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  1. No Access

    Article

    Defective cerebellar ryanodine receptor type 1 and endoplasmic reticulum calcium ‘leak’ in tremor pathophysiology

    Essential Tremor (ET) is a prevalent neurological disease characterized by an 8–10 Hz action tremor. Molecular mechanisms of ET remain poorly understood. Clinical data suggest the importance of the cerebellum ...

    Regina T. Martuscello, Meng-Ling Chen, Steven Reiken… in Acta Neuropathologica (2023)

  2. No Access

    Article

    Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

    RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations can destabilize RyR1 leading to calcium l...

    Alexander Kushnir, Joshua J. Todd, Jessica W. Witherspoon, Qi Yuan… in Acta Neuropathologica (2020)

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    Article

    Post-translational remodeling of ryanodine receptor induces calcium leak leading to Alzheimer’s disease-like pathologies and cognitive deficits

    The mechanisms underlying ryanodine receptor (RyR) dysfunction associated with Alzheimer disease (AD) are still not well understood. Here, we show that neuronal RyR2 channels undergo post-translational remodel...

    Alain Lacampagne, ** Liu, Steven Reiken, Renaud Bussiere… in Acta Neuropathologica (2017)