Article
Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).
Biochimica et biophysica acta. Molecular basis of disease - 1 Jan 2025
Wydrych Agata, Pakuła Barbara, Jakubek-Olszewska Patrycja, Janikiewicz Justyna, Dobosz Aneta M, Cudna Agnieszka, Rydzewski Marcel, Pierzynowska Karolina, Gaffke Lidia, Cyske Zuzanna, Rintz Estera, Kurkowska-Jastrzębska Iwona, Cwyl Maciej, Pinton Paolo, Węgrzyn Grzegorz, Koopman Werner J H, Dobrzyń Agnieszka, Skowrońska Marta, Lebiedzińska-Arciszewska Magdalena, Wieckowski Mariusz R
Abstract excerpt
Mutations in the following genes: PANK2, PLA2G6, C19orf12, WDR45, CP, FA2H, ATP13A2, FTL, DCAF17, and CoASY are associated with the development of different subtypes of inherited rare disease Neurodegeneration with Brain Iron Accumulation (NBIA). Additionally, recently described mutations in FTH1, AP4M1, REPS1, SCP2, CRAT and GTPBP2 affecting iron and lipid metabolism also are thought to be involved in NBIA...
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