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Items: 1 to 20 of 66

1.
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders
Calogera M. Simonaro, Makiko Yasuda, Edward H. Schuchman
J Inherit Metab Dis. 2025 Jan; 48(1): e12813. Published online 2024 Nov 21. doi: 10.1002/jimd.12813
PMCID:
PMC11670223
ArticlePDF–12M
2.
Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency
Jitka Rybova, Teresa Sundararajan, Ladislav Kuchar, Theresa A. Dlugi, Petr Ruzicka, William M. McKillop, Jeffrey A. Medin
Mol Ther. 2024 Oct 2; 32(10): 3402–3421. Published online 2024 Aug 5. doi: 10.1016/j.ymthe.2024.08.004
PMCID:
PMC11489543
ArticlePDF–8.2M
3.
Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease
Marie K. Norris, Trevor S. Tippetts, Joseph L. Wilkerson, Rebekah J. Nicholson, J. Alan Maschek, Thierry Levade, Jeffrey A. Medin, Scott A. Summers, William L. Holland
Mol Genet Metab Rep. 2024 Jun; 39: 101077. Published online 2024 Apr 3. doi: 10.1016/j.ymgmr.2024.101077
PMCID:
PMC11002753
ArticlePDF–8.3M
4.
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
Vincent Zimmern, Berge Minassian
Genes (Basel) 2024 Feb; 15(2): 171. Published online 2024 Jan 27. doi: 10.3390/genes15020171
PMCID:
PMC10888128
ArticlePDF–752K
5.
Functional analysis of a novel splice site variant in the ASAH1 gene
Shujuan Yan, Fang Fu, Hang Zhou, Ruibin Huang, You Wang, Can Liao
Mol Genet Genomic Med. 2024 Jan; 12(1): e2317. Published online 2023 Nov 14. doi: 10.1002/mgg3.2317
PMCID:
PMC10767590
ArticlePDF–9.2M
6.
Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase
Xingxuan He, Edward H. Schuchman
Biomolecules. 2023 Nov; 13(11): 1623. Published online 2023 Nov 6. doi: 10.3390/biom13111623
PMCID:
PMC10669851
ArticlePDF–1.8M
7.
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
Murtaza S. Nagree, Jitka Rybova, Annie Kleynerman, Carissa J. Ahrenhoerster, Jennifer T. Saville, TianMeng Xu, Maxwell Bachochin, William M. McKillop, Michael W. Lawlor, Alexey V. Pshezhetsky, Olena Isaeva, Matthew D. Budde, Maria Fuller, Jeffrey A. Medin
Commun Biol. 2023; 6: 560. Published online 2023 May 25. doi: 10.1038/s42003-023-04932-w
PMCID:
PMC10212955
ArticlePDF–13M
8.
Combined saposin deficiency: A rare occurrence
Vivek Bhat, R.W. Thergaonkar, Manisha Thakur, T. Rajkamal
Med J Armed Forces India. 2023 Mar-Apr; 79(2): 238–240. Published online 2021 May 12. doi: 10.1016/j.mjafi.2021.01.024
PMCID:
PMC10037043
ArticlePDF–273K
9.
Gene Therapy of Sphingolipid Metabolic Disorders
Alisa A. Shaimardanova, Valeriya V. Solovyeva, Shaza S. Issa, Albert A. Rizvanov
Int J Mol Sci. 2023 Feb; 24(4): 3627. Published online 2023 Feb 11. doi: 10.3390/ijms24043627
PMCID:
PMC9964151
ArticlePDF–755K
10.
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, Jeffrey A. Medin
Biomolecules. 2023 Feb; 13(2): 274. Published online 2023 Feb 1. doi: 10.3390/biom13020274
PMCID:
PMC9953133
ArticlePDF–910K
11.
Impaired autophagic flux and dedifferentiation in podocytes lacking Asah1 gene: Role of lysosomal TRPML1 channel
Guangbi Li, Dandan Huang, Yao Zou, Jason Kidd, Todd W.B. Gehr, Ningjun Li, Joseph K. Ritter, Pin-Lan Li
Biochim Biophys Acta Mol Cell Res. Author manuscript; available in PMC 2023 Jan 23.
Published in final edited form as: Biochim Biophys Acta Mol Cell Res. 2023 Jan; 1870(1): 119386. Published online 2022 Oct 24. doi: 10.1016/j.bbamcr.2022.119386
PMCID:
PMC9869931
ArticlePDF–1.7M
12.
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
Jitka Rybova, Ladislav Kuchar, Jakub Sikora, William M. McKillop, Jeffrey A. Medin
J Inherit Metab Dis. 2022 Nov; 45(6): 1175–1190. Published online 2022 Sep 19. doi: 10.1002/jimd.12552
PMCID:
PMC9826362
ArticlePDF–6.9M
13.
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson
Ann Clin Transl Neurol. 2022 Dec; 9(12): 1941–1952. Published online 2022 Nov 3. doi: 10.1002/acn3.51687
PMCID:
PMC9735369
ArticlePDF–575K
14.
Neutral ceramidase deficiency protects against cisplatin-induced acute kidney injury
Sophia M. Sears, Tess V. Dupre, Parag P. Shah, Deanna L. Davis, Mark A. Doll, Cierra N. Sharp, Alexis A. Vega, Judit Megyesi, Levi J. Beverly, Ashley J. Snider, Lina M. Obeid, Yusuf A. Hannun, Leah J. Siskind
J Lipid Res. 2022 Mar; 63(3): 100179. Published online 2022 Feb 10. doi: 10.1016/j.jlr.2022.100179
PMCID:
PMC8953688
ArticlePDF–2.2M
15.
Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature
Amal Al-Naimi, Haneen Toma, Sara G. Hamad, Tawfeg Ben Omran
Case Rep Genet. 2022; 2022: 2555235. Published online 2022 Feb 10. doi: 10.1155/2022/2555235
PMCID:
PMC8853810
ArticlePDF–1.3M
16.
Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency
Mihaela Axente, Elena-Silvia Shelby, Andrada Mirea, Corina Sporea, Mihaela Badina, Liliana Padure, Daniela Adriana Ion
J Med Life. 2021 May-Jun; 14(3): 424–428. doi: 10.25122/jml-2021-0147
PMCID:
PMC8321613
ArticlePDF–558K
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
Brianna M. Brooks, Charles D. Yeh, Jeanette Beers, Chengyu Liu, Yu-Shan Cheng, Kirill Gorshkov, Jizhong Zou, Wei Zheng, Catherine Z. Chen
Stem Cell Res. Author manuscript; available in PMC 2021 Jul 27.
Published in final edited form as: Stem Cell Res. 2021 May; 53: 102387. Published online 2021 May 12. doi: 10.1016/j.scr.2021.102387
PMCID:
PMC8314383
ArticlePDF–721K
18.
Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease
Shweta Mhatre, Mamta Muranjan, Sunil Karande, Harish Balaji
BMJ Case Rep. 2021; 14(5): e240742. Published online 2021 May 27. doi: 10.1136/bcr-2020-240742
PMCID:
PMC8162101
ArticlePDF–1.9M
19.
Reversal of Endothelial Extracellular Vesicle-Induced Smooth Muscle Phenotype Transition by Hypercholesterolemia Stimulation: Role of NLRP3 Inflammasome Activation
Xinxu Yuan, Owais M. Bhat, Arun Samidurai, Anindita Das, Yang Zhang, Pin-Lan Li
Front Cell Dev Biol. 2020; 8: 597423. Published online 2020 Dec 21. doi: 10.3389/fcell.2020.597423
PMCID:
PMC7779768
ArticlePDF–3.2M
20.
Elusive Roles of the Different Ceramidases in Human Health, Pathophysiology, and Tissue Regeneration
Carolina Duarte, Juliet Akkaoui, Chiaki Yamada, Anny Ho, Cungui Mao, Alexandru Movila
Cells. 2020 Jun; 9(6): 1379. Published online 2020 Jun 2. doi: 10.3390/cells9061379
PMCID:
PMC7349419
ArticlePDF–2.0M

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