Acid ceramidase deficiency: bridging gaps between clinical presentation, mouse models, and future therapeutic interventions

HIGHLIGHTS

• who: Annie Kleynerman et al. from the Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA have published the research work: Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions, in the Journal: Biomolecules 2023, 13, 274. of /2023/
• what: In this review the authors compare clinical reports on FD patients and experimental descriptions of ACDasedeficient mouse models. With hallmark features, including systemic Cer accumulation and the buildup of foamy macrophages in organs, this model has proven to be useful for studying pathology relevant to patients with FD.
 



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