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Phosphorylation of AMPK increased after the suppression of O-GlcNAcylation. We found that O-GlcNAcylation of AMPK suppressed the activity of this regulator, thereby inhibiting ULK1 activity and autophagy. Conclusion We characterized a new function of O-GlcNAcylation in the suppression of autophagy via regulation of AMPK. Graphical abstract Blockage of O-linked GlcNAcylation induces AMPK dependent autophagy in bladder cancer cells. © The Author(s) 2020.Objective This study reports a Chinese patient with a Congenital Disorder of Glycosylation (CDG) caused by compound-heterozygous mutations in the Conserved Oligomeric Golgi 5 (COG5) gene and thereby offers concrete evidence for early diagnosis. Methods The clinical manifestations, the results of laboratory examinations and genetic analysis of a 4-year-old Chinese girl with CDG are reported. We also reviewed previous CDG cases that involved COG5 mutations by comparing the phenotypes and genotypes in different cases. Results The patient was admitted to our hospital due to ataxia and psychomotor delay. The major clinical manifestations were postural instability, difficulty in walking, psychomotor delay, hypohidrosis, hyperkeratosis of the skin, and ulnar deviation of the right-hand fingers. Biochemical analyses revealed coagulation defect and liver lesions. Vision tests showed choroidopathy and macular hypoplasia. Whole-exome sequencing identified the hitherto unreported compound-heterozygous COG5 mutations, c.1290C > A (p.Y430X) and c.2077A > C (p.T693P). Mutation p.Y430X is nonsense, leading to a truncated protein. Mutation p.T693P is located at a highly conserved region, and thus the polar-to-non-polar substitution presumably affects the structure and function of COG5. According to the Human Genome Mutation Database Professional, there have been totally 13 CDG cases caused by 13 COG5 mutations. They are mainly characterized by psychomotor delay, hypotonia, ataxia, microcephaly, and hearing and visual abnormalities. Conclusion The clinical manifestations of the patient are mild but consistent with the clinical characteristics of the published COG5-CDG cases. The results of this study extend the spectrum of clinical and genetic findings in COG5-CDG. Copyright © 2020 Wang, Han, Wang, Wang, Li, Jin and Wang.Exploring the evolution process of cancers and its related complex molecular mechanisms at the genomic level through pathological staging angle is particularly important for providing novel therapeutic strategies most relevant to every cancer patient diagnosed at each stage. This is because the genomic level involving copy number variation (CNV) has been recognized as a critical genetic variation, which has a large influence on the progression of a variety of complex diseases. Great efforts have been devoted to the identification of recurrent aberrations, single genes and individual static pathways related to cancer progression. https://www.selleckchem.com/products/a1874.html However, we still have little knowledge about the most important aberrant genes related to the pathology stages and their interconnected pathways from genomic profiles. In this study, we propose an identification framework that allows determining cancer-stages specific patterns dynamically. Firstly, a two-stage GAIA method is employed to identify stage-specific aberrant copy number variants segments. Secondly, stage-specific cancer genes fully located within the aberrant segments are then identified according to the reference annotation dataset. Thirdly, a pathway evolution network is constructed based on the impacted pathways functions and their overlapped genes. The involved significant functions and evolution paths uncovered by this network enabled investigation of the real progression of cancers, and thus facilitated the determination of appropriate clinical settings that will help to assess risk in cancer patients. Those findings at individual levels can be integrated to identify robust biomarkers in cancer progressions. Copyright © 2020 Aouiche, Chen and Shang.[This corrects the article DOI 10.3389/fgene.2019.01259.]. Copyright © 2020 Wang and Yan.Small supernumerary marker chromosomes (SMCs) are rare cytogenetic abnormalities. De novo small SMCs, particularly those combined with uniparental disomy (UPD), are assumed to result from incomplete trisomy rescue. Recently, a one-off cellular event designated as chromothripsis was reported as a mechanism for trisomy rescue in micronuclei. This Perspective article aims to highlight a possible association among trisomy rescue, chromothripsis, and SMCs. We propose that chromothripsis-mediated incomplete trisomy rescue in micronuclei underlies various chromosomal rearrangements including SMCs, although other mechanisms such as U-type exchange may also yield SMCs. These assumptions are primarily based on observations of previously reported patients with complex rearrangements and our patient with a small SMC. Given the high frequency of trisomic cells in human preimplantation embryos, chromothripsis-mediated trisomy rescue may be a physiologically important phenomenon. Nevertheless, trisomy rescue has a potential to produce UPD, SMCs, and other chromosomal rearrangements. The concepts of trisomy rescue, chromothripsis, and micronuclei provide novel insights into the mechanism for the maintenance and modification of human chromosomes. Copyright © 2020 Matsubara, Yanagida, Nagai, Kagami and Fukami.The RNA polymerase II transcription subunit 12 homolog (MED12) is a member of the mediator complex, which plays a critical role in RNA transcription. Mutations in MED12 cause X-linked intellectual disability and other anomalies collectively grouped as MED12-related disorders. While MED12 mutations have been most commonly reported in male patients, we present the case of a 1-year-old girl with clinical characteristics similar to MED12-related disorders. To explore the clinical characteristics of the condition and its possible pathogenesis, we analyzed the patient's clinical data; genetic testing by whole-exome sequencing revealed a de novo heterozygous mutation (c.1249-1G > C) in MED12. Further cDNA experiments revealed that the patient had an abnormal splicing at the skipping of exon9, which may have produced a truncated protein. qPCR showed decreased MED12 gene expression level in the patient, and an X-chromosome inactivation test confirmed a skewed inactivation of the X-chromosome. The lymphoblast transcription levels of the genes involved in the Gli3-dependent sonic hedgehog (SHH) signaling pathway, namely, CREB5, BMP4, and NEUROG2, were found to be significantly elevated compared with those of her parents and sex- and age-matched controls.
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