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Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes.

Human molecular genetics - 1 Mar 2017

Tanaka Yoshinori, Suzuki Genjiro, Matsuwaki Takashi, Hosokawa Masato, Serrano Geidy, Beach Thomas G, Yamanouchi Keitaro, Hasegawa Masato, Nishihara Masugi

Abstract excerpt

Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the PGRN gene causes frontotemporal lobar degeneration accompanied by TDP-43 accumulation, and patients with homozygous mutations in the PGRN gene present with neuronal ceroid lipofuscinosis. Although it remains unknown why PGRN deficiency causes neurodegenerative diseases, there is increasing evidence that PGRN is implicated in...

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PMID: 28073925
DOI: 10.1093/hmg/ddx011

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CTSD

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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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