Browse our Research Advances

Page 3 of 41
    1. Genetics and Genomics

    Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

    Bryn D Webb, Sara M Nowinski ... Sander M Houten
    Biallelic variants in MCAT are associated with combined oxidative phosphorylation deficiency in humans and a clinical presentation that includes hypotonia, developmental delay, failure to thrive, and nystagmus.
    1. Ecology
    2. Evolutionary Biology

    Community diversity is associated with intra-species genetic diversity and gene loss in the human gut microbiome

    Naïma Madi, Daisy Chen ... Nandita R Garud
    Longstanding eco-evolutionary theories are tested using shotgun metagenomic data from the human gut microbiome, showing links between community diversity and the evolutionary trajectory of a focal species within the community.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    Snf1/AMPK fine-tunes TORC1 signaling in response to glucose starvation

    Marco Caligaris, Raffaele Nicastro ... Claudio De Virgilio
    Discovery of new Snf1/AMPK targets in the TORC1 pathway highlights the complex, multilayered crosstalk between major signaling pathways in the regulation of nutrient deprivation sensing.
    1. Computational and Systems Biology
    2. Evolutionary Biology

    Evolved bacterial resistance to the chemotherapy gemcitabine modulates its efficacy in co-cultured cancer cells

    Serkan Sayin, Brittany Rosener ... Amir Mitchell
    Mutations conferring resistance to Escherichia coli against the chemotherapy drug gemcitabine can have opposite effects on bacterial drug degradation and therefore can increase or decrease the chemotherapy load on neighboring cancer cells.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy

    Hidehiko Okuma, Jeffrey M Hord ... Kevin P Campbell
    N-terminal domain of dystroglycan enables like-acetylglucosaminyl transferase to elongate matriglycan on α-dystroglycan and prevent skeletal muscle pathophysiology.
    1. Cell Biology
    2. Structural Biology and Molecular Biophysics

    Structures of human dynein in complex with the lissencephaly 1 protein, LIS1

    Janice M Reimer, Morgan E DeSantis ... Andres E Leschziner
    Structures of human cytoplasmic dynein-1 bound to its regulator LIS1 reveal the interfaces involved in forming the complex and provide a context for disease-linked mutations.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    A hierarchy of cell death pathways confers layered resistance to shigellosis in mice

    Justin L Roncaioli, Janet Peace Babirye ... Russell E Vance
    Genetic analyses using a new oral infection mouse model demonstrate that cell death pathways protect against the gastrointestinal bacterial pathogen Shigella flexneri.
    1. Developmental Biology
    2. Genetics and Genomics

    Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality

    Ankit Sabharwal, Mark D Wishman ... Stephen C Ekker
    A revertible Leigh Syndrome French Canadian Type (LSFC) disease model recapitulates the clinical phenotypes which can be rescued using a liver-specific genetic model therapy.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    The conserved centrosomin motif, γTuNA, forms a dimer that directly activates microtubule nucleation by the γ-tubulin ring complex (γTuRC)

    Michael J Rale, Brianna Romer ... Sabine Petry
    An evolutionarily conserved protein sequence present in diverse species like yeast, frogs, chickens, and humans binds a well-known template for microtubule nucleation, the gamma-tubulin ring complex, activating and enhancing its ability to nucleate microtubules, even under low tubulin concentrations.
    1. Cancer Biology
    2. Evolutionary Biology

    Parallel evolution of reduced cancer risk and tumor suppressor duplications in Xenarthra

    Juan Manuel Vazquez, Maria T Pena ... Vincent J Lynch
    Sloths, armadillos, and anteaters evolved genetic and cellular traits that make them remarkably cancer resistant.