1,180 results found
    1. Cell Biology

    Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases

    King Faisal Yambire et al.
    Transcription factors KLF2 and ETV1 repress the transcriptional program of mitochondrial biogenesis, resulting in impaired mitochondrial function in lysosomal storage diseases.
    1. Neuroscience

    Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants

    Ting Zhang et al.
    A potential medication has been found for the brain and muscle degenerative diseases caused by mutant forms of Valosin-Containing Protein.
    1. Cell Biology

    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

    Virginia Guarani et al.
    Building on previous work (Guarani et al., 2015), MICOS (mitochondrial contact site) assembly and cristae junction formation are shown to have a critical role in human health.
    1. Cell Biology

    Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study

    Christi T Salisbury-Ruf et al.
    An integrative approach, combining genetic mouse and large-scale human genetics studies, was used to reveal a novel role for the Bcl-2 protein Bid in maintenance of mitochondrial function that alters susceptibility to myocardial infarction.
    1. Neuroscience

    Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome

    Irene Bolea et al.
    Glutamatergic brainstem neurons drive motor and respiratory deficits, and GABAergic basal ganglia neurons cause hypothermia and fatal epileptic events, in a model of mitochondrial disease.
    1. Cell Biology
    2. Neuroscience

    MUL1 acts in parallel to the PINK1/parkin pathway in regulating mitofusin and compensates for loss of PINK1/parkin

    Jina Yun et al.
    By reducing mitochondrial fusion, MUL1 compensates for the mutations in PINK1 or parkin that underlie certain cases of Parkinson's disease.
    1. Cell Biology
    2. Neuroscience

    Presenilin mutations deregulate mitochondrial Ca2+ homeostasis and metabolic activity causing neurodegeneration in Caenorhabditis elegans

    Shaarika Sarasija et al.
    In C. elegans, presenilin functions, independent of its gamma-secretase proteolytic activity, to regulate mitochondrial metabolism by controlling ER-mitochondrial calcium transfer and, even in the absence of Abeta signaling, loss of this activity leads to neurodegeneration.
    1. Neuroscience

    Live calcium and mitochondrial imaging in the enteric nervous system of Parkinson patients and controls

    An-Sofie Desmet et al.
    In contrast to previous post-mortem or fixed tissue histochemical reports, live calcium and mitochondrial imaging data suggest that the enteric nervous system is not generally affected in Parkinson's disease patients.
    1. Neuroscience

    Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration

    Xinde Zheng et al.
    Rapamycin treatment inhibits mTOR activity and preserves ATP levels in neurons derived from induced pluripotent stem cells from a maternally inherited Leigh syndrome patient.
    1. Computational and Systems Biology

    Mitochondrial dysfunction remodels one-carbon metabolism in human cells

    Xiaoyan Robert Bao et al.
    Mitochondrial respiratory chain dysfunction inhibits mitochondrial one-carbon metabolism, impairing cellular nucleotide biosynthesis.

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