Results 221 to 230 of about 236,762 (343)

RETREG1/FAM134B-mediated micro-ER-phagy in the retrovirus-SERINC5 arms race. [PDF]

Autophagy Rep
Camilleri JM, Ahmad I, Zhang J, Li S, Zheng YH.   +4 more
europepmc   +1 more source

The Race to Salvage Glucocerebrosidase: Understanding Small‐Molecule Therapies for GBA1‐Associated Parkinsonism

Movement Disorders, EarlyView.
Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson, Tiffany C. Chen, Logan M. Glasstetter, Yu Chen, Juan J. Marugan, Ellen Sidransky   +5 more
wiley   +1 more source

Intracellular Calcium Dysregulation: The Hidden Culprit in the Diabetes-Gout Nexus. [PDF]

Biomedicines
Shi H, Shan Y, Qian K, Zhao R, Li H.
europepmc   +1 more source

VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients

Movement Disorders, EarlyView.
Abstract Background Membrane contact sites are crucial for the exchange of ions or lipids and thus are critical for the function and maintenance of organelles. VPS13A is a membrane‐residing, bridge‐like protein connecting two membranes to enable bulk lipid transfer. Loss‐of‐function mutations in the VPS13A gene cause VPS13A disease.
Dajana Grossmann, Adrian Spranger, Emily Fischer, Johanna W. Schubarth, Jenny Leopold, Hannes Glaß, Sebastian Klicker, My Uyen Dang Thi, Anna Elisabeth Bartalis, Andreas Hermann, Kevin Peikert   +10 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Autophagy-dependent modulation of ER calcium release drives KCNMA1/BKCa signaling and seizure susceptibility. [PDF]

Autophagy
Kochlamazashvili G, Kuijpers M.
europepmc   +1 more source

Migrasomes, Matrix‐Bound Nanovesicles, and More: Messengers in the Matrix

PROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) and particles (EPs) are diverse micro‐ and nanoparticles that circulate in bodily fluids and can attach to, or be deposited onto, the extracellular matrix (ECM) and other surfaces. To date, the nomenclature and classification of matrix‐bound or matrix‐associated EVs and EPs (MEVPs) have been unclear, largely due to
Anna V. Kolesov, Natalie Reitz, Marley Dewey, Colin L. Hisey   +3 more
wiley   +1 more source

A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction. [PDF]

Int J Mol Sci
Lugli E, Gaiaschi L, Bottone MG, De Luca F.   +3 more
europepmc   +1 more source

Harnessing Natural Compounds in Psoriasis: Targeting Cellular Pathways for Effective Therapy

Phytotherapy Research, EarlyView.
Natural compounds act on key cellular pathways in psoriasis by suppressing keratinocyte hyperproliferation, modulating Th17/IL‐17‐mediated immune responses, and reducing oxidative stress. These multi‐target effects highlight their potential as safer adjunctive therapies alongside conventional treatments.
Hye Jin Lee, Yu Jin So, Il‐Joo Jo, Ji Yong Jang, Tae Han Yook, Jun Ho Lee, Sung Wook Kim, Kangwook Lee, Soo Jung Park, Gabsik Yang   +9 more
wiley   +1 more source

Correction to: Repurposing Levothyroxine for managing metabolic dysfunction-associated steatotic liver disease. [PDF]

Endocrine
Duntas LH, Polyzos SA, Gottwald-Hostalek U, Urgatz B, Yen PM.   +4 more
europepmc   +1 more source