Hao Hu

Collapsin response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the CRMP1 gene in three unrelated individuals with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. Based on in silico analysis these variants are predicted to affect the CRMP1 structure. We further analyzed the effect of the variants on the protein structure/levels and cellular processes. We showed that the human CRMP1 variants impact the oligomerization of CRMP1 proteins. Moreover, overexpression of the CRMP1 variants affect neurite outgrowth of murine cortical neurons. While altered CRMP1 levels have been reported in psychiatric diseases, genetic variants in CRMP1 gene have never been linked to human disease. We report for the first-time variants in the CRMP1 gene and emphasize its key role in brain development and function by linking directly to a human neurodevelopmental disease.

Collapsing response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the CRMP1 gene in three unrelated individuals with muscular hypotonia, intellectual disability and/or autism spectrum disorder. Based on in silico analysis these variants are predicted to affect the CRMP1 structure. We further analyzed the effect of the variants on the protein structure/levels and cellular processes. We showed that the human CRMP1 variants are dominant-negative and impact the oligomerization of CRMP1 proteins. Moreover, overexpression of mutant- CRMP1 variants affect neurite outgrowth of murine cortical neurons. While altered CRMP1 levels have been reported in psychiatric diseases, genetic mutation in CRMP1 gene has never been linked to human disease. We report for the first-time mutations in the CRMP1 gene and emphasize its key role in brain development and function by linking directly to a human neurodevelopmental disease.

We appreciated the concerns of Dr Kavčič¹ for the terminological issues, namely, idiopathic cerebral palsy (CP) and CP-related genes, in our recent paper entitled ‘In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy’.² We believed that the definition of idiopathic CP and CP-related genes were specified in this work to describe the research background and the main findings, respectively, and these two terms have been evolving per se, following the progress of basic and clinical studies on CP aetiology.

Metal mirrors, represented by alμminiμm alloys, have soft and easily damaged surfaces and can be coated with a nickel- phosphorus alloy by means of chemical nickel plating prior to polishing. In order to obtain better processing results, the characteristics of the nickel-phosphorus alloy must be studied. In this paper, the nickel-phosphorus alloy was characterised by means of a hardness tester and EDS, and the experimental results show that the nickel-phosphorus coating has a Vickers hardness of 566 Hv. Depending on the properties of the coating, magnetorheological polishing was carried out using different types of polishing abrasive grains. By comparing the surface roughness after processing, silicon dioxide was selected as the polishing abrasive particle and magnetorheological fluid parameters such as pH value were adjusted to obtain a removal function with a volμme removal efficiency of 5.22 x 10⁷μm³ /min. At the same time, combining different processes such as CCOS polishing and analysing the processing principle, the obtained surface roughness Ra value is better than 0.5nm, exploring the process route of nickel-phosphorus coating and providing technical support for the subsequent processing.

Sub-nanometer precision optical components are widely used in optical systems. As the key equipment of sub-nanometer precision calculation, the dynamic performance of ion beam figuring equipment is very important. However, most studies have focused on optimizing ion beam figuring processes; However, the research on the dynamic performance of machine tools with sub-nanometer precision is not sufficient and comprehensive. At present, most of the research is limited to the analysis of plane machining, that is, only the dynamic performance of the scanning axis is analyzed. As the surface shape changes from plane to surface, the accuracy requirement is from nanometer to sub-nanometer, so the influence of the scanning axis cannot be simply considered. The dynamic performance of the target distance axis of three-axis ion beam figuring equipment under different surface shape characteristics and removal function characteristics of the sub-nanometer machining process was analyzed theoretically and simulated. The results of this study can promote the application of three-axis ion beam figuring equipment in the manufacture of complex surfaces and high-precision optical components.