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Article

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.

Human molecular genetics - 15 Dec 2017

Valdez Clarissa, Wong Yvette C, Schwake Michael, Bu Guojun, Wszolek Zbigniew K, Krainc Dimitri

Abstract excerpt

Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders characterized by cognitive and behavioral impairments. Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN expression and lead to the neurodegenerative lysosomal storage disorder neuronal ceroid lipofuscinosis (NCL)....

Topics

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Cathepsin D
Cell Line, Transformed
Frontotemporal Dementia
Haploinsufficiency
Intercellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neuronal Ceroid-Lipofuscinoses

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Identifiers

PMID: 29036611
DOI: 10.1093/hmg/ddx364
PMCID: PMC5886207

Genes

NCL
CTSD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.PMID 29036611Read ↗

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