233 related articles for article (PubMed ID: 23681708)
1. 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]
2. Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.
Yu FPS; Sajdak BS; Sikora J; Salmon AE; Nagree MS; Gurka J; Kassem IS; Lipinski DM; Carroll J; Medin JA
Am J Pathol; 2019 Feb; 189(2):320-338. PubMed ID: 30472209
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency.
Yu FPS; Molino S; Sikora J; Rasmussen S; Rybova J; Tate E; Geurts AM; Turner PV; Mckillop WM; Medin JA
Lab Invest; 2019 Oct; 99(10):1572-1592. PubMed ID: 31186526
[TBL] [Abstract][Full Text] [Related]
5. Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.
Yu FPS; Islam D; Sikora J; Dworski S; Gurka J; López-Vásquez L; Liu M; Kuebler WM; Levade T; Zhang H; Medin JA
Am J Physiol Lung Cell Mol Physiol; 2018 Mar; 314(3):L406-L420. PubMed ID: 29167126
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease.
Bedia C; Camacho L; Abad JL; Fabriàs G; Levade T
J Lipid Res; 2010 Dec; 51(12):3542-7. PubMed ID: 20871013
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency.
Yu FPS; Dworski S; Medin JA
Sci Rep; 2018 Jan; 8(1):1808. PubMed ID: 29379059
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
Sikora J; Dworski S; Jones EE; Kamani MA; Micsenyi MC; Sawada T; Le Faouder P; Bertrand-Michel J; Dupuy A; Dunn CK; Xuan ICY; Casas J; Fabrias G; Hampson DR; Levade T; Drake RR; Medin JA; Walkley SU
Am J Pathol; 2017 Apr; 187(4):864-883. PubMed ID: 28342444
[TBL] [Abstract][Full Text] [Related]
17. Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1.
Brooks BM; Yeh CD; Beers J; Liu C; Cheng YS; Gorshkov K; Zou J; Zheng W; Chen CZ
Stem Cell Res; 2021 May; 53():102387. PubMed ID: 34088014
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.
Rybova J; Kuchar L; Sikora J; McKillop WM; Medin JA
J Inherit Metab Dis; 2022 Nov; 45(6):1175-1190. PubMed ID: 36083604
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]