Eg5 UFMylation promotes spindle organization during mitosis.

UFMylation is a highly conserved ubiquitin-like post-translational modification that catalyzes the covalent linkage of UFM1 to its target proteins. This modification plays a critical role in the maintenance of endoplasmic reticulum proteostasis, DNA damage response, autophagy, and transcriptional regulation. Mutations in UFM1, as well as in its specific E1 enzyme UBA5 and E2 enzyme UFC1, have been genetically linked to microcephaly.

Strategic Implementation of Fragile X Carrier Screening in China: A Focused Pilot Study.

Fragile X syndrome is the leading genetic cause of intellectual disability and autism spectrum disorders. Female premutation carriers exhibit no obvious symptoms during reproductive age, but the premutation allele can expand to full mutation when transmitted to the fetus. Given the relatively low prevalence but large population, the distinct health care system, the middle-income economic status, and low awareness among public and medical professionals, the optimal genetic screening strategy remains unknown.

Taurocholic acid ameliorates hypertension through the activation of TGR5 in the hypothalamic paraventricular nucleus.

Diets rich in taurine can increase the production of taurine-conjugated bile acids, which are known to exert antihypertensive effects. Despite their benefits to the heart, kidney and arteries, their role in the central nervous system during the antihypertensive process remains unclear. Since hypothalamic paraventricular nucleus (PVN) plays a key role in blood pressure regulation, we aimed to investigate the function of bile acids in the PVN.

Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China.

Fragile X syndrome is the most common inherited cause of intellectual disability. Considering China's low prevalence, distinct healthcare system, middle-income economic status, and unique culture, China cannot simply replicate the screening systems in European and American countries. In this study, we investigated the attitudes of 450 Chinese medical professionals who received fragile X training on fragile X carrier screening and genetic counseling.

Breaking the Barrier: Strategies for Mitigating Shuttle Effect in Lithium-Sulfur Batteries Using Advanced Separators.

Lithium-sulfur (Li-S) batteries are considered one of the most promising energy storage systems due to their high theoretical capacity, high theoretical capacity density, and low cost. However, challenges such as poor conductivity of sulfur (S) elements in active materials, the "shuttle effect" caused by lithium polysulfide, and the growth of lithium dendrites impede the commercial development of Li-S batteries. As a crucial component of the battery, the separator plays a vital role in mitigating the shuttle effect caused by polysulfide.

Electrospinning-Based Biosensors for Health Monitoring.

In recent years, many different biosensors are being used to monitor physical health. Electrospun nanofiber materials have the advantages of high specific surface area, large porosity and simple operation. These properties play a vital role in biosensors.

Loss of Drosophila NUS1 results in cholesterol accumulation and Parkinson's disease-related neurodegeneration.

NgBR is the Nogo-B receptor, encoded by NUS1 gene. As NgBR contains a C-terminal domain that is similar to cis-isoprenyltransferase (cis-IPTase), NgBR was speculated to stabilize nascent Niemann-Pick type C 2 (NPC2) to facilitate cholesterol transport out of lysosomes. Mutations in the NUS1 were known as risk factors for Parkinson's disease (PD).

Reducing the Excess Activin Signaling Rescues Muscle Degeneration in Myotonic Dystrophy Type 2 Model.

Expanded non-coding RNA repeats of CCUG are the underlying genetic causes for myotonic dystrophy type 2 (DM2). There is an urgent need for effective medications and potential drug targets that may alleviate the progression of the disease. In this study, 3140 small-molecule drugs from FDA-approved libraries were screened through lethality and locomotion phenotypes using a DM2 model expressing 720 CCTG repeats in the muscle.

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.

Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hypermethylated and is transcriptionally silenced, resulting in FXS. Other allelic forms of the gene that are studied because of their instability or phenotypic consequence include intermediate alleles (45-54 CGG repeats) and premutation alleles (55-200 repeats).

The UFM1 cascade times mitosis entry associated with microcephaly.

Posttranslational modifications enhance the functional diversity of the proteome by modifying the substrates. The UFM1 cascade is a novel ubiquitin-like modification system. The mutations in UFM1, its E1 (UBA5) and E2 (UFC1), have been identified in patients with microcephaly.

[The mechanism of DNA damage checkpoint control].

DNA damage caused by many factors may lead to missense mutation, deletion or illegal recombination. To maintain genomic integrity, cells have evolved complex surveillance mechanisms termed cell cycle checkpoint. DNA damage checkpoint composed of various checkpoint-related proteins can sense DNA damage and execute cell cycle arrest through different signaling transduction pathway involving protein kinase cascades, thereby allowing time for cells to repair the damaged DNA.