Article

Lipid Dysregulation Unveil the Intricate Interplay of Lysosomal and Mitochondrial Changes in Frontotemporal Dementia with GRN Haploinsufficiency

2024-01-22

Abstract excerpt

<h4>ABSTRACT</h4> This study investigates the cellular pathology resulting from haploinsufficiency of progranulin (PGRN) in frontotemporal dementia (FTD) associated with granulin (GRN) mutations. Utilizing fibroblasts from FTD patients carrying a distinctive GRN mutation (c.709-1G>A), we observed lysosomal and lipofuscin accumulation, impaired lysosomal function, compromised autophagic flux, and mitochondrial abn...

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Literature Corpus work: 78e62b4d-f29b-5401-81c7-3b396574f040
DOI: 10.1101/2024.01.22.576606

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