179 related articles for article (PubMed ID: 27155573)
1. Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.
Schuchman EH
Biochim Biophys Acta; 2016 Sep; 1862(9):1459-71. PubMed ID: 27155573
[TBL] [Abstract][Full Text] [Related]
2. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.
Gan JJ; Garcia V; Tian J; Tagliati M; Parisi JE; Chung JM; Lewis R; Baloh R; Levade T; Pierson TM
Neuromuscul Disord; 2015 Dec; 25(12):959-63. PubMed ID: 26526000
[TBL] [Abstract][Full Text] [Related]
3. Spinal muscular atrophy associated with progressive myoclonus epilepsy.
Topaloglu H; Melki J
Epileptic Disord; 2016 Sep; 18(S2):128-134. PubMed ID: 27647482
[TBL] [Abstract][Full Text] [Related]
4. The molecular medicine of acid ceramidase.
Frohbergh M; He X; Schuchman EH
Biol Chem; 2015 Jun; 396(6-7):759-65. PubMed ID: 25938220
[TBL] [Abstract][Full Text] [Related]
5. Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS; Amintas S; Levade T; Medin JA
Orphanet J Rare Dis; 2018 Jul; 13(1):121. PubMed ID: 30029679
[TBL] [Abstract][Full Text] [Related]
6. Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Kyriakou K; Lederer CW; Kleanthous M; Drousiotou A; Malekkou A
Int J Mol Sci; 2020 Feb; 21(5):. PubMed ID: 32111095
[TBL] [Abstract][Full Text] [Related]
7. In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease.
Ramsubir S; Nonaka T; Girbés CB; Carpentier S; Levade T; Medin JA
Mol Genet Metab; 2008 Nov; 95(3):133-41. PubMed ID: 18805722
[TBL] [Abstract][Full Text] [Related]
8. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH; Solyom A; Martin K; Harmatz P; Mitchell J; Lampe C; Grant C; Selim L; Mungan NO; Guelbert N; Magnusson B; Sundberg E; Puri R; Kapoor S; Arslan N; DiRocco M; Zaki M; Ozen S; Mahmoud IG; Ehlert K; Hahn A; Gokcay G; Torcoletti M; Ferreira CR
Hum Mutat; 2020 Sep; 41(9):1469-1487. PubMed ID: 32449975
[TBL] [Abstract][Full Text] [Related]
9. Structural basis for the activation of acid ceramidase.
Gebai A; Gorelik A; Li Z; Illes K; Nagar B
Nat Commun; 2018 Apr; 9(1):1621. PubMed ID: 29692406
[TBL] [Abstract][Full Text] [Related]
10. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
Kleynerman A; Rybova J; Faber ML; McKillop WM; Levade T; Medin JA
Biomolecules; 2023 Feb; 13(2):. PubMed ID: 36830643
[TBL] [Abstract][Full Text] [Related]
11. Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.
Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H
Pediatrics; 2016 Oct; 138(4):. PubMed ID: 27650050
[TBL] [Abstract][Full Text] [Related]
12. Systemic ceramide accumulation leads to severe and varied pathological consequences.
Alayoubi AM; Wang JC; Au BC; Carpentier S; Garcia V; Dworski S; El-Ghamrasni S; Kirouac KN; Exertier MJ; Xiong ZJ; Privé GG; Simonaro CM; Casas J; Fabrias G; Schuchman EH; Turner PV; Hakem R; Levade T; Medin JA
EMBO Mol Med; 2013 Jun; 5(6):827-42. PubMed ID: 23681708
[TBL] [Abstract][Full Text] [Related]
13. ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud IG; Elmonem MA; Zaki MS; Ramadan A; Al-Menabawy NM; El-Gamal A; Mansour L; Issa MY; Abdel-Hamid MS; Abdel-Hady S; Khalifa I; Ibrahim A; Solyom A; Rolfs A; Selim L
Clin Genet; 2020 Dec; 98(6):598-605. PubMed ID: 32875576
[TBL] [Abstract][Full Text] [Related]
14. Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Nagree MS; Rybova J; Kleynerman A; Ahrenhoerster CJ; Saville JT; Xu T; Bachochin M; McKillop WM; Lawlor MW; Pshezhetsky AV; Isaeva O; Budde MD; Fuller M; Medin JA
Commun Biol; 2023 May; 6(1):560. PubMed ID: 37231125
[TBL] [Abstract][Full Text] [Related]
15. rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis.
Zhang H; Nagree MS; Liu H; Pan X; Medin JA; Lipinski DM
Gene Ther; 2023 Apr; 30(3-4):297-308. PubMed ID: 35902747
[TBL] [Abstract][Full Text] [Related]
16. Pathological manifestations of Farber disease in a new mouse model.
Beckmann N; Kadow S; Schumacher F; Göthert JR; Kesper S; Draeger A; Schulz-Schaeffer WJ; Wang J; Becker JU; Kramer M; Kühn C; Kleuser B; Becker KA; Gulbins E; Carpinteiro A
Biol Chem; 2018 Sep; 399(10):1183-1202. PubMed ID: 29908121
[TBL] [Abstract][Full Text] [Related]
17. Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase.
He X; Schuchman EH
Biomolecules; 2023 Nov; 13(11):. PubMed ID: 38002305
[TBL] [Abstract][Full Text] [Related]
18. Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.
Beckmann N; Becker KA; Kadow S; Schumacher F; Kramer M; Kühn C; Schulz-Schaeffer WJ; Edwards MJ; Kleuser B; Gulbins E; Carpinteiro A
Int J Mol Sci; 2019 Dec; 20(24):. PubMed ID: 31835809
[TBL] [Abstract][Full Text] [Related]
19. Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Lee BH; Mongiovi P; Levade T; Marston B; Mountain J; Ciafaloni E
Am J Med Genet A; 2020 Oct; 182(10):2369-2371. PubMed ID: 32627310
[TBL] [Abstract][Full Text] [Related]
20. Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.
Alves MQ; Le Trionnaire E; Ribeiro I; Carpentier S; Harzer K; Levade T; Ribeiro MG
Mol Genet Metab; 2013 Jul; 109(3):276-81. PubMed ID: 23707712
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]