RBM3 is an outstanding cold shock protein with multiple physiological functions beyond hypothermia.

RNA-binding motif protein 3 (RBM3), an outstanding cold shock protein, is rapidly upregulated to ensure homeostasis and survival in a cold environment, which is an important physiological mechanism in response to cold stress. Meanwhile, RBM3 has multiple physiological functions and participates in the regulation of various cellular physiological processes, such as antiapoptosis, circadian rhythm, cell cycle, reproduction, and tumogenesis. The structure, conservation, and tissue distribution of RBM3 in human are demonstrated in this review. Herein, the multiple physiological functions of RBM3 were summarized based on recent research advances. Meanwhile, the cytoprotective mechanism of RBM3 during stress under various adverse conditions and its regulation of transcription were discussed. In addition, the neuroprotection of RBM3 and its oncogenic role and controversy in various cancers were investigated in our review.

Giant two-photon absorption in MXene quantum dots.

Looking for materials with compelling nonlinear optical (NLO) response is of great importance for next-generation nonlinear nanophotonics. We demonstrate an escalated two-photon absorption (TPA) in ultrasmall niobium carbide quantum dots (Nb2C QDs) that is induced by a two-even-parity states transition. The TPA response of Nb2C QDs was observed in the near-infrared band of 1064-1550 nm. Surprisingly, at 1064 nm, Nb2C QDs shows an enhanced TPA response than other wavelengths with a nonlinear absorption coefficient up to a value of 0.52 ± 0.05 cm/GW. Additionally, the nonlinear optical response of Nb2C changes to saturable absorption when the incident wavelength is between 400-800 nm wavelength. Density functional theory (DFT) validates that TPA, induced by two even-parity states transition, breaks the forbidden single-photon transition, enabling a tremendous TPA response in Nb2C QDs at 1064 nm. It offers the possibility of manipulating the NLO response of Nb2C via morphology or surface termination.

Highly Efficient Multiphoton Absorption of Zinc-AIEgen Metal-Organic Frameworks.

A series of luminescent frameworks was synthesized from the selective combination of aggregation induced emission (AIE)-linker tetra-(4-carboxylphenyl)ethylene (H4 TCPE) and Zn2+ . Complex 1 was formed by the close packing of Zn-TCPE hinge, and isostructural complexes 2-5 were constructed by the linkage of Zn-TCPE layer and pillar ligands. These complexes exhibit highly efficient multiphoton excited photoluminescence (MEPL) and concomitant third-harmonic generation (THG). The multiphoton absorption (MPA) parameters of 1 are superior to other multiphoton emission materials including the perovskite nanocrystals. The incorporation of pillar linkers slows down the charge transfer between layers of Zn-TCPE, and the aromatic core of pillar linkers has a great influence on the MPA performance of the corresponding frameworks.

Near-Infrared Afterglow Semiconducting Nano-Polycomplexes for the Multiplex Differentiation of Cancer Exosomes.

The detection of exosomes is promising for the early diagnosis of cancer. However, the development of suitable optical sensors remains challenging. We have developed the first luminescent nanosensor for the multiplex differentiation of cancer exosomes that bypasses real-time light excitation. The sensor is composed of a near-infrared semiconducting polyelectrolyte (ASPN) that forms a complex with a quencher-tagged aptamer. The afterglow signal of the nanocomplex (ASPNC), being initially quenched, is turned on in the presence of aptamer-targeted exosomes. Because detection of the afterglow takes place after the excitation, background signals are minimized, leading to an improved limit of detection that is nearly two orders of magnitude lower than that of fluorescence detection in cell culture media. Also, ASPNC can be easily tailored to detect different exosomal proteins by changing the aptamer sequence. This enables an orthogonal analysis of multiple exosome samples, potentially permitting an accurate identification of the cellular origin of exosomes for cancer diagnosis.

[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].

OBJECTIVE: To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency. METHODS: Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing. RESULTS: The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls. CONCLUSION: The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.

Polymer-Surface-Mediated Mechanochemical Reaction for Rapid and Scalable Manufacture of Perovskite QD Phosphors.

Perovskite quantum dots (QDs) have been considered new-generation emitters for lighting and displays due to their high photoluminescence (PL) efficiency, and pure color. However, their commercialization process is currently hindered by the challenge of mass production in a quick and environmentally friendly manner. In this study, a polymer-surface-mediated mechanochemical reaction (PMR) is proposed to prepare perovskite QDs using a high-speed multifunction grinder for the first time. PMR possesses two distinctive features: i) The ultra-high rotating speed (>15 000 rpm) of the grinder facilitates the rapid conversion of the precursor to perovskite; ii) The surface-rich polymer particulate ensures QDs with high dispersity, avoiding QD aggregation-induced PL quenching. Therefore, PMR can successfully manufacture green perovskite QDs with a high PL quantum yield (PLQY) exceeding 90% in a highly material- (100% yield), time- (1 kg min-1), and effort- (solvent-free) efficient manner. Moreover, the PMR demonstrates remarkable versatility, including synthesizing by various polymers and producing diverse colored and Pb-free phosphors. Importantly, these phosphors featuring a combination of polymer and perovskite, are facilely processed into various solid emitters. The proposed rapid, green, and scalable approach has great potential to accelerate the commercialization of perovskite QDs.

Inhibition of human UDP-glucuronosyltransferase enzyme by entrectinib: Implications for drug-drug interactions.

As a new type of oral tyrosine kinase inhibitor, entrectinib can act on multiple targets and exert efficacy and has been approved for the treatment of non-small cell lung cancer (NSCLC) and solid tumors. However, whether entrectinib affects the activities of recombinant human UDP-glucuronosyltransferases (UGTs) remains unclear. Herein, we aimed to investigate the inhibitory effects of entrectinib on human UGTs and to assess the potential risk of causing drug-drug interactions (DDIs) based on the inhibition against UGTs. High-performance liquid chromatography (HPLC) was used to evaluate the inhibitory effects of entrectinib on UGTs according to the product formation rate of UGT substrate with or without entrectinib, and the inhibition kinetics experiment was conducted to assess the inhibitory type of entrectinib on UGTs. Our results showed that entrectinib exhibited extensive inhibitory effects on most human UGTs, and especially inhibited the activities of UGT1A7, UGT1A8, and UGT2B15 with Ki (Inhibition constant) of lower than 5 µM (0.95-4.38 µM). Furthermore, the results from quantitative prediction research suggested that the combination of entrectinib at 600 mg/day with substrates primarily metabolized by hepatic UGT2B15 or intestinal UGT1A7 and UGT1A8 might cause clinical DDIs. Thus, special attention should be paid to avoid adverse reactions induced by DDIs when co-administration of entrectinib and drugs metabolized by UGTs.

Spermidine-Functionalized Injectable Hydrogel Reduces Inflammation and Enhances Healing of Acute and Diabetic Wounds In Situ.

The inflammatory response is a key factor affecting tissue regeneration. Inspired by the immunomodulatory role of spermidine, an injectable double network hydrogel functionalized with spermidine (DN-SPD) is developed, where the first and second networks are formed by dynamic imine bonds and non-dynamic photo-crosslinked bonds respectively. The single network hydrogel before photo-crosslinking exhibits excellent injectability and thus can be printed and photo-crosslinked in situ to form double network hydrogels. DN-SPD hydrogel has demonstrated desirable mechanical properties and tissue adhesion. More importantly, an "operando" comparison of hydrogels loaded with spermidine or diethylenetriamine (DETA), a sham molecule resembling spermidine, has shown similar physical properties, but quite different biological functions. Specifically, the outcomes of 3 sets of in vivo animal experiments demonstrate that DN-SPD hydrogel can not only reduce inflammation caused by implanted exogenous biomaterials and reactive oxygen species but also promote the polarization of macrophages toward regenerative M2 phenotype, in comparison with DN-DETA hydrogel. Moreover, the immunoregulation by spermidine can also translate into faster and more natural healing of both acute wounds and diabetic wounds. Hence, the local administration of spermidine affords a simple but elegant approach to attenuate foreign body reactions induced by exogenous biomaterials to treat chronic refractory wounds.

[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].

OBJECTIVE: To detect potential mutation in ALDH5A1 gene for a family affected with succinic semialdehyde dehydrogenase deficiency diagnosed by clinical inspection and urine screening. METHODS: Polymerase chain reaction and direct DNA sequencing were carried out for the affected child and her parents. Suspected ALDH5A1 gene mutations were verified in 100 healthy controls to exclude polymorphisms. RESULTS: The child was found to have carried 2 heterozygous missense mutations in the coding region of ALDH5A1 gene, namely c.527G>A and c.691G>A, for which her mother and father were respectively heterozygotes. The same mutations were not detected in 100 healthy controls. The child was also found to have carried two previously described polymorphisms including a heterozygous c.545C>T(derived from her father) and a homozygous c.538C>T(derived from her mother). CONCLUSION: Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are responsible for the pathogenesis of the disease in this family.

A ligand strategy retarding monovalent copper oxidation toward achieving Cs3Cu2I5 perovskite emitters with enhanced stability for lighting.

0D copper-based perovskites (Cs3Cu2I5) have fascinating optical properties, such as strong exciton binding energy, high photoluminescence quantum yield (PLQY) and large Stokes shifts from self-trapped excitons (STEs), which make them highly considerable candidates in the field of lighting. However, the stability of Cs3Cu2I5 is compromised by the oxidation of Cu+ to Cu2+ during the storage or operation process. Here, we proposed a ligand engineering strategy to improve the stability of Cs3Cu2I5via an organic molecule (ethylenediaminetetraacetic acid, EDTA) with multiple functional groups. The strong interaction between carboxyl groups and Cu+ was evidenced through FTIR and XPS, and it could retard monovalent copper oxidation. After storing for 90 days, the EDTA-engineered Cs3Cu2I5 (EDTA-Cs3Cu2I5) maintained its original crystalline structure, while the control Cs3Cu2I5 exhibited an impurity phase. Through quantitative analysis, the content of Cu2+ in EDTA-Cs3Cu2I5 was found to be 83.9% lower than that in control Cs3Cu2I5. Benefiting from the inhibition of Cu+ oxidation, EDTA-Cs3Cu2I5 exhibited improved light emission stability. For example, the optimized EDTA-Cs3Cu2I5 retained 74.7% of the initial photoluminescence (PL) intensity after 90-day storage under ambient conditions, while the pure Cs3Cu2I5 retained only 41.7%. Furthermore, EDTA could passivate defects and enhance the PL properties of the optimized Cs3Cu2I5, which showed a PLQY of 94.7%, much higher than that of 71.4% for pure Cs3Cu2I5. We further constructed a WLED based on the EDTA-engineered Cs3Cu2I5, which showed CIE at (0.3238, 0.3354), a CRI of 91.7, and a T50 of 361 h. The proposed EDTA ligand strategy provides a new way to regulate the light-emitting properties and stabilities of Cs3Cu2I5 for future industrialization.

BARN: Behavior-Aware Relation Network for multi-label behavior detection in socially housed macaques.

Quantification of behaviors in macaques provides crucial support for various scientific disciplines, including pharmacology, neuroscience, and ethology. Despite recent advancements in the analysis of macaque behavior, research on multi-label behavior detection in socially housed macaques, including consideration of interactions among them, remains scarce. Given the lack of relevant approaches and datasets, we developed the Behavior-Aware Relation Network (BARN) for multi-label behavior detection of socially housed macaques. Our approach models the relationship of behavioral similarity between macaques, guided by a behavior-aware module and novel behavior classifier, which is suitable for multi-label classification. We also constructed a behavior dataset of rhesus macaques using ordinary RGB cameras mounted outside their cages. The dataset included 65 913 labels for 19 behaviors and 60 367 proposals, including identities and locations of the macaques. Experimental results showed that BARN significantly improved the baseline SlowFast network and outperformed existing relation networks. In conclusion, we successfully achieved multi-label behavior detection of socially housed macaques with both economic efficiency and high accuracy.

O-GlcNAcylation: The Underestimated Emerging Regulators of Skeletal Muscle Physiology.

O-GlcNAcylation is a highly dynamic, reversible and atypical glycosylation that regulates the activity, biological function, stability, sublocation and interaction of target proteins. O-GlcNAcylation receives and coordinates different signal inputs as an intracellular integrator similar to the nutrient sensor and stress receptor, which target multiple substrates with spatio-temporal analysis specifically to maintain cellular homeostasis and normal physiological functions. Our review gives a brief description of O-GlcNAcylation and its only two processing enzymes and HBP flux, which will help to better understand its physiological characteristics of sensing nutrition and environmental cues. This nutritional and stress-sensitive properties of O-GlcNAcylation allow it to participate in the precise regulation of skeletal muscle metabolism. This review discusses the mechanism of O-GlcNAcylation to alleviate metabolic disorders and the controversy about the insulin resistance of skeletal muscle. The level of global O-GlcNAcylation is precisely controlled and maintained in the "optimal zone", and its abnormal changes is a potential factor in the pathogenesis of cancer, neurodegeneration, diabetes and diabetic complications. Although the essential role of O-GlcNAcylation in skeletal muscle physiology has been widely studied and recognized, it still is underestimated and overlooked. This review highlights the latest progress and potential mechanisms of O-GlcNAcylation in the regulation of skeletal muscle contraction and structural properties.

Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis.

BACKGROUND: Autoimmune encephalitis (AE) is a type of encephalopathy mediated by an antigenic immune response in the central nervous system. Most research related to autoimmune encephalitis (AE) is focused on early diagnosis, treatment and prognosis analysis; there has been little research conducted on the characteristics of immune function, and the relationship between immune function and prognoses of patients with autoimmune encephalitis needs to be studied further. METHODS: A total of 33 children with autoimmune encephalitis were identified through the clinic database and inpatient consults at Tianjin Children's Hospital from January 2013 to January 2021. Based on the one-year follow-up and the modified Rankin Scale (mRS) prognosis score, they were divided into a good prognosis group and a poor prognosis group. The immune function characteristics of the two groups of children with autoimmune encephalitis (AE) were compared using Spearman correlation to analyse the mRS score and immune function indicators (IgA, IgG, IgM, CD4, CD8, CD4/CD8), and binary logistic regression was used to analyse the independent risk factors of the prognoses in patients with autoimmune encephalitis (AE). RESULTS: The differences in abnormal mental disorders and limb dyskinesia, cognitive impairment, onset types, modified Rankin Scale (mRS) scores at admission, and immune function status during remission between the two groups were statistically significant (p < 0.05). CONCLUSION: There is a close correlation between modified Rankin Scale (mRS) scores and the immune function index CD4/CD8 in children with autoimmune encephalitis (AE) when they are admitted to the hospital. A young age, disturbance of consciousness, limb dyskinesia, abnormal immune function in remission and anti-NMDAR encephalitis are risk factors for poor prognoses in children with autoimmune encephalitis (AE). Clinical treatment requires more attention.

Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.

Background: Isovaleric acidaemia (IVA), characterized by an acute metabolic crisis and psychomotor delay, is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD). Methods: We report the case of a Chinese patient with IVA who was admitted to Tianjin Children's Hospital and followed up for 8 years. Genetic analysis of the patient and his parents was conducted using the whole-exome sequencing and Sanger sequencing. We searched for similar reported cases in the PubMed and Wanfang databases using the term "isovaleric acidaemia," reviewed the related literature to obtain a summary of the clinical and genetic characteristics, and analyzed the genotype-phenotype correlations. Results: The patient presented with encephalopathic symptoms, such as vomiting, lethargy, and somnolence. We identified compound heterozygous variants of the IVD gene, including the unreported variant c.224A>G (p.Asn75Ser) and the reported variant c.1195G>C (p.Asp399His). The child was prescribed a low-protein diet supplemented with L-carnitine. During the 8-year follow-up, no metabolic disorder or encephalopathic symptoms recurred. At present, the child is 11 years of age and has normal mental and motor performance. Another 154 cases identified in 25 relevant references were combined with this case, resulting in a sample of 155 patients, including 52 asymptomatic patients, 64 with neonatal onset, and 39 with the chronic intermittent disease with onset from ages of 1 month to 10 years (median age, 2 years). Among articles that reported sex, the male-to-female ratio was 1:1.06. The cardinal symptoms included vomiting, lethargy, "sweaty foot" odor, poor feeding, developmental delay, and epilepsy. The proportion of variants in regions 123-159 and 356-403 of the IVD protein was greater in symptomatic patients than in asymptomatic patients. Conversely, in asymptomatic patients, the proportion of variants in the 282-318 region was greater than in symptomatic patients. Conclusion: This case report describes an unreported variant c.224A>G (p.Asn75Ser) of the IVD gene, and summarizes previously reported cases. Furthermore, the correlation between the genotype and clinical phenotype of IVA is analyzed to improve the understanding of this disease.

Origin of the Efficient Nonlinear Optical Response of Two-Dimensional Layered CuFeTe2 Nanosheets.

Two-dimensional ternary transition metal chalcogenides (TMCs) have aroused great research interest owing to outstanding semiconducting properties and diverse magnetic response. CuFeTe2, as a typical TMC, exhibits ambiguous magnetic behavior and ground state of spin density waves nature. Herein, we first report efficient nonlinear absorption and superior nonlinear refraction of CuFeTe2 nanosheets. The nonlinear absorption and refraction coefficients reach -0.22 cm/GW and -1.66 × 10-12 cm2/W, respectively. Semiempirical theory for direct bandgap semiconductors was applied to estimate the nonlinearities of CuFeTe2 nanosheets. The calculation results indicate that the efficient nonlinearities stem from the free carrier induced band filling effect.

Direct and indirect effects and feedbacks of biomass burning aerosols over Mainland Southeast Asia and South China in springtime.

Southeast Asia is one of the largest biomass burning (BB) source regions in the world. In order to promote our understanding of BB aerosol characteristics and environmental impacts, this study investigated the emission, composition, evolution, radiative effects, and feedbacks of BB aerosols from Mainland Southeast Asia during 15 March to 15 April 2019 by using an online-coupled regional chemistry/aerosol-climate model RIEMS-Chem. Model results are compared against a variety of ground and vertical observations, indicating a generally good model performance for meteorology, aerosol chemical compositions, and aerosol optical properties. It is found that BB aerosols contributed significantly to regional particulate matter (PM), accounting for up to 90 % of the near-surface PM2.5, BC, and OC concentrations over the BB source regions of north Mainland Southeast Asia and for approximately 30-70 % over wide downwind areas including most areas of southwest China and portions of south China. At the top of atmosphere (TOA), BB aerosols exerted a positive all-sky radiative effect (DREBB) up to 25 W/m2 over north Vietnam and south China, a negative DREBB up to -10 W/m2 over Myanmar, western Thailand, and southwest China. Meanwhile, the indirect radiative effect (IREBB) was consistently negative, with the maximum of -10 W/m2 over downwind areas with cloud coverage, e.g., from north Vietnam to most of south China. The subregional (95-125°E and 10-30°N) and period mean DREBB and IREBB at TOA were estimated to be 0.69 W/m2 and - 0.63 W/m2, respectively, leading a total radiative effect (TREBB) of 0.06 W/m2 at TOA. The radiative effects of BB aerosols led to decreases in sensible and latent heat fluxes, near-surface temperature, PBL height, and wind speed of 6.0 Wm-2, 9.0 Wm-2, 0.26 °C, 38.7 m, and 0.1 m/s, respectively, accompanied with an increase in RH of 1.9 %, averaged over the subregion and the study period. The accumulated precipitation during the study period was apparently reduced by BB aerosols from east Thailand to south China, with the maximum reduction up to 14 cm (exceeding 40 %) over north Vietnam and south China. TREBB tended to increase mean near-surface PM2.5 and its component concentrations, with the maximum percentage increase up to 24 % over the BB source regions of north Mainland Southeast Asia, resulting from the combined effects of dynamic and chemical feedbacks. DREBB generally dominated over IREBB in the feedback-induced PM2.5 concentration changes.

DGL-LifeSci: An Open-Source Toolkit for Deep Learning on Graphs in Life Science.

Graph neural networks (GNNs) constitute a class of deep learning methods for graph data. They have wide applications in chemistry and biology, such as molecular property prediction, reaction prediction, and drug-target interaction prediction. Despite the interest, GNN-based modeling is challenging as it requires graph data preprocessing and modeling in addition to programming and deep learning. Here, we present Deep Graph Library (DGL)-LifeSci, an open-source package for deep learning on graphs in life science. Deep Graph Library (DGL)-LifeSci is a python toolkit based on RDKit, PyTorch, and Deep Graph Library (DGL). DGL-LifeSci allows GNN-based modeling on custom datasets for molecular property prediction, reaction prediction, and molecule generation. With its command-line interfaces, users can perform modeling without any background in programming and deep learning. We test the command-line interfaces using standard benchmarks MoleculeNet, USPTO, and ZINC. Compared with previous implementations, DGL-LifeSci achieves a speed up by up to 6×. For modeling flexibility, DGL-LifeSci provides well-optimized modules for various stages of the modeling pipeline. In addition, DGL-LifeSci provides pretrained models for reproducing the test experiment results and applying models without training. The code is distributed under an Apache-2.0 License and is freely accessible at https://github.com/awslabs/dgl-lifesci.

Online bioinformatics teaching practice: Comparison of popular docking programs using SARS-CoV-2 spike RBD-ACE2 complex as a benchmark.

In this information era, there is an urgent need for tighter integration of bioinformatics and experimental biology. The enormous amount of data generated by biological experiments calls for extensive computational analysis. Many bioinformatics textbooks at present mainly focus on theories, which hinders the vigorous development of scientific research. As a result, most students are simply familiar with the bioinformatics theories but lack the opportunity to put them into practice. Here, we present our bioinformatics docking project conducted during the self-isolation period of the COVID-19 pandemic. Five students used the RBD-ACE2 complex as a benchmark to conduct a systematic comparison of several open-source online molecular docking programs. The virus surface spike protein mediates the entry of the SARS-CoV-2 virus into human cells by binding to its receptor, angiotensin-converting enzyme 2 (ACE2), through its receptor-binding domain (RBD). Through docking and comparing predicted structures to the crystal structure, students gained the opportunity to practice different bioinformatics tools independently and conduct research collaboratively. It opens a window for students to reach out to the state-of-the-art bioinformatics techniques and to keep up with the research trends. The online workshop has also proven to be an innovative method for bioinformatics teaching. We hope our work can inspire other educators to develop strategies to expose undergraduate students to modern bioinformatics and turn every temporary difficulty into a possible learning opportunity.

Sponge-like N-doped carbon materials with Co-based nanoparticles derived from biomass as highly efficient electrocatalysts for the oxygen reduction reaction in alkaline media.

The development of highly efficient and low-cost catalysts towards Oxygen Reduction Reaction (ORR) is of significance for renewable energy technologies such as proton-exchange membrane fuel cells and metal-air batteries. This study is to utilize the biomass of soybean straw as the supporting carbon materials to prepare nitrogen and cobalt dual-doped porous biocarbon electrocatalysts (CoNASS) possessing high content of N (1.92%), embedding cobalt nanoparticles and sponge-like structure with high specific surface area (1185.00 m2 g-1) as well as appropriate pore diameter (∼2.17 nm). Meantime, CoNASS exhibits a good electrocatalytic activity with a half-wave potential of 0.786 V (vs. RHE), comparable to a half-wave potential of 0.827 V (vs. RHE) for the commercial Pt/C. The detections of electrochemical kinetics show the electron transfer number of CoNASS is in the range of 3.84-3.92, which indicates 4-electron pathway dominantly occurs in ORR. And the limiting diffusion current density of CoNASS at 1600 rpm is around 5.8 mA cm-2 slightly higher than that of the benchmark Pt/C (5.6 mA cm-2). This work opens a new avenue to utilize soybean straw, one of agriculture waste of large quantity, to prepare high efficient and low-cost catalysts for ORR.

Clinical and genetic analysis of 7 Chinese patients with ß-ureidopropionase deficiency.

ß-Ureidopropionase (ßUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of ß-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with ßUP deficiency.We reported 7 Chinese patients with ßUP deficiency who were admitted at Tianjin Children's Hospital. Urine metabolomics was detected by gas chromatography-mass spectrometry (GC-MS). Then genetic testing of UPB1 was conducted by polymerase chain reaction (PCR) method.The patients presented with developmental delay, seizures, autism, abnormal magnetic resonance imaging, and significantly elevated levels of N-carbamyl-ß-alanine and N-carbamyl-ß-aminoisobutyric acid in urine. Subsequent analysis of UPB1 mutation revealed 2 novel missense mutations (c.851G>T and c.853G>A), 3 previously reported mutations including 2 missense mutations (c.977G>A and c.91G>A) and 1 splice site mutation (c.917-1 G>A).The results suggested that the UPB1 mutation may contribute to ßUP deficiency. The c.977G>A is the most common mutation in Chinese population.