Results 291 to 300 of about 2,152,541 (363)

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger   +16 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

Anti-Cryptosporidium efficacy of BKI-1708, an inhibitor of Cryptosporidium calcium-dependent protein kinase 1. [PDF]

open access: yesPLoS Negl Trop Dis
Choi R   +22 more
europepmc   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen   +18 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

open access: yesAdvanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio   +11 more
wiley   +1 more source

3D In Vitro Models of Breast Cancer: Current Challenges and Future Prospects Toward Recapitulating the Microenvironment and Mimicking Key Processes

open access: yesAdvanced Biology, EarlyView.
In vitro cancer models are advantageous for studying important processes such as tumorigenesis, cancer growth, invasion, and metastasis. The complexity and biological relevance increase depending on the model structure, organization, and composition of materials and cells.
Kyndra S. Higgins   +2 more
wiley   +1 more source

Adipose Mesenchymal Stem Cell‐Derived Exosomes in Conjunction with Roflumilast Ameliorate Chronic Kidney Disease Through the Modulation of Fibrosis and Inflammation

open access: yesAdvanced Biology, EarlyView.
The novelty of this study showed that the injection of exosomes produced from ADMSCs in combination with Roflumilast poses a more favorable therapeutic outcome for CKD induced by Adriamycin, compared to therapy with exosomes or Roflumilast alone. Roflumilast and exosomes treatment lowered the expression of the apoptotic, fibrotic, and inflammatory ...
Mohamed Ali   +5 more
wiley   +1 more source

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