Diseases articles within Nature Communications

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  • Article
    | Open Access

    The mechanism underlying neuroinflammation in X-linked adrenoleukodystrophy (ALD) is poorly understood. Here authors identify aberrant production of 25-hydroxycholesterol (25-HC) in ALD patient-derived cells, and show that 25-HC mediates neuroinflammation via activating the NLRP3 inflammasome.

    • Jiho Jang
    • , Sangjun Park
    •  & Dong-Wook Kim

  • Article
    | Open Access

    Airway hyperreactivity is driven by type 2 cytokines produced by ILC2 and Th2 cells. Here the authors show that an α7-nicotinic receptor agonist (GTS-21) inhibits ILC2 responses and is therapeutic against Alternaria-induced airway hyperreactivity in a humanized mouse model.

    • Lauriane Galle-Treger
    • , Yuzo Suzuki
    •  & Omid Akbari

  • Article
    | Open Access

    Neuropathic pain hypersensitivity is known to undergo diurnal variations, although the underlying mechanisms are not clear. Using a sciatic nerve-injury mouse model, the authors find such diurnal changes are mediated by glucocorticoid induced enhancement of ATP release from astrocytes via pannexin-1 hemichannels.

    • Satoru Koyanagi
    • , Naoki Kusunose
    •  & Shigehiro Ohdo

  • Article
    | Open Access

    Bmal1 is a key transcription factor that controls rhythmicity of diverse biological functions. Here, Pan et al. show that Bmal1 deficiency in mice increases lipoprotein secretion and reduces cholesterol excretion to bile, and decipher the molecular mechanisms underlying hyperlipidaemia and atherosclerosis promoted by the lack of Bmal1.

    • Xiaoyue Pan
    • , Christopher A. Bradfield
    •  & M. Mahmood Hussain

  • Article
    | Open Access

    Heart responds to increased workload by enlarging cardiomyocytes to preserve function, but in pathologies hypertrophy leads to heart failure. Here the authors show that ANGPTL2 activity in the heart is critical for determining beneficial vs. pathological hypertrophy via its effect on AKT-SERCA2a signaling and myocardial energy.

    • Zhe Tian
    • , Keishi Miyata
    •  & Yuichi Oike

  • Article
    | Open Access

    Molecular fragments are useful tools in drug-discovery but they might be hard to identify due to their weak affinity to the targets. Here, the authors use a protein-templated assembly to design high affinity inhibitors of Coxsackie virus 3C protease, a pharmacological target against enteroviral infections.

    • Daniel Becker
    • , Zuzanna Kaczmarska
    •  & Jörg Rademann

  • Article
    | Open Access

    Immune system participates in the development of high blood pressure. Here the authors show that cholinergic-sympathetic pathway mediated by the α7nAChR receptor and the activation of splenic T cells prime immunity during hypertension and that selective splenic denervation protects against the onset of hypertension in mice.

    • Daniela Carnevale
    • , Marialuisa Perrotta
    •  & Giuseppe Lembo

  • Article
    | Open Access

    The ribosome of bacteria and other unicellular pathogens is a common target for antibiotic drugs. Here the authors determine a structure of the human ribosome bound to the translation inhibitor cycloheximide, and provide evidence that targeting the ribosome is a promising avenue for cancer therapy.

    • Alexander G. Myasnikov
    • , S. Kundhavai Natchiar
    •  & Bruno P. Klaholz

  • Article
    | Open Access

    Targeting of the CD36 scavenger receptor by the malaria parasite effector PfEMP1 prevents splenic clearance of infected erythrocytes. Here, the authors propose that diverse PfEMP1 achieve this by binding to a conserved phenylalanine residue in CD36 that is also required for lipoprotein binding.

    • Fu-Lien Hsieh
    • , Louise Turner
    •  & Matthew K. Higgins

  • Article
    | Open Access

    The nucleotide sequence of the eight genomic RNA segments of influenza A virus provides essential packaging signals, but how these sequences are recognized is unknown. Here, Moreira et al. identify conserved amino acids in the viral nucleoprotein that regulate packaging of RNA segments.

    • Étori Aguiar Moreira
    • , Anna Weber
    •  & Mindaugas Juozapaitis

  • Article
    | Open Access

    A major goal of vaccine design is to protect against a broad range of pathogen strains. Here the authors isolate a new broadly neutralizing antibody against influenza haemagglutinin from human memory B cells, and identify mutations that increase and broaden the neutralization towards H5 HA subtype.

    • Ying Fu
    • , Zhen Zhang
    •  & Wayne A. Marasco

  • Article
    | Open Access

    Treatment of HIV-1 infected patients with latency-reversing agents (LRA) induces transcription of proviruses in CD4 T cells. Using single-genome sequencing, the authors show that the LRA-induced CD4 T cell-associated HIV RNA is genetically diverse and contains a high proportion of defective RNA.

    • Kirston Barton
    • , Bonnie Hiener
    •  & Sarah Palmer

  • Article
    | Open Access

    Hereditary tyrosinaemia type I is caused by a gene defect that leads to a lethal accumulation of toxic metabolites in the liver. Here the authors use CRISPR/Cas9 to 'cure' the disease in mice by inactivating another gene, rather than targeting the disease-causing gene itself, to reroute hepatic tyrosine catabolism.

    • Francis P. Pankowicz
    • , Mercedes Barzi
    •  & Karl-Dimiter Bissig

  • Article
    | Open Access

    Diabetes is associated with the de-differentiation of β-cells into a more progenitor-like cell type. Here, the authors identify Aldh3 as a marker of de-differentiating β-cell in animal models of diabetes, and show Aldh3+cells have impaired insulin secretion and mitochondrial dysfunction.

    • Ja Young Kim-Muller
    • , Jason Fan
    •  & Domenico Accili

  • Article
    | Open Access

    The E3 ligase RNF168 is essential for the signalling of DNA double strand break and its mutations are associated with the RIDDLE syndrome. Here the authors identify TOP2a as substrate for RNF168 and USP10; providing a link between the RNF168/USP10 axis, TOP2a and the response to anti-cancer drugs that target TOP2.

    • Kiran Kumar Naidu Guturi
    • , Miyuki Bohgaki
    •  & Razqallah Hakem

  • Article
    | Open Access

    Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute to specific mutations revealed by whole-genome sequencing.

    • Paul K. Potter
    • , Michael R. Bowl
    •  & Steve D. M. Brown

  • Article
    | Open Access

    The socioeconomic burden of amyotrophic lateral sclerosis (ALS) is high, but the projected number of cases in the upcoming years is unclear. Here, the authors estimate the number and distribution of ALS cases to 2040, and show that cases are projected to increase, particularly in developing nations.

    • Karissa C. Arthur
    • , Andrea Calvo
    •  & Bryan J. Traynor

  • Article
    | Open Access

    NSAID-induced analgesia is typically induced by inhibition of COX enzymes. Here the authors show instead that fenamate NSAIDs inhibit the Nlrp3 inflammasome via an effect on volume-regulated anion channel function and also repurpose these drugs for therapeutic effect in rodent models of Alzheimer disease.

    • Michael J. D. Daniels
    • , Jack Rivers-Auty
    •  & David Brough

  • Article
    | Open Access

    Accumulation of intermediates of haem biosynthesis, porphyrins, is harmful and usually inherited, but it is unclear how the same mutation may make some individuals more ill than others. Here, the authors show that a porphyrin transporter ABCB6 is a modulator of porphyria, and that patients with functionally defective ABCB6 show more severe symptoms.

    • Yu Fukuda
    • , Pak Leng Cheong
    •  & John D. Schuetz

  • Article
    | Open Access

    Angiopoietin-like 4 protein (ANGPTL4) is a regulator of lipoprotein metabolism whose role in atherosclerosis has been controversial. Here the authors show that ANGPTL4 deficiency in haematopoietic cells increases atherogenesis by promoting myeloid progenitor cell expansion and differentiation, foam cell formation and vascular inflammation.

    • Binod Aryal
    • , Noemi Rotllan
    •  & Carlos Fernández-Hernando

  • Article
    | Open Access

    Endometriosis is a common gynaecological disease but the underlying pathogenesis is poorly understood, however there is a strong familial component. Here the authors conduct a genome wide association study and identify a novel susceptibility locus that correlates with disease severity.

    • Valgerdur Steinthorsdottir
    • , Gudmar Thorleifsson
    •  & Kari Stefansson

  • Article
    | Open Access

    Alcohol abuse is a risk factor for acute respiratory distress syndrome, flooding of the lungs due to compromised barrier function. Here the authors report that alcohol upregulates claudin-5 that is then recruited to tight junctions in alveolar epithelial cells, causing the displacement of claudin-18 from ZO-1 and diminished barrier function.

    • Barbara Schlingmann
    • , Christian E. Overgaard
    •  & Michael Koval

  • Article
    | Open Access

    Fungi of the order Mucorales can cause life-threatening infections. Here, Chibucos et al. present genomic and transcriptomic analyses of a diverse set of Mucorales fungi, shedding light on their evolution and identifying potential therapeutic targets in the pathogens and the host.

    • Marcus C. Chibucos
    • , Sameh Soliman
    •  & Vincent M. Bruno

  • Article
    | Open Access

    Human parechovirus 3 (HPeV3) can cause severe central nervous system infections and is a major cause of neonatal sepsis. Here the authors determine the structure of HPeV3 that provides a high-resolution view of the capsid’s organization and shows multiple interactions of the RNA genome with coat proteins.

    • Shabih Shakeel
    • , Brenda M. Westerhuis
    •  & Sarah J. Butcher

  • Article
    | Open Access

    Breast cancer is separated into multiple subtypes based on the expression of HER2 and hormone receptors. Here, the authors report the whole genome sequence of 64 HER2 positive tumours and show that these can be further separated into four groups with different gene expression profiles and genomic features.

    • Anthony Ferrari
    • , Anne Vincent-Salomon
    •  & Gilles Thomas

  • Article
    | Open Access

    Despite initial benefits in treating HER2-positive breast cancer patients with lapatinib, resistance is prevalent. Here the authors show that lapatinib resistance can be ascribed to mTOR-mediated re-activation of ERRα and to the consequent induction of a metabolic adaptation.

    • Geneviève Deblois
    • , Harvey W. Smith
    •  & Vincent Giguère

  • Article
    | Open Access

    Evidence of how functional Bregs develop in vivo has been lacking. Here the authors show that proB cells exposed in vivoto CpG differentiate into distinct Breg subsets that inhibit autoimmunity by arresting T cells in the lymph nodes via CCL19 and by producing IL-10 at the site of immunopathology.

    • Sarantis Korniotis
    • , Christophe Gras
    •  & Flora Zavala

  • Article
    | Open Access

    Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis and subsequent defects in collagen crosslinking and osteoblast function.

    • Uschi Lindert
    • , Wayne A. Cabral
    •  & Vorasuk Shotelersuk

  • Article
    | Open Access

    Some individuals present with multiple synchronous colorectal tumours, but the genetic understanding of this is unclear. Here, the authors use a sequencing strategy to show that the synchronous tumours are genetically independent and the patients harbour rare germline damaging mutations in genes associated with the immune system.

    • Matteo Cereda
    • , Gennaro Gambardella
    •  & Francesca D. Ciccarelli

  • Article
    | Open Access

    Hypoxia has diverse effects on aquatic life. Wang et al.show that reproductive defects resulting from hypoxia are epigenetically heritable in Japanese rice fish, and that this intergenerational inheritance is accompanied by differential methylation and gene expression in sperm.

    • Simon Yuan Wang
    • , Karen Lau
    •  & Rudolf Shiu-Sun Wu

  • Article
    | Open Access

    Genetically engineered mouse models of cancer are useful in identifying oncogenes and tumour suppressors. Here, the authors use gene expression profiles to generate a catalogue of copy number aberrations in 45 mouse models, and compare mouse and human tumours to identify additional drivers of tumorigenesis.

    • Uri Ben-David
    • , Gavin Ha
    •  & Todd R. Golub

  • Article
    | Open Access

    Dry eye disease is a complex condition with limited treatments. Here the authors show that mice lacking a multi-functional peptide PACAP develop dry eye-like signs that can be topically treated with PACAP peptide that stimulates tearing in mice, suggesting a possible therapy in humans with dry eyes.

    • Tomoya Nakamachi
    • , Hirokazu Ohtaki
    •  & Seiji Shioda

  • Article
    | Open Access

    miR125b-5p has been associated with acute liver failure. Here the authors show that this miRNA targets Keap1 and activates Nrf2 to inhibit liver cell death after APAP or FAS toxicity, plus they show that a miR125b-5p mimic can inhibit ALF in mice.

    • Dakai Yang
    • , Qinggong Yuan
    •  & Amar Deep Sharma

  • Article
    | Open Access

    Mutations in the translational activator of cytochrome c oxidase subunit I (TACO1) causes cytochrome c oxidase deficiency and Leigh Syndrome in patients. Here, the authors characterize mice with a mutation that causes lack of TACO1 expression, identifying a mouse model that could be useful for preclinical trials.

    • Tara R. Richman
    • , Henrik Spåhr
    •  & Aleksandra Filipovska

  • Article
    | Open Access

    EGFR-mutant non-small cell lung cancer is routinely treated with EGFR inhibitors, although resistance inevitably develops. Here, the authors sequence circulating tumour DNA and show that resistance to the third-generation inhibitor rociletinib is heterogeneous and recurrently involves somatic alterations of MET, EGFR, PIK3CA, ERRB2, and KRAS.

    • Jacob J. Chabon
    • , Andrew D. Simmons
    •  & Maximilian Diehn

  • Article
    | Open Access

    Clinical RNA-seq datasets can predict clinical outcomes. Here, Shen et al. report a statistical method for survival analysis of mRNA isoform variation using clinical RNA-seq datasets, and the identified isoform based survival predictors outperform gene expression based survival predictors using TCGA data on six cancer types.

    • Shihao Shen
    • , Yuanyuan Wang
    •  & Yi Xing

  • Article
    | Open Access

    Type 2 immune responses are viewed as opposites of Type 1 and 17 responses. Here the authors show that activation of Type 2 immunity by helminth infection counteracts the development of inflammatory arthritis, a type 17-mediated pathology, via IL-4/IL-13- STAT6 signalling and eosinophil activation.

    • Zhu Chen
    • , Darja Andreev
    •  & Aline Bozec

  • Article
    | Open Access

    The fusion of two genes during the pathogenesis of cancer can create oncogenes. In this study, the authors screen pediatric B-cell precursor acute lymphoblastic leukaemia samples for the presence of fusion genes and describe fusion genes that define new molecular subtypes of the disease

    • Henrik Lilljebjörn
    • , Rasmus Henningsson
    •  & Thoas Fioretos

  • Article
    | Open Access

    Systemic sclerosis (SSc) is a fibrotic disease affecting multiple organs. Here the authors use patient samples plus mouse studies to show a central role for tenascin C as a TLR4 activator responsible for persistence of fibrosis in the context of SSc and SSc-like disease.

    • Swati Bhattacharyya
    • , Wenxia Wang
    •  & John Varga

  • Article
    | Open Access

    Identifying pathways that cause pathological cardiac hypertrophy holds great therapeutic potential. Here the authors discover one such pathway and show that SIKE, an inhibitor of interferon signalling, prevents pathological but not physiological cardiac hypertrophy by interacting with TBK1 and modulating the TBK1/AKT signalling in rodents and monkeys.

    • Ke-Qiong Deng
    • , Aibing Wang
    •  & Hongliang Li

  • Article
    | Open Access

    Flexible fear-related responses may be advantageous in adolescence. Here the authors use microprisms to image prefrontal cortical spine maturation across development and report that plasticity in adolescent fear extinction responses is associated with dynamic reorganization in the amygdalahippocampal-PFC circuit.

    • Siobhan S. Pattwell
    • , Conor Liston
    •  & Francis S. Lee

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