Article
Autophagy-related proteomics reveals lysosomal alterations linked to C19orf12 mutations and candidate biomarkers in MPAN patients' fibroblasts.
Neurobiology of disease - 1 Feb 2026
Pakula Barbara, Wydrych Agata, Lebiedzinska-Arciszewska Magdalena, Jakubek-Olszewska Patrycja, Skowrońska Marta, Kurkowska-Jastrzębska Iwona, Janikiewicz Justyna, Dobosz Aneta M, Hakli Emre, Szymański Jędrzej, Pinton Paolo, Dobrzyń Agnieszka, Koopman Werner J H, Wieckowski Mariusz R
Abstract excerpt
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) is the third most common genetically-defined subtype of Neurodegeneration with Brain Iron Accumulation (NBIA), a group of rare, clinically heterogeneous disorders. The MPAN pathomechanism, including the link between C19orf12 mutations, iron accumulation, and metabolic alterations, is still poorly understood. While earlier research pointed to...
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