Free Access
Issue
Med Sci (Paris)
Volume 40, Novembre 2024
Les Cahiers de Myologie
Page(s) 52 - 55
Section Prix SFM
DOI https://doi.org/10.1051/medsci/2024162
Published online 18 November 2024
  1. Koch J, Gärtner S, Li CM, et al. Molecular Cloning and Characterization of a Full-length Complementary DNA Encoding Human Acid Ceramidase: Identification of the First Molecular Lesion Causing Farber Disease. J Biol Chem 1996 ; 271 (51) : 33110–5. [CrossRef] [PubMed] [Google Scholar]
  2. Jankovic J, Rivera VM. Hereditary myoclonus and progressive distal muscular atrophy. Ann Neurol 1979 ; 6 (3) : 227–31. [CrossRef] [PubMed] [Google Scholar]
  3. Zhou J, Tawk M, Tiziano FD, et al. Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1. Am J Hum Genet 2012 ; 91 (1) : 5–14. [CrossRef] [PubMed] [Google Scholar]
  4. Yu FPS, Amintas S, Levade T, et al. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018 ; 13. [PubMed] [Google Scholar]
  5. Kleynerman A, Rybova J, Faber ML, et al. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions. Biomolecules 2023 ; 13 (2) : 274. [CrossRef] [PubMed] [Google Scholar]
  6. Gebai A, Gorelik A, Li Z, et al. Structural basis for the activation of acid ceramidase. Nat Commun 2018 ; 9 (1) : 1621. [CrossRef] [PubMed] [Google Scholar]
  7. Ferlinz K, Kopal G, Bernardo K, et al. Human Acid Ceramidase: Processing, Glycosylation, and Lysosomal Targeting. J Biol Chem 2001 ; 276 (38) : 35352–60. [CrossRef] [PubMed] [Google Scholar]
  8. Ehlert K, Frosch M, Fehse N, et al. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 2007 ; 5 : 15. [CrossRef] [PubMed] [Google Scholar]
  9. Lee BH, Mongiovi P, Levade T, et al. Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. Am J Med Genet A 2020 ; 182 (10) : 2369–71. [CrossRef] [PubMed] [Google Scholar]
  10. Puma A, Ezaru A, Cavalli M, et al. A case of ASAH1-related pure SMA evolving into adult-onset Farber disease. Clin Genet 2021 ; 100 (2) : 234–5. [CrossRef] [PubMed] [Google Scholar]
  11. Antonarakis SE, Valle D, Moser HW, et al. Phenotypic variability in siblings with Farber disease. J Pediatr 1984 ; 104 (3) : 406–9. [CrossRef] [PubMed] [Google Scholar]
  12. Alayoubi AM, Wang JCM, Au BCY, et al. Systemic ceramide accumulation leads to severe and varied pathological consequences. EMBO Mol Med 2013 ; 5 (6) : 827–42. [CrossRef] [PubMed] [Google Scholar]
  13. Sikora J, Dworski S, Jones EE, et al. Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities. Am J Pathol 2017 ; 187 (4) : 864–83. [CrossRef] [PubMed] [Google Scholar]
  14. Yu FPS, Sajdak BS, Sikora J, et al. Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. Am J Pathol 2019 ; 189 (2) : 320–38. [CrossRef] [PubMed] [Google Scholar]
  15. Beckmann N, Kadow S, Schumacher F, et al. Pathological manifestations of Farber disease in a new mouse model. Biol Chem 2018 ; 399 (10) : 1183–202. [CrossRef] [PubMed] [Google Scholar]
  16. Nagree MS, Rybova J, Kleynerman A, et al. Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency. Commun Biol 2023 ; 6 : 560. [CrossRef] [PubMed] [Google Scholar]
  17. Ehlert K, Levade T, Di Rocco M, et al. Allogeneic hematopoietic cell transplantation in Farber disease. J Inherit Metab Dis 2019 ; 42 (2), 286–294. [CrossRef] [PubMed] [Google Scholar]
  18. Guffon N, Bertrand Y, Forest I, et al. Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years. J Pediatr 2009 ; 154 (5) : 733–7. [CrossRef] [PubMed] [Google Scholar]
  19. Walia JS, Neschadim A, Lopez-Perez O, et al. Autologous Transplantation of Lentivector/Acid Ceramidase–Transduced Hematopoietic Cells in Nonhuman Primates. Hum Gene Ther 2011 ; 22 (6) : 679–87. [CrossRef] [PubMed] [Google Scholar]
  20. Boespflug-Tanguy O, Sevin C, Piguet F. Gene therapy for neurodegenerative disorders in children: dreams and realities. Archives de Pédiatrie 2023 ; 30 (8, Supplement 1) : 8S32–40. [CrossRef] [Google Scholar]
  21. Ellison S, Parker H, Bigger B. Advances in therapies for neurological lysosomal storage disorders. J Inherit Metab Dis 2023 ; 46 (5) : 874–905. [CrossRef] [PubMed] [Google Scholar]
  22. He X, Dworski S, Zhu C, et al. Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. BBA Clin 2017 ; 7 : 85–96. [CrossRef] [PubMed] [Google Scholar]
  23. Parini R, Deodato F. Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations. Int J Mol Sci 2020 ; 21 (8) : 2975. [CrossRef] [PubMed] [Google Scholar]
  24. Zhang H, Nagree MS, Liu H, et al. rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis. Gene Ther 2023 ; 30 (3) : 297–308. [CrossRef] [PubMed] [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.