Review
Biochemistry & Molecular Biology
Kenshiro Fujise, Satoru Noguchi, Tetsuya Takeda
Summary: This review provides an overview of the functions of dynamin 2 and BIN1 in T-tubule biogenesis and discusses how their dysfunction in membrane remodelling leads to CNM pathogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Xuefeng Wei, Yunchang Zhu, Jie Du, Xiaojie Ma, Xue Zhao, Yaoyao Ma, Shuang Han, Yun Ma
Summary: The study identified SREBP1 as a potential important transcription factor regulating ANGPTL8 transcription, with its binding sites located in the core promoter region of ANGPTL8.
Article
Biochemistry & Molecular Biology
Catarina Perdigao, Mariana A. Barata, Tatiana Burrinha, Claudia Guimas Almeida
Summary: Genetic studies have identified two coding variants in the BIN1 gene associated with late-onset Alzheimer's disease risk. These variants may lead to a loss of function in endocytic recycling, impacting intracellular beta-amyloid accumulation and early endosome enlargement, potentially contributing to the pathogenesis of LOAD.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Xue-Lian Wu, Xiao-Wei Liu, Yang Wang, Meng-Yun Guo, Jian-Ren Ye
Summary: By analyzing the transcriptome data of Burkholderia pyrrocinia JK-SH007, 54 highly expressed genes were identified and their promoter sequences were screened using genome-wide data and BPROM, resulting in 18 promoter sequences. A promoter trap system based on two reporter proteins was developed and successfully used to insert eight constitutive promoters into B. pyrrocinia JK-SH007. Five of these promoters showed higher activity than the control promoter PRPL, with P14 and P19 demonstrating stable high transcription levels at all time points.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Kelsy C. Cotto, Yang-Yang Feng, Avinash Ramu, Megan Richters, Sharon L. Freshour, Zachary L. Skidmore, Huiming Xia, Joshua F. McMichael, Jason Kunisaki, Katie M. Campbell, Timothy Hung-Po Chen, Emily B. Rozycki, Douglas Adkins, Siddhartha Devarakonda, Sumithra Sankararaman, Yiing Lin, William C. Chapman, Christopher A. Maher, Vivek Arora, Gavin P. Dunn, Ravindra Uppaluri, Ramaswamy Govindan, Obi L. Griffith, Malachi Griffith
Summary: RegTools is a software package that integrates genomic data with transcriptomic data to identify somatic variants that may cause aberrant splicing. It has been applied to over 9000 tumor samples and discovered numerous splice-associated variants.
NATURE COMMUNICATIONS
(2023)
Review
Biotechnology & Applied Microbiology
Madhulika Singh, Nand Mradula, Nand Lal
Summary: Bioreporters are sensors made of live natural or genetically engineered cells that produce signals in response to a specific environment. These signals can be measured to detect and monitor target chemicals or physical agents. Bioreporters have the potential for rapid, economical, and near real-time measurement, making them promising tools for environmental pollution detection and removal.
JOURNAL OF APPLIED MICROBIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Fangyang Shao, Lei Ci, Jiahao Shi, Fei Fang, Bowen Yan, Xijun Liu, Xiangyu Yao, Mengjie Zhang, Hua Yang, Zhugang Wang, Jian Fei
Summary: In this study, we established a transgenic mouse model to monitor MCP-1 expression by observing the luciferase levels in live mice. The results showed that the luciferase signal is correlated with endogenous MCP-1 expression in mice and the anti-inflammatory drug dexamethasone can inhibit MCP-1 and luciferase gene expression significantly.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA
(2022)
Article
Biochemistry & Molecular Biology
Malgorzata Gorniak-Walas, Karolina Nizinska, Katarzyna Lukasiuk
Summary: The study identified a 592 bp rat Ttyh1 promoter sequence and found that Ascl1, Sp1, and responsive cis-regulatory elements may be involved in the transcriptional regulation of Ttyh1 expression in rat dissociated hippocampal neurons in vitro, providing novel information about Ttyh1 gene regulation in neurons.
NEUROCHEMICAL RESEARCH
(2021)
Article
Microbiology
Gloria Munoz-Fernandez, Javier-Fernando Montero-Bullon, Jose Luis Revuelta, Alberto Jimenez
Summary: Ashbya gossypii is a filamentous fungus used for industrial production of riboflavin and as a valuable biocatalyst for producing various metabolites. The study identified 10 new promoters in A. gossypii, including three strong promoters and seven medium/weak promoters, which significantly improved gene expression platforms. The functionality of the promoters was evaluated by overexpression and underexpression of the MSN2 gene, leading to significant changes in sporulation ability of the mutant strains.
Article
Biochemistry & Molecular Biology
Nuria Martinez-Gil, Neus Roca-Ayats, Monica Cozar, Natalia Garcia-Giralt, Diana Ovejero, Xavier Nogues, Daniel Grinberg, Susanna Balcells
Summary: This study assessed the functionality of two variants of SOST and investigated the physical interactors of the SOST proximal promoter region in bone cells. Results showed that these variants affected the expression of SOST and had physical contacts with far-reaching genomic sequences.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Mehdi Fazel-Najafabadi, Harikrishna-Reddy Rallabandi, Manish K. Singh, Guru P. Maiti, Jacqueline Morris, Loren L. Looger, Swapan K. Nath
Summary: This study identifies the 2p13.1 locus as a susceptibility site for SLE and provides insights into the underlying molecular mechanisms involving DGUOK gene.
Article
Obstetrics & Gynecology
Jana Emich, Avinash S. Gaikwad, Birgit Stallmeyer, Daniela Fietz, Hans-Christian Schuppe, Manon S. Oud, Sabine Kliesch, Joerg Gromoll, Corinna Friedrich, Frank Tuettelmann
Summary: This study aimed to investigate the functional impact and pathogenic relevance of DMRT1 gene variants in isolated male infertility caused by azoospermia. A novel luciferase assay was developed and validated to analyze the effect of DMRT1 missense variants on target promoters. The results demonstrated significant functional effects of certain DMRT1 variants and highlighted the importance of characterizing variants for the diagnosis of male infertility.
FERTILITY AND STERILITY
(2023)
Article
Multidisciplinary Sciences
Hiroto Sugawara, Junta Imai, Junpei Yamamoto, Tomohito Izumi, Yohei Kawana, Akira Endo, Masato Kohata, Junro Seike, Haremaru Kubo, Hiroshi Komamura, Yuichiro Munakata, Yoichiro Asai, Shinichiro Hosaka, Shojiro Sawada, Shinjiro Kodama, Kei Takahashi, Keizo Kaneko, Hideki Katagiri
Summary: The authors establish a sensitive strategy to monitor the proliferation of targeted cell types in vivo in the same individuals, providing a new technical approach for biological and medical research.
NATURE COMMUNICATIONS
(2023)
Article
Virology
Kashif Rasheed, Baldur Sveinbjornsson, Ugo Moens
Summary: The study suggests that MCPyV may act as a co-factor in HPV-induced cancers.
Article
Oncology
Rongxin Zhang, Huiling Shu, Yuqi Wang, Tiantong Tao, Jing Tu, Cheng Wang, Jean-Louis Mergny, Xiao Sun
Summary: In this study, the relationship between G-quadruplexes (G4) and somatic structural variants (SV) in cancers was investigated using bioinformatic approaches and multiomics data. It was found that G4 regions were significantly enriched with somatic SV breakpoints, particularly at the boundary of topologically associated domains. G4 regions were also associated with earlier replication timing and open chromatin status. Machine learning models suggested G4 propensity as an important feature for predicting the density of SV breakpoints. These findings highlight the critical role of G4 structures in modulating the production of somatic SVs in cancers.
Article
Clinical Neurology
Julius Dengler, Daniel Ruefenacht, Bernhard Meyer, Veit Rohde, Matthias Endres, Pavlina Lenga, Konstantin Uttinger, Viktoria Ruecker, Maria Wostrack, Adisa Kursumovic, Bujung Hong, Dorothee Mielke, Nils Ole Schmidt, Jan-Karl Burkhardt, Philippe Bijlenga, Edoardo Boccardi, Christophe Cognard, Peter U. Heuschmann, Peter Vajkoczy
Summary: Limited clinical evidence exists on giant intracranial aneurysms (GIAs), with a focus on their natural history, case fatality, and treatment outcomes for both ruptured and unruptured cases. Both ruptured and unruptured GIAs displayed poor prognosis, with high rupture rates in the unruptured cases. Patients undergoing surgical or endovascular treatment had lower case fatality and rupture rates compared to those receiving conservative management, likely due to differences in patient selection criteria.
JOURNAL OF NEUROSURGERY
(2021)
Article
Clinical Neurology
Daniel Delev, Julia Taube, Christoph Helmstaedter, Karlijn Hakvoort, Alexander Grote, Hans Clusmann, Marec von Lehe
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2020)
Article
Multidisciplinary Sciences
Tunc Faik Ersoy, Sami Ridwan, Alexander Grote, Roland Coras, Matthias Simon
SCIENTIFIC REPORTS
(2020)
Letter
Clinical Neurology
Sami Ridwan, Alexander Grote, Matthias Simon
WORLD NEUROSURGERY
(2020)
Article
Multidisciplinary Sciences
Sami Ridwan, Alexander Grote, Matthias Simon
Summary: The study observed that peak levels of IL-6 in the cerebrospinal fluid (CSF) of patients with severe aneurysmal subarachnoid hemorrhage (SAH) occurred between days 4 and 14 after SAH, with significant correlations to delayed cerebral ischemia (DCI) and infarctions. Elevated CSF IL-6 levels may serve as a potential biomarker for DCI with infarction, but individual variations limit its diagnostic utility in SAH patients.
SCIENTIFIC REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Matthias Simon, Alexander Grote
Summary: IL-6 is a proinflammatory cytokine that may serve as a potential biomarker in SAH patients, although discrepancies in research findings and lack of defined clinical endpoints hinder its routine clinical use. Further research is needed to better understand the role of IL-6 and neuroinflammation in the pathophysiology of SAH.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Tunc Faik Ersoy, Neda Mokhtari, Daniel Brainman, Bjoern Berger, Attila Salay, Philipp Schuett, Florian Weissinger, Alexander Grote, Matthias Simon
Summary: Cerebellar metastases patients have varying prognoses and individualized decision-making is crucial. Chemotherapy has a positive impact on survival, while extracerebral metastases do not significantly influence overall survival.
Article
Surgery
Sami Ridwan, Mario Ganau, Cesare Zoia, Marike Broekman, Alexander Grote, Hans Clusmann
Summary: This study investigated the impact of COVID-19 on international neurosurgeons, revealing a significant decrease in surgical activity due to the pandemic. While most neurosurgeons expressed concerns about personal and family health, private practitioners faced uncertain financial outlooks during the ongoing crisis.
FRONTIERS IN SURGERY
(2021)
Article
Oncology
Nancy Ann Oberheim-Bush, Wenyin Shi, Michael W. McDermott, Alexander Grote, Julia Stindl, Leonardo Lustgarten
Summary: This study evaluated the safety of TTFields therapy in patients with GBM and a VP shunt. Results showed that TTFields therapy was well tolerated and had a favorable safety profile in this population. There was no evidence of disruption to VP shunt effectiveness with TTFields therapy.
JOURNAL OF NEURO-ONCOLOGY
(2022)
Article
Clinical Neurology
Eric Goulin Lippi Fernandes, Sami Ridwan, Isabell Greeve, Wolf-Ruediger Schaebitz, Alexander Grote, Matthias Simon
Summary: This study analyzed the clinical and imaging data of 49 patients who underwent posterior fossa decompression surgery for cerebellar infarction. The results showed that rapid recovery of consciousness after surgery does not necessarily lead to good functional outcomes. While many patients died during follow-up, long-term functional impairment was rare. Surgical intervention should focus primarily on pressure relief, and the removal of infarcted tissue may have limited impact on outcomes. Patients with a Glasgow Coma Scale (GCS) of 14-15 may be able to postpone surgery.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Alexander Grote, Dieter-Henrik Heiland, Julia Taube, Christoph Helmstaedter, Vidhya M. Ravi, Paulina Will, Elke Hattingen, Jan-Ruediger Schuere, Juri-Alexander Witt, Annika Reimers, Christian Elger, Johannes Schramm, Albert J. Becker, Daniel Delev
Summary: This study identifies a distinct mesial-temporal lobe epilepsy syndrome called "innate inflammatory gliosis only" characterized by chronic inflammation associated with astrocytes. Patients with this syndrome have poor seizure and neuropsychological outcomes after surgery compared to patients with hippocampus sclerosis. The findings suggest that this syndrome requires innovative pharmacotreatment strategies.
Article
Biochemistry & Molecular Biology
Juergen Serth, Inga Peters, Olga Katzendorn, Tu N. Dang, Joana Moog, Zarife Balli, Christel Reese, Joerg Hennenlotter, Alexander Grote, Marcel Lafos, Hossein Tezval, Markus A. Kuczyk
Summary: Recent studies have shown that DNA methylation of the NKX6-2 gene can be used to predict the risk of metastatic disease in RCC patients, with NKX6-2 found to be hypermethylated in primary metastatic RCC. Analysis of methylation data from different tissue samples reveals similarities between metastatic tissues and primary metastatic RCC tissues.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Julia Taube, Juri-Alexander Witt, Alexander Grote, Daniel Delev, Jonas Enkirch, Elke Hattingen, Albert J. Becker, Christian Erich Elger, Christoph Helmstaedter
Summary: This study compared the pre- and postoperative memory performance of patients with gliosis only (GO) and hippocampal sclerosis (HS). The results showed that GO patients had a later onset of epilepsy, less severe and non-specific memory impairments before surgery, less successful surgical outcome, and a more significant memory decline after surgery compared to HS patients. These findings provide further evidence that GO and HS are distinct clinical entities.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Cell Biology
Gabor Zsurka, Maximilian L. T. Appel, Maximilian Nastaly, Kerstin Hallmann, Niels Hansen, Daniel Nass, Tobias Baumgartner, Rainer Surges, Gunther Hartmann, Eva Bartok, Wolfram S. Kunz
Summary: This study reports on a family with three affected individuals exhibiting symptoms resembling a neurodevelopmental disorder. Whole-exome sequencing identified a homozygous stop-gain mutation in the BATF2 gene, which is predominantly expressed in macrophages and monocytes and plays a role in modulating pro-inflammatory responses. Transcriptome analysis showed altered expression of interferon-stimulated genes and elevated responses to innate immune stimuli in the patients' blood. These findings suggest that BATF2 may be a novel disease-associated gene candidate for severe epilepsy and mental retardation related to dysregulation of immune responses, highlighting the importance of neuroinflammation in epilepsy.
Meeting Abstract
Oncology
Nancy Ann Oberheim-Bush, Wenyin Shi, Michael McDermott, Alexander Grote, Julia Stindl, Leonardo Lustgarten
Article
Neurosciences
Nihal A. Salem, Lawrence Manzano, Michael W. Keist, Olga Ponomareva, Amanda J. Roberts, Marisa Roberto, R. Dayne Mayfield
Summary: This study identified cell-type specific gene expression changes associated with alcohol dependence in the medial prefrontal cortex of mice. The results revealed dysregulated gene co-expression networks and differentially expressed genes in multiple cell types, highlighting the involvement of inhibitory neurons and astrocytes in alcohol dependence. Novel targets for studying molecular mechanisms contributing to alcohol dependence were also identified.
NEUROBIOLOGY OF DISEASE
(2024)
Article
Neurosciences
Laura E. Hawley, Megan Stringer, Abigail J. Deal, Andrew Folz, Charles R. Goodlett, Randall J. Roper
Summary: This study found that the overexpression of DYRK1A protein in Down syndrome mice varies with age, sex, and brain region, and reducing the copy number of Dyrk1a can decrease the expression of DYRK1A. These sex-specific patterns of DYRK1A overexpression may provide mechanistic targets for therapeutic intervention in Down syndrome.
NEUROBIOLOGY OF DISEASE
(2024)