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Table of Contents

November 2024 | Volume 7, No. 11

Research Articles

  • Prenatal risk assessment of Xp21.1 duplication involving the <em>DMD</em> gene by optical genome mapping
    Open Access
    Prenatal risk assessment of Xp21.1 duplication involving the DMD gene by optical genome mapping

    Yuanyuan Zhang, Qiang Du, Haiming Gao, Yujie Pan, Ningyang Liu, Chuang Qiu, Xiaoliang Liu

    Yuanyuan Zhang ... Xiaoliang Liu

    Published 8 August 2024

    It classifies the Xp21.1 duplications involving 5′-terminal DMD in prenatal case series as likely benign using OGM, which emphasizes the importance of structural evaluation on SVs involving DMD and other large dose-sensitive genes.

  • JAK inhibition with tofacitinib rapidly increases contractile force in human skeletal muscle
    Open Access
    JAK inhibition with tofacitinib rapidly increases contractile force in human skeletal muscle

    Joseph B Shrager, Ryan Randle, Myung Lee, Syed Saadan Ahmed, Winston Trope, Natalie Lui, George Poultsides, Doug Liou, Brendan Visser, Jeffrey A Norton, Shannon M Nesbit, Hao He, Ntemena Kapula, Bailey Wallen, Emmanuel Fatodu, Cheyenne A Sadeghi, Harrison B Konsker, Irmina Elliott, Brandon Guenthart, Leah Backhus, Roger Cooke, Mark Berry, Huibin Tang

    Joseph B Shrager ... Huibin Tang

    Published 9 August 2024

    Inhibition of JAK activity with tofacitinib rapidly increases human skeletal muscle fiber force by up-regulating smooth muscle myosin light chain kinase, offering a new treatment for muscle weakness.

  • Neutrophil-avid nanocarrier uptake by STAT3 dominant-negative hyper-IgE syndrome patient neutrophils
    Open Access
    Neutrophil-avid nanocarrier uptake by STAT3 dominant-negative hyper-IgE syndrome patient neutrophils

    Kathryn M Rubey, Alexandra Freeman, Alexander R Mukhitov, Andrew J Paris, Susan M Lin, Ryan Rue, Hossein Fazelinia, Lynn A Spruce, Jennifer Roof, Jacob S Brenner, Jennifer Heimall, Vera P Krymskaya

    Kathryn M Rubey ... Vera P Krymskaya

    Published 12 August 2024

    Recurrent infections are a hallmark of STAT3 DN hyper-IgE syndrome, a rare immunodeficiency syndrome, and our study suggests that neutrophil-avid nanocarriers have potential for directed delivery of cargo therapeutics to improve neutrophil infection clearance in these patients.

  • Morphological correlates of synaptic protein turnover in the mouse brain
    Open Access
    Morphological correlates of synaptic protein turnover in the mouse brain

    Fengxia Li, Julius N Bahr, Felicitas A-L Bierth, Sofiia Reshetniak, Christian Tetzlaff, Eugenio F Fornasiero, Carolin Wichmann, Silvio O Rizzoli

    Fengxia Li ... Silvio O Rizzoli

    Published 12 August 2024

    Synapse size, vesicle numbers, or the presence of a nascent zone, are indicators for the metabolic age of the synapse, in both young adult and old mice.

  • Examining the liver–pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration
    Open Access
    Examining the liver–pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration

    Christos Karampelias, Bianca Băloiu, Birgit Rathkolb, Patricia da Silva-Buttkus, Etty Bachar-Wikström, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Lianhe Chu, Martin Hrabě de Angelis, Olov Andersson

    Christos Karampelias ... Olov Andersson

    Published 19 August 2024

    Investigation of the inter-organ, pancreas–liver, crosstalk reveals a potential role of the molybdenum biosynthetic pathway in β-cell regeneration.

  • Helminth protein enhances wound healing by inhibiting fibrosis and promoting tissue regeneration
    Open Access
    Helminth protein enhances wound healing by inhibiting fibrosis and promoting tissue regeneration

    Katherine E Lothstein, Fei Chen, Pankaj Mishra, Danielle J Smyth, Wenhui Wu, Alexander Lemenze, Yosuke Kumamoto, Rick M Maizels, William C Gause

    Katherine E Lothstein ... William C Gause

    Published 23 August 2024

    A helminth-derived protein leads to rapid wound closure, skin regeneration, and reprogramming of macrophage activation through TGF-βR binding.

  • mTORC1 hampers Hedgehog signaling in <em>Tsc2</em> deficient cells
    Open Access
    mTORC1 hampers Hedgehog signaling in Tsc2 deficient cells

    Lasse Jonsgaard Larsen, Elsebet Østergaard, Lisbeth Birk Møller

    Lasse Jonsgaard Larsen ... Lisbeth Birk Møller

    Published 26 August 2024

    This is the first demonstration that mTORC1 inhibits Hedgehog signaling. mTORC1 prevents cilia accumulation of Smo and activation of GlI2. Also, evidence is provided for a 2-step activation process of GLI2.

  • Reprogramming of breast tumor–associated macrophages with modulation of arginine metabolism
    Open Access
    Reprogramming of breast tumor–associated macrophages with modulation of arginine metabolism

    Veani Fernando, Xunzhen Zheng, Vandana Sharma, Osama Sweef, Eun-Seok Choi, Saori Furuta

    Veani Fernando ... Saori Furuta

    Published 27 August 2024

    A shift of arginine metabolism from polyamine synthesis to nitric oxide synthesis induces reprogramming of macrophages from pro-tumor M2 to anti-tumor M1 types.

  • <em>Helicobacter pylori</em> induces the expression of Lgr5 and stem cell properties in gastric target cells
    Open Access
    Helicobacter pylori induces the expression of Lgr5 and stem cell properties in gastric target cells

    Zuzana Nascakova, Jiazhuo He, Giovanni Papa, Biel Francas, Flora Azizi, Anne Müller

    Zuzana Nascakova ... Anne Müller

    Published 27 August 2024

    Helicobacter pylori infection induces Lgr5 expression and stem cell properties in its target cells in a type IV secretion system/NF-kB-dependent manner. This effect on stemness is exacerbated by constitutive Wnt pathway activation and persists after antibiotic eradication.

  • Cryo-EM reveals a phosphorylated R-domain envelops the NBD1 catalytic domain in an ABC transporter
    Open Access
    Cryo-EM reveals a phosphorylated R-domain envelops the NBD1 catalytic domain in an ABC transporter

    Rodolpho Souza Amado de Carvalho, Md Shamiul Islam Rasel, Nitesh K Khandelwal, Thomas M Tomasiak

    Rodolpho Souza Amado de Carvalho ... Thomas M Tomasiak

    Published 29 August 2024

    Cryo-EM reveals that the R-domain of an ABCC transporter encircles the ATP catalytic domain-1 in a tetra-phosphorylated manner and regulates the ATPase activity along with cellular transport.

  • A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function
    Open Access
    A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function

    Denny Yang, Austin Lai, Amelie Davies, Anne FJ Janssen, Matthew O Ellis, Delphine Larrieu

    Denny Yang ... Delphine Larrieu

    Published 29 August 2024

    Identification of a new function for CSA protein in the regulation of the nuclear envelope, preventing nuclear ruptures and activation of inflammation pathways.

  • Mitochondrial double-stranded RNA homeostasis depends on cell-cycle progression
    Open Access
    Mitochondrial double-stranded RNA homeostasis depends on cell-cycle progression

    Vanessa Xavier, Silvia Martinelli, Ryan Corbyn, Rachel Pennie, Kai Rakovic, Ian R Powley, Leah Officer-Jones, Vincenzo Ruscica, Alison Galloway, Leo M Carlin, Victoria H Cowling, John Le Quesne, Jean-Claude Martinou, Thomas MacVicar

    Vanessa Xavier ... Thomas MacVicar

    Published 29 August 2024

    The accumulation of mitochondrial double-stranded RNA (mt-dsRNA) in cancer cells depends on cell proliferation status. Mt-dsRNA is more abundant in patient lung adenocarcinoma compared with healthy tissue.

  • Differential modulation of polycomb-associated histone marks by cBAF, pBAF, and gBAF complexes
    Open Access
    Differential modulation of polycomb-associated histone marks by cBAF, pBAF, and gBAF complexes

    Mary Bergwell, JinYoung Park, Jacob G Kirkland

    Mary Bergwell ... Jacob G Kirkland

    Published 29 August 2024

    This study shows that the canonical BAF (cBAF) complex uniquely opposes polycomb-associated repressive marks at the Nkx2-9 gene in mouse embryonic stem cells, leading to transcriptional activation, a function not shared by gBAF or pBAF complexes.

  • Regulation of proteostasis by sleep through autophagy in <em>Drosophila</em> models of Alzheimer’s disease
    Open Access
    Regulation of proteostasis by sleep through autophagy in Drosophila models of Alzheimer’s disease

    Natalie Ortiz-Vega, Amanda G Lobato, Tijana Canic, Yi Zhu, Stanislav Lazopulo, Sheyum Syed, R Grace Zhai

    Natalie Ortiz-Vega ... R Grace Zhai

    Published 5 September 2024

    Sleep modulation alters Tau-induced neurodegeneration in Drosophila models of tauopathy.

  • Mast cell extracellular trap formation underlies vascular and neural injury and hyperalgesia in sickle cell disease
    Open Access
    Mast cell extracellular trap formation underlies vascular and neural injury and hyperalgesia in sickle cell disease

    Donovan A Argueta, Huy Tran, Yugal Goel, Aithanh Nguyen, Julia Nguyen, Stacy B Kiven, Chunsheng Chen, Fuad Abdulla, Gregory M Vercellotti, John D Belcher, Kalpna Gupta

    Donovan A Argueta ... Kalpna Gupta

    Published 6 September 2024

    Mast cell extracellular traps catalyzed by peptidylarginine deiminase 4 contribute to vascular stasis and nerve injury, which may contribute to acute and chronic pain in sickle cell disease.

  • Non-redundant roles for the human mRNA decapping cofactor paralogs DCP1a and DCP1b
    Open Access
    Non-redundant roles for the human mRNA decapping cofactor paralogs DCP1a and DCP1b

    Ivana Vukovic, Samantha M Barnada, Jonathan W Ruffin, Jon Karlin, Ravi Kumar Lokareddy, Gino Cingolani, Steven B McMahon

    Ivana Vukovic ... Steven B McMahon

    Published 10 September 2024

    The study represents the first functional dissection of the two human cofactors present in the RNA decapping complex, and, significantly, it evaluates their role in the transcript buffering system.

  • Structural roles of Ump1 and β-subunit propeptides in proteasome biogenesis
    Open Access
    Structural roles of Ump1 and β-subunit propeptides in proteasome biogenesis

    Eric Mark, Paula C Ramos, Fleur Kayser, Jörg Höckendorff, R Jürgen Dohmen, Petra Wendler

    Eric Mark ... Petra Wendler

    Published 11 September 2024

    A 2.1 Å cryo-EM structure of a late proteasome precursor reveals roles of the assembly chaperone Ump1 and β-subunit propeptides in proteasome biogenesis.

  • Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival
    Open Access
    Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival

    Taro Chaya, Yamato Maeda, Ryotaro Tsutsumi, Makoto Ando, Yujie Ma, Naoko Kajimura, Teruyuki Tanaka, Takahisa Furukawa

    Taro Chaya ... Takahisa Furukawa

    Published 18 September 2024

    This study shows that the ciliopathy kinases Mak and Ick cooperatively act as ciliary tip-localized IFT regulators that are phosphorylated and activated by Ccrk in retinal photoreceptor cells.

Methods

  • Identification of single-cell blasts in pediatric acute myeloid leukemia using an autoencoder
    Open Access
    Identification of single-cell blasts in pediatric acute myeloid leukemia using an autoencoder

    Alice Driessen, Susanne Unger, An-phi Nguyen, Rhonda E Ries, Soheil Meshinchi, Stefanie Kreutmair, Chiara Alberti, Pavel Sumazin, Richard Aplenc, Michele S Redell, Burkhard Becher, María Rodríguez Martínez

    Alice Driessen ... María Rodríguez Martínez

    Published 27 August 2024

    The authors present a novel automated approach for the identification of blasts and their developmental stage in a longitudinal pediatric acute myeloid leukemia (AML) cohort. KMT2A-rearranged AMLs show unstable immunophenotype, with most patients presenting a more differentiated phenotype at relapse.

  • Cell-Int: a cell–cell interaction assay to identify native membrane protein interactions
    Open Access
    Cell-Int: a cell–cell interaction assay to identify native membrane protein interactions

    Thibaud Aymoz-Bressot, Marie Canis, Florian Meurisse, Anne Wijkhuisen, Benoit Favier, Guillaume Mousseau, Anne Dupressoir, Thierry Heidmann, Agathe Bacquin

    Thibaud Aymoz-Bressot ... Agathe Bacquin

    Published 5 September 2024

    A cell interaction assay to study membrane protein interactions in quasi-physiological settings, with multiple applications, from deciphering interaction networks to assessing therapeutic molecules.

  • Novel imaging tools to study mitochondrial morphology in <em>Caenorhabditis elegans</em>
    Open Access
    Novel imaging tools to study mitochondrial morphology in Caenorhabditis elegans

    Miriam Valera-Alberni, Pallas Yao, Silvia Romero-Sanz, Anne Lanjuin, William B Mair

    Miriam Valera-Alberni ... William B Mair

    Published 11 September 2024

    This study presents novel genetic tools for live imaging of mitochondrial morphology in the nematode Caenorhabditis elegans, offering insights into mitochondrial dynamics and providing a thorough comparison with existing methods.

Retractions

  • Open Access
    Retraction: Chitinase 1 regulates pulmonary fibrosis by modulating TGF-β/SMAD7 pathway via TGFBRAP1 and FOXO3

    Chang-Min Lee, Chuan-Hua He, Jin Wook Park, Jae Hyun Lee, Suchitra Kamle, Bing Ma, Bedia Akosman, Roberto Cortez, Emily Chen, Yang Zhou, Erica L Herzog, Changwan Ryu, Xueyan Peng, Ivan O Rosas, Sergio Poli, Carol Feghali Bostwick, Augustine M Choi, Jack A Elias, Chun Geun Lee

    Chang-Min Lee ... Chun Geun Lee

    Published 29 August 2024

    Chitinase 1 (CHIT1) plays a role in the pathogenesis of pulmonary fibrosis by modulating canonical and noncanonical TGF-β signaling via interaction with TGFBRAP1 and FOXO3. These findings highlight the CHIT1/SMAD7 axis as a potential biomarker and therapeutic target of pulmonary fibrosis.

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Volume 7, No. 11
November 2024
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