Articles with "hereditary ferritinopathy" as a keyword



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Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress

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Published in 2020 at "Neuropathology and Applied Neurobiology"

DOI: 10.1111/nan.12634

Abstract: Neuroferritinopathy (NF) or hereditary ferritinopathy (HF) is an autosomal dominant movement disorder due to mutation in the light chain of the iron storage protein ferritin (FTL). HF is the only lateā€onset neurodegeneration with brain iron… read more here.

Keywords: protein; light chain; hereditary ferritinopathy; neuropathological biochemical ... See more keywords
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Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration

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Published in 2019 at "Frontiers in Neuroscience"

DOI: 10.3389/fnins.2019.01195

Abstract: Cellular growth, function, and protection require proper iron management, and ferritin plays a crucial role as the major iron sequestration and storage protein. Ferritin is a 24 subunit spherical shell protein composed of both light… read more here.

Keywords: protein; ferritin; formation; hereditary ferritinopathy ... See more keywords