Selected missense mutations impair frataxin processing in Friedreich ataxia
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DOI: 10.1002/acn3.490
Abstract: [This corrects the article DOI: 10.1002/acn3.433.]. read more here.
Keywords: selected missense; mutations impair; impair frataxin; missense mutations ... See more keywords
Spastin mutations impair coordination between lipid droplet dispersion and reticulum
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DOI: 10.1371/journal.pgen.1008665
Abstract: Lipid droplets (LD) are affected in multiple human disorders. These highly dynamic organelles are involved in many cellular roles. While their intracellular dispersion is crucial to ensure their function and other organelles-contact, underlying mechanisms are… read more here.
Keywords: reticulum; mutations impair; spastin; dispersion ... See more keywords