Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1 by Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín, Anne Koy, Alberto Fernández-Jaén, Hasan Tekgül, Esra Serdaroğlu, Juan Darío Ortigoza-Escobar, Rainer Schreiber, Karl Kunzelmann

“…Abstract Background Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. …”
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Altering the mechanical properties of self-assembled filaments through engineering of EspA bacterial protein by Moran Elias-Mordechai, May Morhaim, Maya Georgia Pelah, Irina Rostovsky, May Nogaoker, Jürgen Jopp, Raz Zarivach, Neta Sal-Man, Ronen Berkovich

“…These differences underscore the potential to modulate EspA filament properties through protein sequence mutations. Our findings suggest EspA as a fundamental element for developing a new biomaterial with a hierarchical structure, enabling the fabrication of macroscopic substances from self-assembled EspA-modulated filaments.…”
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Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency by Maximiliano Presa, Rachel M. Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J. Gray, Cathleen Lutz

“…Abstract Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. …”
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Targeted dual biologic therapy for erythroderma of unknown etiology guided by high-parameter peripheral blood immunophenotyping by Hannah L. Cornman, Martin P. Alphonse, Arbor Dykema, Alexander L. Kollhoff, Kevin K. Lee, Jaya Manjunath, Emily Z Ma, Varsha Parthasarathy, Junwen Deng, Thomas Pritchard, Anusha Kambala, Melika Marani, Kayla A. Parr, Javid P. Mohammed, Madan M. Kwatra, Jay H. Bream, Won Jin Ho, Shawn G. Kwatra

“…Whole-genome sequencing of PBMCs and immunofluorescence staining of skin biopsies revealed increased expression of Th2- (IL-13, IL-4Rα) and Th17-associated markers (IL-17, IL-17Rα) and non-functional mutations associated with Th2 and Th17 signaling, demonstrating that PBMCs can reflect cutaneous disease pathology. …”
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p53-loss induced prostatic epithelial cell plasticity and invasion is driven by a crosstalk with the tumor microenvironment by Darya Yanushko, Beatriz German Falcon, Rana El Bizri, Despoina Pervizou, Robin Dolgos, Céline Keime, Tao Ye, Christelle Thibault-Carpentier, Clementine Le Magnen, Sandrine Henri, Gilles Laverny, Daniel Metzger

“…The tumor suppressor genes PTEN and TP53 are frequently mutated in prostate cancer and are predictive of early metastatic dissemination and unfavorable patient outcomes. …”
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Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN by Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa

“…PKAN is caused by biallelic PANK2 mutations, a gene that encodes pantothenate kinase 2, a regulatory enzyme in coenzyme A biosynthesis. …”
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RECQL4 requires PARP1 for recruitment to DNA damage, and PARG dePARylation facilitates its associated role in end joining by Mansoor Hussain, Prabhat Khadka, Komal Pekhale, Tomasz Kulikowicz, Samuel Gray, Alfred May, Deborah L. Croteau, Vilhelm A. Bohr

“…Abstract RecQ helicases, highly conserved proteins with pivotal roles in DNA replication, DNA repair and homologous recombination, are crucial for maintaining genomic integrity. Mutations in RECQL4 have been associated with various human diseases, including Rothmund–Thomson syndrome. …”
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Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction by Anna Maria Papini, Francesca Nuti, Feliciana Real-Fernandez, Giada Rossi, Caterina Tiberi, Giuseppina Sabatino, Shashank Pandey, Silvia Leoncini, Cinzia Signorini, Alessandra Pecorelli, Roberto Guerranti, Solange Lavielle, Lucia Ciccoli, Paolo Rovero, Claudio De Felice, Joussef Hayek

“…Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). …”
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RSK4 promotes the metastasis of clear cell renal cell carcinoma by activating RUNX1-mediated angiogenesis by Jing Ma, Yanru Yang, Kaijing Wang, Jin Liu, Junyi Feng, Gongcheng Wang, Shuangping Guo, Linni Fan

“…Additionally, we evaluated the regulatory effect of RUNX1 on EPHA2 transcription using a luciferase reporter gene assay and observed that the effect of RUNX1 on activating EPHA2 transcription was negated after the binding site was mutated. Our findings suggested that RSK4 enhanced tube formation by stimulating VEGF secretion. …”
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The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis by Patryk Graczyk, Paulina Klaudia Kwaśniewska, Anna Wilewska, Kinga Borowiec, Agnieszka Borowiec, Julia Biernikiewicz, Konstanty Alabrudziński, Milena Biernikiewicz, Bartosz Pomirski, Agata Pomirska

“…Introduction: Wilson disease (WD) is a genetic disorder of copper metabolism caused by ATP7B gene mutations, impairing copper excretion and leading to copper accumulation in organs. …”
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The Roles of PI3K/AKT/mTOR and MAPK/ERK Signaling Pathways in Human Pheochromocytomas by Juan Du, Anli Tong, Fen Wang, Yunying Cui, Chunyan Li, Yushi Zhang, Zhaoli Yan

“…LY294002 (10 μM), U0126 (10 μM), AZD8055 (1 μM), and sunitinib (1 μM) inhibited PPGL cell proliferation in ten primary cultures of tissues, including four from patients with gene mutations. MEK1/2 inhibitor decreased mTOR phosphorylation. …”
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Diversity and antimicrobial resistance profiles of Mycobacterium avium complex clinical isolates in Thailand based on whole genome comparative analysis by Vorthon Sawaswong, Kanphai Wongjarit, Suthidee Petsong, Yonita Yuliani, Ubonwan Somsukpiroh, Kiatichai Faksri, Taya Forde, Sunchai Payungporn, Suwatchareeporn Rotcheewaphan

“…Most MAC isolates were resistant to linezolid and moxifloxacin based on phenotypic antimicrobial susceptibility testing. Mutations within rrl gene associated with clarithromycin resistance were detected in M. intracellulare and M. colombiense. …”
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Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction by Natsuko Inagaki, Yasuyoshi Takei, Tsuguhisa Hatano, Yasuyuki Takada, Yoshinao Yazaki, Hisanori Kosuge, Masatake Kobayashi, Shinji Suzuki, Tomohiro Umezu, Masahiko Kuroda, Kazuhiro Satomi, Takeharu Hayashi

“…Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in GLA, which encodes α-galactosidase A (GLA). …”
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High-throughput tracking enables systematic phenotyping and drug repurposing in C. elegans disease models by Thomas J O'Brien, Ida L Barlow, Luigi Feriani, André EX Brown

“…The observed phenotypes were diverse, but mutations of genes predicted to have related functions led to similar behavioural differences in worms. …”
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Exploiting venom toxins in paratransgenesis to prevent mosquito-borne disease by Stephanie French, Rachael Da Silva, Janet Storm, Christida E. Wastika, India Cullen, Martijn ten Have, Grant L. Hughes, Cassandra M. Modahl

“…However, the only toxins to be explored in mosquito paratransgenesis to date are scorpine and mutated phospholipase A2. To enhance the scope, effectiveness and durability of paratransgenesis, an expanded arsenal of effectors is required. …”
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PhpCNF-Y transcription factor infiltrates heterochromatin to generate cryptic intron-containing transcripts crucial for small RNA production by Manjit Kumar Srivastav, H. Diego Folco, Patroula Nathanailidou, Anupa T Anil, Drisya Vijayakumari, Shweta Jain, Jothy Dhakshnamoorthy, Maura O’Neill, Thorkell Andresson, David Wheeler, Shiv I. S. Grewal

“…PhpCNF-Y collaborates with a Zn-finger containing TF to bind repeat promoter regions with CCAAT boxes. Mutating either the TFs or the CCAAT binding site disrupts the transcription of heterochromatic repeats. …”
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Research Progress on the Structure and Function, Immune Escape Mechanism, Antiviral Drug Development Methods, and Clinical Use of SARS-CoV-2 M^pro by Jiayi Ren, Zhengfu Zhang, Yi Xia, Daqun Zhao, Dingqin Li, Shujun Zhang

“…Since the end of 2020, various mutations and variations in SARS-CoV-2 strains, along with the immune escape phenomenon, have emerged. …”
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Instationary metabolic flux analysis reveals that NPC1 inhibition increases glycolysis and decreases mitochondrial metabolism in brain microvascular endothelial cells by Bilal Moiz, Matthew Walls, Viviana Alpizar Vargas, Anirudh Addepalli, Callie Weber, Andrew Li, Ganesh Sriram, Alisa Morss Clyne

“…Niemann Pick Disease Type C (NP-C), a rare neurogenetic disease with no known cure, is caused by mutations in the cholesterol trafficking protein NPC1. …”
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Development of a prognostic gene signature and exploration of P4HA1 in the modulation of cuproptosis in colorectal cancer by RenJie Jiang, LinLin Ruan, Taohui Ding, Hongtao Wan, Yanglin Chen, XiaoJian Zhu, Zhijiang Huang, Dengke Yao, Ming Li, Bo Yi, Dan Liu

“…This model effectively stratified patients into high- and low-risk groups, which exhibited significant differences in disease stage, immune landscape, tumor mutational burden, and therapeutic response, underscoring the robustness of the model. …”
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Primary sinonasal ameloblastoma: A case illustration and systematic review of literature by Sampurna Raha, Rajiv S. Desai, Pankaj M. Shirsat, Shivani P. Bansal, Pooja Prasad, Ankush P. Jain, Poorvashree P. Bobade

“…Also, the need for more studies on IHC and advanced molecular techniques for BRAFv600e and SMO mutational status was proposed for better understanding of the lesion.…”
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