Identification and characterization of the COPII vesicle‐forming GTPase Sar1 in Chlamydomonas by Kin Pan Chung, Daniel Frieboese, Florent Waltz, Benjamin D. Engel, Ralph Bock

“…We employed site‐directed mutagenesis to generate a dominant‐negative mutant of CrSar1 (CrSar1DN). Using protein secretion assays, we demonstrate the inhibitory effect of CrSar1DN on protein secretion. …”
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DDX1 is required for non-spliceosomal splicing of tRNAs but not of XBP1 mRNA by Teruhiko Suzuki, Satoko Takagi, Junta Funada, Yuka Egawa, Mana Yamakawa, Takahiko Hara

“…Additionally, the enforced expression of DDX1, but not of its helicase-inactive mutant, rescued the splicing defects of tRNAs in DDX1-deficient cells. …”
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Association between Single Nucleotide Polymorphisms rs3757318 and Vitamin D Deficiency in Iraqi Breast Cancer Patients by Istikrar M. Hade, Ahmed S. K. Al-Khafaji, Fadhel M. Lafta, Yasir B. Qaddoori

“…In respect to the CCDC170 gene rs3757318 SNP genotypes frequency, the mutant genotype (AA) was only identified in the investigated breast cancer patients (O.R. …”
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Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome by Silvia Gioiosa, Silvia Gasparini, Carlo Presutti, Arianna Rinaldi, Tiziana Castrignanò, Cecilia Mannironi

“…To perform a comparative analysis of publicly available RNA sequencing (RNA-seq) studies and generate novel data resources for AS, we explored 100 human datasets and 130 mouse datasets from Mecp2-mutant models, processing data for gene expression and alternative splicing. …”
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Antibody-mediated degradation of 4R-tau restores mitochondrial membrane polarization in human induced pluripotent stem cell-derived neurons with the MAPT 10+16 mutation by Dale O. Starkie, Charles Arber, Terry Baker, Daniel J. Lightwood, Selina Wray

“…These were used to probe the molecular mechanisms of excess 4 R-tau in disease-mutant induced pluripotent stem cell-derived neurons. …”
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ER Stress and Iron Homeostasis: A New Frontier for the UPR by Susana J. Oliveira, Maria de Sousa, Jorge P. Pinto

“…From a functional perspective, the ability of HFE to bind to transferrin receptors 1 and 2 is lost in the C282Y mutant, thus affecting hepcidin regulation. Also due to the faulty assembly with β2m, HFE-C282Y molecules remain in the endoplasmic reticulum (ER) as aggregates that undergo proteasomal degradation and activate an Unfolded Protein Response (UPR). …”
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Determination of mutagenicity of chemical compounds, physical factors and environmental pollutants by the Drosophila melanogaster wing somatic mutation and recombination test by L. P. Zakharenko, I. K. Zakharov

“…Recombination or mutational events in the cell leads to the formation of mutant spots/clones visible by microscopic analysis of the wing surface. …”
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Recent Advances in Antimicrobial Resistance: Insights from <i>Escherichia coli</i> as a Model Organism by Zhaoyang Zhang, Minliang Wei, Bin Jia, Yingjin Yuan

“…This review explores recent advances for investigating AMR in <i>E. coli</i>, including machine learning for resistance pattern analysis, laboratory evolution to generate resistant mutants, mutant library construction, and genome sequencing for in-depth characterization. …”
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Lawsonia intracellularis T3SS effector LI0758, an Rce1 ortholog, activates MAPK and NF-κB signaling in mammalian cells by Yuanxiu Zhong, Yiyun Duan, Fenju Lai, Jinhua Zhang, Yimin Dai

“…While displaying unique activity in the yeast a-factor reporter system, LI0758 restores Ras2 localization in Rce1Δ mutant strains, implying functional similarity. Our findings underscore LI0758’s pivotal role in activating MAPK pathways and suggest its potential to modulate the localization and function of host CAAX proteins. …”
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VDAC1: A Key Player in the Mitochondrial Landscape of Neurodegeneration by Shirel Argueti-Ostrovsky, Shir Barel, Joy Kahn, Adrian Israelson

“…This review summarizes the current findings on the contribution of VDAC1 to neurodegeneration, focusing on its interactions with disease-specific proteins, such as amyloid-β, α-synuclein, and mutant SOD1. By unraveling the complex involvement of VDAC1 in neurodegenerative processes, this review highlights potential avenues for future research and drug development aimed at alleviating mitochondrial-related neurodegeneration.…”
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The small GTPase MRAS is a broken switch by Gabriela Bernal Astrain, Regina Strakhova, Chang Hwa Jo, Emma Teszner, Ryan C. Killoran, Matthew J. Smith

“…Acquisition of NMR spectra from isotopically labeled MRAS in live cells validated the GTPase remains fully GDP-loaded, even a supposed activated mutant. These data show that RAS GTPases, including those most similar to KRAS, have disparate biochemical activities and challenge current dogma on MRAS, suggesting previous data may need reinterpretation.…”
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Contemporary Treatment Practices for Subacute Sclerosing Panencephalitis: A Nationwide Survey Among Adult and Pediatric Neurologists in India by Divyani Garg, Archita Makharia, Ayush Agarwal, Ajay Garg, Achal K Srivastava

“…Background and Objectives: Subacute sclerosing panencephalitis (SSPE) is a progressive disorder caused due to the persistence of mutant measles virus in the brain. Treatment strategies for SSPE remain largely undefined, and there exists no information on how neurologists are currently managing SSPE. …”
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Decreased Hsp90 activity protects against TDP-43 neurotoxicity in a C. elegans model of amyotrophic lateral sclerosis. by Laura Garcia-Toscano, Heather N Currey, Joshua C Hincks, Jade G Stair, Nicolas J Lehrbach, Nicole F Liachko

“…Using a C. elegans model of fALS mutant TDP-43 proteinopathy, we find that loss of function of HSP-90 protects against TDP-43 neurotoxicity and subsequent neurodegeneration in adult animals. …”
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Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus by Michael S. Gordon, Murray B. Gordon

“…PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. …”
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Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNAThr Gene by Ke Li, Lijun Wu, Jianjiang Liu, Wei Lin, Qiang Qi, Tianlan Zhao

“…These mitochondrial dysfunctions caused an increase in the production of reactive oxygen species in the mutant cell lines. These data provide a direct evidence that a novel tRNA mutation was associated with T2DM. …”
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Single-cell profiling of penta- and tetradactyl mouse limb buds identifies mesenchymal progenitors controlling digit numbers and identities by Victorio Palacio, Anna Pancho, Angela Morabito, Jonas Malkmus, Zhisong He, Geoffrey Soussi, Rolf Zeller, Barbara Treutlein, Aimée Zuniga

“…Taken together, the spatial alterations in GREM1 antagonism in mouse mutant and evolutionarily diversified pig limb buds tunes BMP activity, which impacts dLMP and pLMP populations in an opposing manner.…”
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TERTp Mutation and its Prognostic Value in Glioma Patients Under the 2021 WHO Classification: A Real‐World Study by Hao Xing, Delin Liu, Junlin Li, Yulu Ge, Xiaopeng Guo, Wenlin Chen, Dachun Zhao, Yixin Shi, Yilin Li, Yaning Wang, Yuekun Wang, Yu Xia, Jiaming Wu, Tingyu Liang, Hai Wang, Qianshu Liu, Shanmu Jin, Tian Qu, Siying Guo, Huanzhang Li, Tianrui Yang, Kun Zhang, Yu Wang, Wenbin Ma

“…Moreover, TERTp mutation tended to co‐occur with EGFR, KRAS, and MET in glioblastoma. In the IDH‐mutant subgroup, it tended to co‐occur with CIC and FUBP1 alterations, while being mutually exclusive with ATRX and TP53 alterations. …”
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Interactions of N- and C-terminal parts of Ana1 permitting centriole duplication but not elongation by Agota Nagy, Levente Kovacs, Helene Rangone, Jingyan Fu, Mark Ladinsky, David M. Glover

“…Subsequently, the centriole undergoes conversion to a centrosome requiring its radial expansion and elongation, mediated by a network requiring interactions between Cep135, Ana1/Cep295 and Asterless/Cep152. Here, we show that mutant alleles encoding overlapping N- and C-terminal parts of Ana1 are capable of intragenic complementation to rescue radial expansion. …”
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Extracellular Vesicles Derived from Human Umbilical Cord Mesenchymal Stem Cells Promote Trophoblast Cell Proliferation and Migration by Targeting TFPI2 in Preeclampsia by Ying Chen, Chenchen Zhou, Xiaobo Zhao, Ronghua Che, Yuelin Wu, Sheng Wan, Jinda Pei, Liping Yao, Xiaolin Hua

“…Relative luciferase activities were measured in TFPI2 wild-type (WT) and mutant cells. miR-195 expression was negatively correlated with TFPI2 mRNA levels in preeclampsia patients. …”
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Characteristics of lower respiratory microbiota in children’s refractory Mycoplasma pneumoniae pneumonia pre- and post-COVID-19 era by Zhimin Xi, Jinglong Chen, Libo Wang, Aizhen Lu

“…The rate of macrolide resistance MP in Y2023 was significantly higher than that in Y2019 (P&lt;0.05), and the mutant site was all 23S rRNA A2063G. There were no significant differences in α-diversity and β-diversity of LRT microbiota between Y2019 and Y2023 group. …”
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