Article
Endocrinology & Metabolism
Mu Zhang, Chunjie Yang, Meng Zhu, Li Qian, Yan Luo, Huimin Cheng, Rong Geng, Xiaojun Xu, Cheng Qian, Yu Liu
Summary: This study revealed that saturated fatty acids disrupt nucleocytoplasmic transport and induce stress granule (SG) formation in pancreatic beta cells. The formation of SGs is mediated by the phosphoinositide 3-kinase (PI3K)/eukaryotic translation initiation factor 2 alpha (EIF2 alpha) pathway, and may be linked to beta cell dysfunction. Disruption of SG assembly may be a potential therapeutic strategy for treating obesity and type 2 diabetes.
Article
Multidisciplinary Sciences
Elizabeth Vincent, Sumantra Chatterjee, Gabrielle H. Cannon, Dallas Auer, Holly Ross, Aravinda Chakravarti, Loyal A. Goff Ad
Summary: Through single-cell RNA sequencing on RET-deficient mice, it is found that RET plays a critical role in the fate specification, neuronal differentiation, and gene regulatory network of enteric neural crest-derived cells (ENCDCs) during enteric nervous system (ENS) development. RET deficiency leads to precocious differentiation and reduction in the number of proliferating ENS precursors.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biochemistry & Molecular Biology
Mi Gyeong Jeong, Hyo Kyeong Kim, Gibbeum Lee, Hee Yeon Won, Da Hye Yoon, Eun Sook Hwang
Summary: TAZ is a key mediator of the Hippo signaling pathway and plays an important role in the pancreas. TAZ deficiency leads to shrinkage of pancreatic islet cells and decreased insulin production, causing hyperglycemia. TAZ and PDX1 work together in the pancreas to promote insulin production. TAZ deficiency impairs the differentiation of mesenchymal stem cells into insulin-producing cells, while TAZ recovery restores normal differentiation.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Medicine, General & Internal
Anna Djos, Diana Treis, Susanne Fransson, Lena Gordon Murkes, Sandra Wessman, Jurate Asmundsson, Agneta Markstrom, Per Kogner, Tommy Martinsson
Summary: This study reports a de novo germline ALK F11741 mutation, which may predispose to congenital multifocal neuroblastoma and contribute to respiratory dysfunction in the patient.
Article
Biochemistry & Molecular Biology
Rahul Sharma, Sujay K. Maity, Partha Chakrabarti, Madhumohan R. Katika, Satyamoorthy Kapettu, Kishore V. L. Parsa, Parimal Misra
Summary: This study investigated the role of PIMT in pancreatic beta cells and found that under hyperglycemic and hyperlipidemic conditions, PIMT levels were reduced along with key beta cell markers. Additionally, high-fat diet led to decreased PIMT levels in pancreatic islets. Further analysis revealed that PIMT depletion resulted in the attenuation of key genes involved in insulin secretion pathway. PIMT ablation in beta cells caused a decrease in protein levels of PDX1 and MafA, resulting in reduced glucose-stimulated insulin secretion.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pathology
Andrea Ronchi, Federica Zito Marino, Giorgio Toni, Francesca Pagliuca, Daniela Russo, Giuseppe Signoriello, Elvira Moscarella, Gabriella Brancaccio, Giuseppe Argenziano, Renato Franco, Immacolata Cozzolino
Summary: This study aimed to evaluate the performance of melanocytic markers when applied to cell blocks obtained from fine needle aspiration cytology of lymph node metastases from cutaneous melanoma. Results showed that SOX10 had the best staining performance with a 100% detection rate, making it strongly recommended to be included in the minimal immunocytochemical panel for diagnostic evaluation in suspected CM metastasis patients.
JOURNAL OF CLINICAL PATHOLOGY
(2022)
Article
Biology
Caroline B. Ferreira, Talita M. Silva, Phelipe E. Silva, Claudio L. Castro, Catherine Czeisler, Jose J. Otero, Ana C. Takakura, Thiago S. Moreira
Summary: Mutations in the Phox2b gene, specifically the non-polyalanine repeat expansion mutations (NPARM) form, were found to affect respiratory control and the number of certain neurons. This study contributes to our understanding of the neuropathology of congenital central hypoventilation syndrome (CCHS) and provides new evidence for the mechanisms underlying NPARM CCHS.
Article
Multidisciplinary Sciences
Jake W. Willows, Gilian Gunsch, Emma Paradie, Magdalena Blaszkiewicz, Jeffrey R. Tonniges, Maria F. Pino, Steven R. Smith, Lauren M. Sparks, Kristy L. Townsend
Summary: Peripheral neuropathy, including axonal degeneration and demyelination, affects adipose tissues in obesity, diabetes, and aging. This study investigated the presence of demyelinating neuropathy in adipose tissue and found that adipose tissue contains myelinated and unmyelinated nerves populated by Schwann cells (SCs), which play a role in nerve regeneration. The study also showed that SCs in adipose tissue become dysregulated in diabetic peripheral neuropathy.
Review
Oncology
Jikui Guan, Bengt Hallberg, Ruth H. Palmer
Summary: Neuroblastoma, a pediatric cancer in the sympathetic nervous system, presents challenges in diagnosis and treatment, especially in high-risk cases. Genetic analysis and understanding molecular mechanisms offer potential for novel therapies and more effective treatment strategies.
Article
Neurosciences
He Wang, Mengjia Liu, Zhuoyang Ye, Cuihua Zhou, Huiru Bi, Long Wang, Chen Zhang, Hui Fu, Ying Shen, Jian-Jun Yang, Yimin Hu, Guiquan Chen
Summary: This study reveals that the phosphorylation of FoxO1 by Akt plays a critical role in Sox10 expression and OL differentiation. Deletion of all three Akt isoforms leads to downregulation of Sox10, and mutant FoxO1 inhibits Sox10 promoter activity.
JOURNAL OF NEUROSCIENCE
(2021)
Review
Dermatology
Anja Wessely, Elias A. T. Koch, Julio Vera, Carola Berking, Markus V. Heppt
Summary: Uveal melanoma, the most common eye tumor in adults, lacks effective treatment options. Researchers propose using immune checkpoint blockade and identifying novel therapeutic targets to improve treatment outcomes.
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
(2023)
Article
Cell Biology
Vladimir Abarinov, Joshua A. Levine, Angela J. Churchill, Bryce Hopwood, Cailin S. Deiter, Michelle A. Guney, Kristen L. Wells, Jessica M. Schrunk, Yuchun Guo, Jennifer Hammelman, David K. Gifford, Mark A. Magnuson, Hynek Wichterle, Lori Sussel
Summary: In this study, the researchers found that the specific domain (SD) of the NKX2.2 gene plays a crucial role in the development and function of pancreatic beta cells, but it is not important for the development of the central nervous system. This discovery reveals a novel mechanism by which NKX2.2 regulates transcriptional programs in the pancreas and neuroepithelium.
GENES & DEVELOPMENT
(2023)
Editorial Material
Clinical Neurology
Laura Lazzarini Wo, Reem Itani, Thomas G. Keens, Araz Marachelian, Jianling Ji, Iris A. Perez
Summary: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the PHOX2B gene. There have been case reports describing variable phenotypes and mutations of the PHOX2B gene, not commonly tested for, that may challenge the classic definition of CCHS. Our cases highlight the dilemmas in making a diagnosis of CCHS and emphasize the need for expanded genetic testing, including for PHOX2B gene deletion.
JOURNAL OF CLINICAL SLEEP MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Emery T. Usher, Scott A. Showalter
Summary: PDX1 is a central regulator of insulin transcription in pancreatic beta cells, and its function is regulated by cellular cues. However, the molecular mechanisms of PDX1 in glucose response remain elusive. This review summarizes existing studies on PDX1 and provides a comprehensive resource for future research on transcriptional control.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Endocrinology & Metabolism
Selina Wrublewsky, Thimoteus Speer, Lisa Nalbach, Anne S. Boewe, Mandy Pack, Dalia Alansary, Leticia P. Roma, Markus D. A. Hoffmann, Beate M. Schmitt, Andrea Weinzierl, Michael D. Menger, Matthias W. Laschke, Emmanuel Ampofo
Summary: The inhibition of NLRP3 improves the survival and endocrine function of pancreatic islet grafts by enhancing revascularization and inducing insulin gene expression. This inhibition has significant therapeutic potential in pancreatic islet transplantation.