Publications by authors named "T Wegierski"

Article Synopsis
  • Genetic variants in the TBC1D24 gene are linked to non-syndromic autosomal dominant hearing loss (ADHL), but their molecular mechanisms remain unclear.
  • Researchers used zebrafish to study TBC1D24's role in hearing and how specific harmful mutations affect its function.
  • Experiment results showed that knocking down TBC1D24 led to ear structure defects and movement issues in zebrafish embryos, with harmful mutations interfering more than normal gene expression, thus pinpointing TBC1D24's critical role in inner ear development and ciliary function.
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Calcium is involved in vision processes in the retina and implicated in various pathologies, including glaucoma. Rod cells rely on store-operated calcium entry (SOCE) to safeguard against the prolonged lowering of intracellular calcium ion concentrations. Zebrafish that lacked the endoplasmic reticulum Ca sensor Stim2 (stim2 knockout [KO]) exhibited impaired vision and lower light perception-related gene expression.

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Innate immunity is the first line of host defense against pathogens. Here, through global transcriptome and proteome analyses, we uncover that newly described cytoplasmic poly(A) polymerase TENT-5 (terminal nucleotidyltransferase 5) enhances the expression of secreted innate immunity effector proteins in . Direct RNA sequencing revealed that multiple mRNAs with signal peptide-encoding sequences have shorter poly(A) tails in -deficient worms.

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Store-operated calcium entry (SOCE) is the flow of calcium ions (Ca) into cells in response to the depletion of intracellular Ca stores that reside predominantly in the endoplasmic reticulum (ER). The role of SOCE has been relatively well understood for non-excitable cells. It is mediated mostly by the ER Ca sensor STIM1 and plasma membrane Ca channel Orai1 and serves to sustain Ca signaling and refill ER Ca stores.

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Familial Alzheimer's disease (AD) is caused by mutations in the genes that encode amyloid precursor protein (APP) and presenilins. Disturbances in calcium homeostasis have been observed in various cellular and animal models of AD and are proposed to underlie the pathogenesis of the disease. Furthermore, wildtype presenilins were shown to regulate endoplasmic reticulum (ER) calcium homeostasis, although their precise mechanism of action remains controversial.

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