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Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations

Abstract Heterozygous mutations in the GRN gene and hexanucleotide repeat expansions in C9orf72 are the two most common genetic causes of Frontotemporal Dementia (FTD) with TDP-43 protein inclusions. The triggers for neurodegeneration in FTD with GRN (FTD-GRN) or C9orf72 (FTD-C9orf72) gene abnormali...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Oana C. Marian, Jonathan D. Teo, Jun Yup Lee, Huitong Song, John B. Kwok, Ramon Landin-Romero, Glenda Halliday, Anthony S. Don
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2023-03-01
Schriftenreihe:Acta Neuropathologica Communications
Schlagworte:
FTD
Progranulin
Lipidomics
Lysosome
Cholesterol
TDP-43
Online-Zugang:https://doi.org/10.1186/s40478-023-01544-7
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