Results 171 to 180 of about 12,864,594 (255)

Nuclear Translocation of PFKFB3 Promotes Disuse-Induced Muscle Atrophy via Scaffolding Nedd4-Mediated JunB Ubiquitination. [PDF]

Adv Sci (Weinh)
Ma M, Liu Y, Wu W, Yang B, Zhuang J, Yu H, Mi R, Lu Y, Yang W, Yi H, Yuan C, Gu Y, Li H.   +12 more
europepmc   +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

Spaceflight-guided pharmacogenomics: a foundational analysis of pharmaceuticals and their responsive gene targets in the space environment. [PDF]

Front Physiol
Nelson TM, Sakharkar A, Rose JK, Walter CE, Cervantes-Navarro GL, Schmidt CM, Lin R, Alexander E, Zheng JT, Glicksberg BS, Schmidt JC, Etlin SM, Overbey E, Toh LS, Rana BK, Patel HH, Schmidt MA, Mason CE.   +17 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

MAD2L1 overexpression promotes breast cancer progression and confers resistance to paclitaxel via proteasomal stabilization. [PDF]

Oncol Lett
Wang SH, Yeh CH, Wu CW, Hsu CY, Tsai EM, Hung CM, Lin MW, Hsieh TH.   +7 more
europepmc   +1 more source

Natural Frequencies of Levodopa‐Induced Dyskinesia in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Abnormal involuntary movements, known as dyskinesias, are common complications of levodopa treatment in patients with Parkinson's disease and can significantly impair quality of life. The underlying pathophysiology remains unclear, and current therapeutic options are limited.
Ioannis U. Isaias, Federica Avantaggiato, Gianni Pezzoli, Andrea Canessa   +3 more
wiley   +1 more source

Hydrogel-Based Depot Systems in Psychiatric Pharmacotherapy: A Narrative Review Rethinking Long-Acting Drug Delivery. [PDF]

Gels
Predoi ED, Târtea A, Taisescu O, Rotaru-Zăvăleanu AD, Ifrim-Predoi AM, Vlad RC, Cătălin B, Mușat MI, Amzoiu MO, Greșiță A.   +9 more
europepmc   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Sunlight-Induced Lipid Oxidation and Degradation of Edible Oil Mediated by Hemoglobin: Implications for Food System Sustainability. [PDF]

Food Sci Nutr
Hajimohammadi M, Faraj FH, Boghdachi M, Alwasiti AA, Shnain ZY.   +4 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source