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Article

Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.

Advances in experimental medicine and biology - 1 Jan 2021

Zhou Xiaolai, Kukar Thomas, Rademakers Rosa

Abstract excerpt

It has been more than a decade since heterozygous loss-of-function mutations in the progranulin gene (GRN) were first identified as an important genetic cause of frontotemporal lobar degeneration (FTLD). Due to the highly diverse biological functions of the progranulin (PGRN) protein, encoded by GRN, multiple possible disease mechanisms have been proposed. Early work focused on the neurotrophic properties of PGRN...

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Identifiers

PMID: 33433878
DOI: 10.1007/978-3-030-51140-1_14
PMCID: PMC8672701

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