Results 171 to 180 of about 1,155,163 (294)

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

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

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

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

COVID‐19 Vaccination Is Not Associated With the Development of Idiopathic Inflammatory Myositis in US Veterans

Arthritis Care &Research, EarlyView.
Objective Several case reports have proposed a potential association between COVID‐19 vaccination and the subsequent development of idiopathic inflammatory myositis (IIM). This study examined prior COVID‐19 vaccination in US veterans who developed new‐onset IIM compared to those without new‐onset IIM.
Caleb Hernández, Naomi Schlesinger, Jorge Rojas, Jessica A. Walsh, Tawnie J. Braaten, Gary A. Kunkel, Makoto Jones, Brian C Sauer, Julio Facelli, Grant W. Cannon, Dorota Lebiedz‐Odrobina   +10 more
wiley   +1 more source

Prevalence of Systemic Lupus Erythematosus in Australia, 2010–2022: A Population‐Based Study Using Linked National Administrative Health Data

Arthritis Care &Research, EarlyView.
Objective Systemic lupus erythematosus (SLE) is a heterogenous inflammatory condition with widely varying global prevalence estimates. The frequency of SLE in the general population of Australia has been reported to be notably lower than contemporary estimates in countries such as the United States or United Kingdom, at 19 to 39 per 100,000 as opposed ...
Lucinda Roper, Rachel Black, Joanna Tieu, Winnie Chen, Matthew Parker, Catherine Hill, Natasha Nassar, Mandana Nikpour   +7 more
wiley   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Selective and Precise Editing of Digital Polymers Through Parallel or Series Toehold‐Mediated Strand Displacement

Advanced Functional Materials, EarlyView.
A sequence‐encoded supramolecular construct containing two accessible toeholds is developed herein for enabling multiple editing operations. By introducing specific input strands, it is possible to selectively erase or rewrite digital content through parallel or series toehold‐mediated strand displacement (PTMSD or STMSD).
Jakub Ossowski, Cyril Antheaume, Jean‐François Lutz, Maria Nerantzaki   +3 more
wiley   +1 more source

LL‐37 Driven Phase Transition and Stacking in Oligolamellar Gram‐Negative Bacterial Membrane Models

Advanced Functional Materials, EarlyView.
This work establishes oligolamellar bacterial membrane models to investigate how LL‐37 disrupts the complex dual‐bilayer architecture of Gram‐negative bacteria. Combining SAXS, cryo‐TEM, electrophoretic mobility measurements, and coarse‐grained simulations, it reveals cardiolipin‐driven phase transitions leading to bicelle‐like structures and membrane ...
Bettina Tran, Diane C.A. Lima, Linda Sandblad, Madeleine Ramstedt, Thereza A. Soares, Stefan Salentinig   +5 more
wiley   +1 more source

Structure Formation in Butterfly Scales: Interplay of Genetic Control, Mechanical Instabilities, and Dynamic Material Properties

Advanced Functional Materials, EarlyView.
Butterfly wing scales are intricate cuticular functional nanosctructures. This perspective suggests that spatially varying material properties, cytoskeletal constraints, and growth‐driven mechanical instabilities shape the resulting nanoscale architectures created from single cells.
Anupama Prakash, Victoria Lloyd, Yi Yang, Anna‐Lee Jessop, Anthony McDougal, Primož Pirih, Guillaume Duclos, Andrew Parnell, Mathias Kolle, Nicola J. Nadeau, Bodo D. Wilts   +10 more
wiley   +1 more source