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Article

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.

Proceedings of the National Academy of Sciences of the United States of America - 20 Nov 2001

Gupta P, Soyombo A A, Atashband A, Wisniewski K E, Shelton J M, Richardson J A, Hammer R E, Hofmann S L

Abstract excerpt

PPT1 and PPT2 encode two lysosomal thioesterases that catalyze the hydrolysis of long chain fatty acyl CoAs. In addition to this function, PPT1 (palmitoyl-protein thioesterase 1) hydrolyzes fatty acids from modified cysteine residues in proteins that are undergoing degradation in the lysosome. PPT1 deficiency in humans causes a neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis (also known as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11717424
DOI: 10.1073/pnas.251485198
PMCID: PMC61081

Genes

PPT1
PPT2

Provenance

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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