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Article

GRN-/- iPSC-derived cortical neurons recapitulate the pathological findings of both frontotemporal lobar degeneration and neuronal ceroidolipofuscinosis.

Neurobiology of disease - 1 Dec 2022

Bossolasco Patrizia, Cimini Sara, Maderna Emanuela, Bardelli Donatella, Canafoglia Laura, Cavallaro Tiziana, Ricci Martina, Silani Vincenzo, Marucci Gianluca, Rossi Giacomina

Abstract excerpt

Heterozygous mutations in the gene coding for progranulin (GRN) cause frontotemporal lobar degeneration (FTLD) while homozygous mutations are linked to neuronal ceroidolipofuscinosis (NCL). While both FTLD/NCL pathological hallmarks were mostly investigated in heterozygous GRN+/- brain tissue or induced pluripotent stem cell (iPSC)-derived neurons, data from homozygous GRN-/- condition are scarce, being limited...

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PMID: 36220610
DOI: 10.1016/j.nbd.2022.105891

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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