PubMed Latest
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
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PubMed RSS feed: Latest results from PubMed
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Flexible Tactile Sensors with Self-Assembled Cilia Based on Magnetoelectric Composites
18 January 2025Traditional tactile sensors are single-function, and it is difficult to meet the needs of applications in complex environments. This paper describes the development and applications of flexible tactile sensors with cilia based on magnetoelectric composites made of neodymium iron boron (NdFeB) microparticles with a silver (Ag) nanoshell in polydimethylsiloxane (PDMS). These sensors adopt the inherent magnetism of NdFeB microparticles and the excellent conductivity of the Ag coating. Self-assembly...
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Magnetic Resonance-Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse
18 January 2025CONCLUSIONS: MRgFUS Vim-thalamotomy is effective in treating tremor in TdPD. Relapse is associated with younger age and smaller lesion volume, but larger lesions make AEs more likely to persist. We suggest that a lesion volume between 145 and 220 mm³ on T1-weighted MRI may be the therapeutic window that ensures tremor control without long-lasting AEs. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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NME7 maintains primary cilium assembly, ciliary microtubule stability, and Hedgehog signaling
17 January 2025NME7 (nucleoside diphosphate kinase 7), a lesser studied member of the non-metastatic expressed (NME) family, has been reported as a potential subunit of the γ-tubulin ring complex (γTuRC). However, its role in the cilium assembly and function remains unclear. Our research demonstrated that NME7 is located at the centrosome, including at the spindle poles during metaphase and at the basal bodies during cilium assembly. Notably, a small fraction of NME7 localizes within the cilium. Detailed...
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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
17 January 2025Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy. These variants partly affected KICS2 stability,...
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease
17 January 2025Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. Autosomal recessive PKD (ARPKD) is a rare form of PKD, caused by mutations in PKHD1, and clinically more severe than the more common autosomal dominant PKD (ADPKD). Prior studies have implicated Hedgehog (Hh) signaling in ADPKD, with increased levels of Hh components in experimental ADPKD and reduced cystogenesis following pharmacological Hh inhibition. In contrast, the role of the Hh pathway...