Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Molecular characterization of an anion pump. The ArsB protein is the membrane anchor for the ArsA protein [PDF]
R-factor mediated bacterial resistance to arsenical salts occurs by active extrusion of the toxic oxyanions from cells of gram negative bacteria. The ars operon of the conjugative plasmid R773 encodes an anion pump.
Rosen, Barry P., Tisa, Louis S.
core +1 more source
Effects of Altering Freshwater Chemistry on Physiological Responses of Rainbow Trout to Silver Exposure [PDF]
The influence of different water Cl- (50–600 μM), Ca2+ (50–1,500 μM), Na+ (50–1,500 μM), or dissolved organic carbon (DOC, 0.31–5 mg/L) levels on silver-induced physiological and biochemical perturbations of rainbow trout were investigated.
Bergman +33 more
core +3 more sources
SPG4 and Dementia: Expanding the Clinical Spectrum
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 +19 more
wiley +1 more source
FoF1-ATP synthase catalyzes the synthesis of adenosine triphosphate (ATP). The F1 portion can be stripped from the membrane-embedded Fo portion of the enzyme.
Boersch, Michael +4 more
core +1 more source
Regulation of vacuolar H+-ATPase activity by the Cdc42 effector Ste20 in Saccharomyces cerevisiae [PDF]
In the budding yeast Saccharomyces cerevisiae, the Cdc42 effector Ste20 plays a crucial role in the regulation of filamentous growth, a response to nutrient limitation.
Höfken, T, Kane, PM, Li, SC, Lin, M
core +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
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
Cell-specific α and β subunit expression patterns of Na+/K+-ATPases in the common marmoset cochlea
High potassium concentration in the cochlear endolymph electrically drives hair cell activity. Sodium potassium ATPase (Na+/K+-ATPase) is an essential pump for ion homeostasis in the cochlea.
Makoto Hosoya +5 more
doaj +1 more source
Transcriptional regulators of Na, K-ATPase subunits
The Na,K-ATPase classically serves as an ion pump creating an electrochemical gradient across the plasma membrane that is essential for transepithelial transport, nutrient uptake and membrane potential.
Zhiqin eLi, Sigrid A Langhans
doaj +1 more source
Effect of plant-based feed ingredients on osmoregulation in the Atlantic salmon lens [PDF]
Lenses of adult Atlantic salmon fed with a plant oil and plant protein-based diet (plant diet) were compared to lenses of fish fed a diet based on traditional marine ingredients (marine diet) with respect to biochemical composition and functionality ex ...
Baslow +52 more
core +1 more source

