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  1. No Access

    Article

    Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses

    At least five enzymes including three E3 ubiquitin ligases are dedicated to glycogen’s spherical structure. Absence of any reverts glycogen to a structure resembling amylopectin of the plant kingdom. This amyl...

    Sharmistha Mitra, Baozhi Chen, John M. Shelton, Silvia Nitschke… in Acta Neuropathologica (2024)

  2. Article

    Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

    Many adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9 biotechnology holds great promise in neurological therapy, pending the clearance of major delivery, efficiency, and specifi...

    Emrah Gumusgoz, Dikran R Guisso, Sahba Kasiri, Jun Wu, Matthew Dear… in Neurotherapeutics (2021)

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    Article

    Lafora disease — from pathogenesis to treatment strategies

    Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Laf...

    Felix Nitschke, Saija J. Ahonen, Silvia Nitschke… in Nature Reviews Neurology (2018)