{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["20"],"submitter":["Lee JAK"],"pubmed_abstract":["<h4>Introduction</h4>ALS is a neurodegenerative disorder characterized by progressive upper and lower motor neuron loss. A GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene is the most common mutation found in populations of European descent. Mitochondrial dysfunction has been observed in C9orf72-ALS patients and models of the disease, however, reports on mitochondrial clearance via mitophagy in C9orf72-ALS are limited.<h4>Results</h4>iNeurons from C9orf72-ALS patients displayed reduced mitochondrial membrane potential and reduced basal mitophagy, due to reductions in autophagosome production and reduced ULK1 recruitment to mitochondria. No consistent changes to PINK1/Parkin or BNIP3 mitophagy pathways were observed.<h4>Conclusion</h4>Our data show that certain aspects of mi"],"journal":["Frontiers in cellular neuroscience"],"pagination":["1731669"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12933941"],"repository":["biostudies-literature"],"pubmed_title":["C9orf72-ALS mutation drives basal mitophagy impairments in iNeurons."],"pmcid":["PMC12933941"],"pubmed_authors":["Moutin C","Lee JAK","Ferraiuolo L","Granger S","Shaw A","Shaw PJ","Mortiboys H","Allen SP","Roome K"],"additional_accession":[]},"is_claimable":false,"name":"C9orf72-ALS mutation drives basal mitophagy impairments in iNeurons.","description":"<h4>Introduction</h4>ALS is a neurodegenerative disorder characterized by progressive upper and lower motor neuron loss. A GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene is the most common mutation found in populations of European descent. Mitochondrial dysfunction has been observed in C9orf72-ALS patients and models of the disease, however, reports on mitochondrial clearance via mitophagy in C9orf72-ALS are limited.<h4>Results</h4>iNeurons from C9orf72-ALS patients displayed reduced mitochondrial membrane potential and reduced basal mitophagy, due to reductions in autophagosome production and reduced ULK1 recruitment to mitochondria. No consistent changes to PINK1/Parkin or BNIP3 mitophagy pathways were observed.<h4>Conclusion</h4>Our data show that certain aspects of mi","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026","modification":"2026-07-14T09:21:58.764Z","creation":"2026-07-14T03:04:12.62Z"},"accession":"S-EPMC12933941","cross_references":{"pubmed":["41757350"],"doi":["10.3389/fncel.2026.1731669"]}}