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More articles from Research Articles

  • Heparan sulfate proteoglycans mediate prion-like α-synuclein toxicity in Parkinson’s in vivo models
    Open Access
    Heparan sulfate proteoglycans mediate prion-like α-synuclein toxicity in Parkinson’s in vivo models

    Merry Chen, Julie Vincent, Alexis Ezeanii, Saurabh Wakade, Shobha Yerigenahally, Danielle E Mor

    Merry Chen ... Danielle E Mor

    Published 5 July 2022

    This study offers new Caenorhabditis elegans models in which feeding with α-synuclein pre-formed fibrils results in prion-like aggregation of host α-synuclein and dopamine neuron degeneration, and these disease phenotypes are regulated by the heparan sulfate proteoglycan pathway.

  • chromMAGMA: regulatory element-centric interrogation of risk variants
    Open Access
    chromMAGMA: regulatory element-centric interrogation of risk variants

    Robbin Nameki, Anamay Shetty, Eileen Dareng, Jonathan Tyrer, Xianzhi Lin, The Ovarian Cancer Association Consortium, Paul Pharoah, Rosario I Corona, Siddhartha Kar, Kate Lawrenson

    Robbin Nameki ... Kate Lawrenson

    Published 1 July 2022

    chromMAGMA, a pipeline that prioritizes candidate risk regulatory elements and target genes, reveals novel risk-associated genes when applied to epithelial ovarian cancer.

  • Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants
    Open Access
    Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants

    Laura Strohm, Zehan Hu, Yongwon Suk, Alina Rühmkorf, Erin Sternburg, Vanessa Gattringer, Henrick Riemenschneider, Riccardo Berutti, Elisabeth Graf, Jochen H Weishaupt, Monika S Brill, Angelika B Harbauer, Dorothee Dormann, Jörn Dengjel, Dieter Edbauer, Christian Behrends

    Laura Strohm ... Christian Behrends

    Published 1 July 2022

    Analysis of ALS patient-derived and engineered cells revealed that mutant UBQLN2 increases mRNA and protein of MAP1B which is mediated by dephosphorylation of FUS within its RNA-binding domain.

  • Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome
    Open Access
    Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome

    Francisco Bustos, Sunil Mathur, Carmen Espejo-Serrano, Rachel Toth, C James Hastie, Satpal Virdee, Greg M Findlay

    Francisco Bustos ... Greg M Findlay

    Published 28 June 2022

    The authors use photocrosslinking activity-based probes to monitor RNF12/RLIM E3 ubiquitin ligase activity and report the impact of Tonne-Kalscheuer syndrome (TOKAS) patient variants on catalysis.

  • Neuropeptide signalling shapes feeding and reproductive behaviours in male <em>Caenorhabditis elegans</em>
    Open Access
    Neuropeptide signalling shapes feeding and reproductive behaviours in male Caenorhabditis elegans

    Matthew J Gadenne, Iris Hardege, Eviatar Yemini, Djordji Suleski, Paris Jaggers, Isabel Beets, William R Schafer, Yee Lian Chew

    Matthew J Gadenne ... Yee Lian Chew

    Published 23 June 2022

    LURY-1 peptides are expressed in distinct cells in different sexes and have sex-specific effects on feeding and mating, providing further evidence for the role of neuromodulators in sexual dimorphism.

  • Loss of Amphiregulin drives inflammation and endothelial apoptosis in pulmonary hypertension
    Open Access
    Loss of Amphiregulin drives inflammation and endothelial apoptosis in pulmonary hypertension

    Jonathan Florentin, Jingsi Zhao, Yi-Yin Tai, Wei Sun, Lee L Ohayon, Scott P O’Neil, Anagha Arunkumar, Xinyi Zhang, Jianhui Zhu, Yassmin Al Aaraj, Annie Watson, John Sembrat, Mauricio Rojas, Stephen Y Chan, Partha Dutta

    Jonathan Florentin ... Partha Dutta

    Published 22 June 2022

    The key pathogenic features of pulmonary hypertension are endothelial apoptosis and vascular inflammation, which are caused by the down-regulation of Amphiregulin, accompanied by HIF-1a and BAD-mediated up-regulation of the target genes such as RRP1B, PHB2, and NCOA6.

  • IgM-enriched immunoglobulin improves colistin efficacy in a pneumonia model by <em>Pseudomonas aeruginosa</em>
    Open Access
    IgM-enriched immunoglobulin improves colistin efficacy in a pneumonia model by Pseudomonas aeruginosa

    Tania Cebrero-Cangueiro, Gema Labrador-Herrera, Marta Carretero-Ledesma, Soraya Herrera-Espejo, Rocío Álvarez-Marín, Jerónimo Pachón, José Miguel Cisneros, María Eugenia Pachón-Ibáñez

    Tania Cebrero-Cangueiro ... María Eugenia Pachón-Ibáñez

    Published 21 June 2022

    Using polyclonal IgM-enriched immunoglobulin (IgM-IG) as adjuvant therapy to colistin appears useful in the treatment of pneumonia caused by multidrug-resistant strains of P. aeruginosa.

  • TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy
    Open Access
    TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy

    Li Zhang, Felicia Dietsche, Bruno Seitaj, Liliana Rojas-Charry, Nadina Latchman, Dhanendra Tomar, Rob CI Wüst, Alexander Nickel, Katrin BM Frauenknecht, Benedikt Schoser, Sven Schumann, Michael J Schmeisser, Johannes vom Berg, Thorsten Buch, Stefanie Finger, Philip Wenzel, Christoph Maack, John W Elrod, Jan B Parys, Geert Bultynck, Axel Methner

    Li Zhang ... Axel Methner

    Published 17 June 2022

    TMBIM5 deficiency reduces mitochondrial K+/H+ exchange. Mutation of the channel pore in mice destabilizes the protein and results in increased embryonic lethality and a skeletal myopathy.

  • The cation exchanger Letm1, circadian rhythms, and NAD(H) levels interconnect in diurnal zebrafish
    Open Access
    The cation exchanger Letm1, circadian rhythms, and NAD(H) levels interconnect in diurnal zebrafish

    Pauline Dao, Stefan Hajny, Ronald Mekis, Lukas Orel, Nora Dinhopl, Kristin Tessmar-Raible, Karin Nowikovsky

    Pauline Dao ... Karin Nowikovsky

    Published 13 June 2022

    The mitochondrial osmoregulator Letm1 exhibits a diel regulation, impacts on NAD+/H levels, circadian genes, and its study allows new perspectives on possible genetic compensation mechanisms.

  • LncRNA <em>RUS</em> shapes the gene expression program towards neurogenesis
    Open Access
    LncRNA RUS shapes the gene expression program towards neurogenesis

    Marius F Schneider, Veronika Müller, Stephan A Müller, Stefan F Lichtenthaler, Peter B Becker, Johanna C Scheuermann

    Marius F Schneider ... Johanna C Scheuermann

    Published 10 June 2022

    The chromatin-associated lncRNA RUS binds in the vicinity to neural differentiation-associated genes and regulates them in a context-dependent manner to enable proper neuron development.

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