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Showing 1–8 of 8 results
Advanced filters: Author: Sebastien Herzig Clear advanced filters

  • Meta-analyses in up to 1.3 million individuals identify 87 rare-variant associations with blood pressure traits. On average, rare variants exhibit effects ~8 times larger than the mean effects of common variants and implicate candidate causal genes at associated regions.

    • Praveen Surendran
    • Elena V. Feofanova
    • Joanna M. M. Howson
    Research
    Nature Genetics
    Volume: 52, P: 1314-1332

  • The authors show that sphingolipids, a class of fat molecules, accumulate in skeletal muscle during aging. They demonstrate that reducing sphingolipids improves age-related fitness in mice by enhancing the myogenic response of muscle and present genetic evidence that these findings may also translate to humans.

    • Pirkka-Pekka Laurila
    • Martin Wohlwend
    • Johan Auwerx
    Research
    Nature Aging
    Volume: 2, P: 1159-1175

  • Analysis of blood pressure data from the Million Veteran Program trans-ethnic cohort identifies common and rare variants, and genetically predicted gene expression across multiple tissues associated with systolic, diastolic and pulse pressure in over 775,000 individuals.

    • Ayush Giri
    • Jacklyn N. Hellwege
    • Todd L. Edwards
    Research
    Nature Genetics
    Volume: 51, P: 51-62

  • Calcium enters mitochondria through a dedicated channel referred to as the mitochondrial calcium uniporter (MCU), whose molecular identity has long remained elusive. Since the discovery of the gene encoding the MCU protein two years ago, researchers have awaited the generation of a mouse lacking the MCU. These mice are fully viable and show defects limited to performance of high-energy-demanding exercises. Strikingly, no protection against necrosis is observed following ischaemia-reperfusion in the heart.

    • Sébastien Herzig
    • Kinsey Maundrell
    • Jean-Claude Martinou
    News & Views
    Nature Cell Biology
    Volume: 15, P: 1398-1400

  • Loss of excitatory synapses occur prior to the formation of amyloid plaques in Alzheimer’s disease. Here the authors show in an animal model that the loss of synapses induced by amyloid-beta oligomers requires over-activation of a stress-response pathway inducing structural remodelling of mitochondria in dendrites of cortical and hippocampal neurons.

    • Annie Lee
    • Chandana Kondapalli
    • Franck Polleux
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-20

  • AMP-activated protein kinase (AMPK) senses cellular energy levels and phosphorylates a variety of cellular substrates to inhibit or stimulate anabolic and catabolic processes, adjusting metabolism to energy needs. Recent studies have uncovered a crucial role of AMPK in the regulation of mitochondrial dynamics and mitophagy, further expanding its role in the control of cellular metabolism.

    • Sébastien Herzig
    • Reuben J. Shaw
    Reviews
    Nature Reviews Molecular Cell Biology
    Volume: 19, P: 121-135