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Article

Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.

American journal of physiology. Lung cellular and molecular physiology - 1 Mar 2018

Yu Fabian P S, Islam Diana, Sikora Jakub, Dworski Shaalee, Gurka Jiří, López-Vásquez Lucía, Liu Mingyao, Kuebler Wolfgang M, Levade Thierry, Zhang Haibo, Medin Jeffrey A

Abstract excerpt

Farber disease (FD) is a debilitating lysosomal storage disorder (LSD) caused by a deficiency of acid ceramidase (ACDase) activity due to mutations in the gene ASAH1. Patients with ACDase deficiency may develop a spectrum of clinical phenotypes. Severe cases of FD are frequently associated with neurological involvement, failure to thrive, and respiratory complications. Mice homozygous ( Asah1P361R/P361R) for an...

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Identifiers

PMID: 29167126
DOI: 10.1152/ajplung.00223.2017
PMCID: PMC5900354

Genes

ASAH1

Provenance

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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