Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by <i>ASAH1</i> gene mutations. Currently, 73 different mutations in the <i>ASAH1</i> gene h...

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Bibliographic Details
Main Authors: Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, Jeffrey A. Medin
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Biomolecules
Subjects:
ceramide
lysosomal storage disorder
SMA-PME
Farber disease
lipogranulomatosis
acid ceramidase
Online Access:https://www.mdpi.com/2218-273X/13/2/274

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https://www.mdpi.com/2218-273X/13/2/274

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