Results 261 to 270 of about 65,519 (325)

When <i>pull</i>ulanase needs a little push: MyoAAV capsids enhance gene therapy for GSD IIIa. [PDF]

Mol Ther Methods Clin Dev
Venigalla S, Pacak CA.
europepmc   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Vootukuri R, Gurung S, Ghosh R, Mills P, Baruteau J, Zhou H.   +5 more
europepmc   +2 more sources

Enzyme response to thyrotoxicosis and hypothyroidism in human liver and muscle [PDF]

, 1972
Bachmaier, B., Kiefhaber, P., Nolte, J., Pette, D., Schneider, H., Scriba, Peter Christian   +5 more
core  

Mild Short‐Term Caloric Restriction Induces Coordinated Changes That Promote Lipid Deposition While Maintaining Thermogenesis Capacity in Interscapular Brown Adipose Tissue of Male Rats

The FASEB Journal, Volume 40, Issue 3, 15 February 2026.
Rats under mild caloric restriction (85% vs. ad libitum) for 2 weeks show metabolic and structural adaptations in iBAT. Caloric restriction increases glycolysis and triglyceride deposition in the tissue, leading to larger lipid droplets. It also reduces mitochondrial iBAT content, while maintaining iBAT thermogenic potential thanks to an increased ...
Giuliana Panico, Vincenzo Migliaccio, Gabriella Pinto, Anna Iliano, Gianluca Fasciolo, Martina Coletta, Paola Venditti, Maria Moreno, Angela Amoresano, Pieter de Lange, Lillà Lionetti, Assunta Lombardi   +11 more
wiley   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

FEBS Open Bio, Volume 16, Issue 2, Page 252-267, February 2026.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

The chronic kidney disease of the glycogen storage disease type I, molecular mecanisms and new therapeutic strategies

, 2019
Laure Monteillet
openalex   +1 more source