelli Valerio, Anna Barbieri, Vidoni, Sara, Valerio Carelli, Carelli, Valerio, Ghelli, Anna, Mattioli, Stefano, Torroni, Antonio, Iommarini, Luisa, Zanna, Claudia, Pala, Maria, Vidoni Sara, Stefano Mattioli, Antonio Torroni, Achilli A., ZANNA C, Porcelli Anna Maria, Zanna Claudia, Pala Maria, MATTIOLI S, Luisa Iommarini, GHELLI A, Achilli, Alessandro, IOMMARINI L, Rugolo, Michela, Torroni A., Porcelli, Anna Maria, CARELLI V., Ghelli Anna, Rugolo Michela, BARBIERI A, RUGOLO M, PORCELLI AM, Anna Ghelli, Barbieri Anna, Sara Vidoni, Maria Pala, Alessandro Achilli, Anna Maria Porcelli, Michela Rugolo, Claudia Zanna, Iommarini Luisa, VIDONI S   +49 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient miceResearch in context

EBioMedicine, 2019
Background: Thymidine kinase 2 (TK2) catalyses the phosphorylation of deoxythymidine (dThd) and deoxycytidine (dCtd) within mitochondria. TK2 deficiency leads to mtDNA depletion or accumulation of multiple deletions.
Cora Blázquez-Bermejo, David Molina-Granada, Ferran Vila-Julià, Daniel Jiménez-Heis, Xiaoshan Zhou, Javier Torres-Torronteras, Anna Karlsson, Ramon Martí, Yolanda Cámara   +8 more
doaj   +1 more source

Mitochondrial DNA and disease

Annals of Medicine, 2005
The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence
Salvatore, Dimauro, Guido, Davidzon
openaire   +2 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

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

EMBO Molecular Medicine, 2016
The field of mitochondrial medicine is rapidly transitioning from preclinical observation to clinical application. Translation of promising data obtained in mouse models is not always straight‐forward, however.
Robert DS Pitceathly, Carlo Viscomi
doaj   +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

[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