Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-021-01913-8
Abstract: Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes for a protein… read more here.
Keywords: headache; h63d variant; hfe h63d; disease ... See more keywords
Could haemochromatosis (HFE) gene mutations affect response to iron chelation in myelodysplastic syndrome? – Response to Lucijanic and Kusec
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Haematology"
DOI: 10.1111/bjh.15938
Abstract: We appreciate the comments by Lucijanic and Kusec on our article “Mutational profile and haematological response to iron chelation in myelodysplastic syndromes (MDS)” (Fabiani et al, 2019). Following their suggestions, we further investigated the mechanisms… read more here.
Keywords: response; iron chelation; h63d; hfe ... See more keywords
H63D variant of the homeostatic iron regulator (HFE) gene alters α‐synuclein expression, aggregation, and toxicity
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurochemistry"
DOI: 10.1111/jnc.15107
Abstract: Pathological features of Parkinson's disease include the formation of Lewy bodies containing α‐synuclein and the accumulation of iron in the substantia nigra. Previous studies have suggested that iron accumulation contributes to the Parkinson's disease pathology… read more here.
Keywords: aggregation; h63d hfe; h63d; pathology ... See more keywords
Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y
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DOI: 10.1371/journal.pone.0271973
Abstract: Background Screening program participants with iron overload (IO) phenotypes without HFE p.C282Y/p.C282Y are incompletely characterized. Methods We studied white participants who had IO phenotypes without p.C282Y/p.C282Y in post-screening clinical examinations (CE). We defined IO phenotypes… read more here.
Keywords: h63d; iron overload; c282y c282y; c282y ... See more keywords