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Article

TFEB regulates lysosomal proteostasis.

Human molecular genetics - 15 May 2013

Song Wensi, Wang Fan, Savini Marzia, Ake Ashley, di Ronza Alberto, Sardiello Marco, Segatori Laura

Abstract excerpt

Loss-of-function diseases are often caused by destabilizing mutations that lead to protein misfolding and degradation. Modulating the innate protein homeostasis (proteostasis) capacity may lead to rescue of native folding of the mutated variants, thereby ameliorating the disease phenotype. In lysosomal storage disorders (LSDs), a number of highly prevalent alleles have missense mutations that do not impair the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23393155
DOI: 10.1093/hmg/ddt052

Genes

TFEB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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