An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3.

C21ORF2 and NEK1 have been identified as amyotrophic lateral sclerosis (ALS)-associated genes. Both genes are also mutated in certain ciliopathies, suggesting that they might contribute to the same signaling pathways. Here we show that FBXO3, the substrate receptor of an SCF ubiquitin ligase complex, binds and ubiquitylates C21ORF2, thereby targeting it for proteasomal degradation. C21ORF2 stabilizes the kinase NEK1, with the result that loss of FBXO3 stabilizes not only C21ORF2 but also NEK1. Conversely, NEK1-mediated phosphorylation stabilizes C21ORF2 by attenuating its interaction with FBXO3. We found that the ALS-associated V58L mutant of C21ORF2 is more susceptible to phosphorylation by NEK1, with the result that it is not ubiquitylated by FBXO3 and therefore accumulates together with NEK1. Expression of C21ORF2(V58L) in motor neurons induced from mouse embryonic stem cells impaired neurite outgrowth. We suggest that inhibition of NEK1 activity is a potential therapeutic approach to ALS associated with C21ORF2 mutation.

T-cell/histiocyte-rich large B-cell lymphoma of the thyroid.

T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL) is a rare subtype of diffuse large B-cell lymphoma, and has been reported to mainly affect lymph nodes with advanced Ann Arbor stage. We present a 69-year-old woman with a past history of chronic thyroiditis, who had suffered from rapidly-growing thyroid tumor. No other lymph nodes swelling or extranodal lesions were detected. She promptly underwent surgery with resection of the thyroid tumor, and the diagnosis of THRLBCL was established pathologically. She was successfully treated by standard rituximab-containing chemotherapy. To our knowledge, this is the first case report of THRLBCL exclusively arising in the thyroid.

Synthesis and properties of stable 2-metallanaphthalenes of heavier group 14 elements.

The first stable neutral stannaaromatic compound, 2-stannanaphthalene , was synthesized by taking advantage of an extremely bulky and efficient steric protection group, 2,4,6-tris[bis(trimethylsilyl)methyl]phenyl (Tbt). The molecular structure and aromaticity of were discussed on the basis of X-ray crystallographic analysis, NMR, UV-vis, and Raman spectroscopy, cyclic voltammetry, and theoretical calculations. 2-Germanaphthalene , which has a framework similar to that of , was synthesized for comparison, and systematic elucidation was made for the properties of 2-metallanaphthalene systems containing a heavier group 14 element (Si, Ge, or Sn).

Nonscanning measurements for determining in-plane mode shapes in piezoelectric devices with polished surfaces.

A nonmechanical scanning method has been developed for the visualization of the in-plane mode shapes of piezoelectric devices with polished surfaces. By taking into account the reflection versus laser-wavelength characteristics of the material of the electrodes, the in-plane motion can be measured even if the surface of the measurement plane is polished like a mirror. This method is based on laser speckle interference and two-dimensional correlation filtering that effectively enhance the mode-shape visualization for bulk and surface acoustic wave devices. Although this method cannot directly measure absolute displacement, the simple measurement system and high speed measurement more than offset this disadvantage. The experimental results for fundamental thickness-shear and nearby inharmonic modes in a bimesa-shaped rectangular AT-cut quartz resonator have been presented. The results of the experiments and the analyses obtained by the three-dimensional finite element analyses correlate well and show the advantages and validity of the proposed technique.

Radiation protection system for interventional procedures of the upper extremity: evaluation in a phantom model.

PURPOSE: To design a radiation protection system for interventional procedures of the upper extremity and to evaluate the effectiveness of the system. MATERIALS AND METHODS: The radiation protection system consisted of an image intensifier (I-I) hood and x-ray tube cover. The I-I hood encircled the I-I to protect against scattered radiation from the patient's upper extremity and the table. The I-I hood consisted of four components: a device for attaching the hoods, two acrylate hoods with an 0.50-mm Pb equivalent, and a lead curtain hood with a 0.35-mm Pb equivalent. The x-ray tube cover was constructed of lead curtain to protect against backscattering radiation from the catheter table. An extremity phantom was used to measure the scattered radiation around the angiographic apparatus. The scattering dose rates were measured with an ionization dosimeter with and without a radiation protection system. The heights of the measuring points from the floor were 50 cm (operator's lower limbs), 100 cm (operator's abdomen), and 150 cm (operator's head/neck). RESULTS: The dose rates were reduced most with the combination of the I-I hood and the x-ray tube cover. The x-ray tube cover was effective in reducing scattering when it was set close to the table and the phantom. The maximum percentage decreases in dose rates by the radiation protection system were 99% at 50 cm, 73% at 100 cm, and 100% at 150 cm. Therefore, at 50 cm and 150 cm, the high-dose-rate area around the angiographic apparatus was reduced almost completely by the radiation protection system. CONCLUSION: The radiation protection system for interventional procedures of the upper extremity was effective in reducing scattered radiation around the angiographic apparatus.