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Niemann-Pick type C disease: The atypical sphingolipidosis.
Newton J, Milstien S, Spiegel S. Newton J, et al. Adv Biol Regul. 2018 Dec;70:82-88. doi: 10.1016/j.jbior.2018.08.001. Epub 2018 Aug 28. Adv Biol Regul. 2018. PMID: 30205942 Free PMC article. Review.
Here we focus on the defects of sphingolipid catabolism in the endolysosomal compartment and how they contribute to the biology and pathology observed in NPC disease. This review highlights the need for further work on understanding and possibly developing treatments to co …
Here we focus on the defects of sphingolipid catabolism in the endolysosomal compartment and how they contribute to the biology and patholog …
DEGS1 variant causes neurological disorder.
Dolgin V, Straussberg R, Xu R, Mileva I, Yogev Y, Khoury R, Konen O, Barhum Y, Zvulunov A, Mao C, Birk OS. Dolgin V, et al. Eur J Hum Genet. 2019 Nov;27(11):1668-1676. doi: 10.1038/s41431-019-0444-z. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186544 Free PMC article.
Homozygosity mapping identified a single 8.7 Mb disease-associated locus on chromosome 1q41-1q42.13 between rs1511695 and rs537250 (two-point LOD score 2.1). Whole exome sequencing, validated through Sanger sequencing, identified within this locus a single disease-associat …
Homozygosity mapping identified a single 8.7 Mb disease-associated locus on chromosome 1q41-1q42.13 between rs1511695 and rs537250 (two-poin …
Lysosphingolipids and sphingolipidoses: Psychosine in Krabbe's disease.
Spassieva S, Bieberich E. Spassieva S, et al. J Neurosci Res. 2016 Nov;94(11):974-81. doi: 10.1002/jnr.23888. J Neurosci Res. 2016. PMID: 27638582 Free PMC article. Review.
Krabbe's disease (KD), or globoid cell leukodystrophy, was one of the first sphingolipidosis for which the raft concept offered a potential mechanism. KD is caused by mutations in the enzyme beta-galactocerebrosidase; however, elevation of its substrate, galactosylceramide …
Krabbe's disease (KD), or globoid cell leukodystrophy, was one of the first sphingolipidosis for which the raft concept offered a pot …
Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism.
Choi YJ, Saba JD. Choi YJ, et al. Adv Biol Regul. 2019 Jan;71:128-140. doi: 10.1016/j.jbior.2018.09.004. Epub 2018 Sep 25. Adv Biol Regul. 2019. PMID: 30274713 Free PMC article. Review.
We now refer to this condition as SPL Insufficiency Syndrome, or SPLIS. Some features of this new sphingolipidosis were predicted by the reported phenotypes of Sgpl1 homozygous null mice that serve as vertebrate SPLIS disease models. ...
We now refer to this condition as SPL Insufficiency Syndrome, or SPLIS. Some features of this new sphingolipidosis were predicted …
Fabry disease in cardiology practice: Literature review and expert point of view.
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP. Hagège A, et al. Arch Cardiovasc Dis. 2019 Apr;112(4):278-287. doi: 10.1016/j.acvd.2019.01.002. Epub 2019 Feb 28. Arch Cardiovasc Dis. 2019. PMID: 30826269 Free article. Review.
Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal alpha-galactosidase A. ...
Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal alpha-galac …
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Hülsmeier AJ, Toelle SP, Bellstedt P, Wentzel C, Bahr A, Kolokotronis K, Hornemann T. Hülsmeier AJ, et al. J Lipid Res. 2023 Dec;64(12):100464. doi: 10.1016/j.jlr.2023.100464. Epub 2023 Oct 27. J Lipid Res. 2023. PMID: 37890668 Free PMC article.
Here, we characterize two novel DEGS1 variants of unknown significance (VUS), provide a structural model with a predicted substrate binding site, and propose a regulatory link between DEGS1 and fatty acid desaturase 3 (FADS3). ...
Here, we characterize two novel DEGS1 variants of unknown significance (VUS), provide a structural model with a predicted substrate b …
Lysoglycosphingolipids have the ability to induce cell death through direct PI3K inhibition.
Watanabe R, Tsuji D, Tanaka H, Uno MS, Ohnishi Y, Kitaguchi S, Matsugu T, Nakae R, Teramoto H, Yamamoto K, Shinohara Y, Hirokawa T, Okino N, Ito M, Itoh K. Watanabe R, et al. J Neurochem. 2023 Dec;167(6):753-765. doi: 10.1111/jnc.16012. Epub 2023 Nov 17. J Neurochem. 2023. PMID: 37975558
Lysoglycosphingolipids (lysoGSLs), also known to accumulate in the tissues of sphingolipidosis patients, exhibit cytotoxicity. LysoGSLs are the possible pathogenic cause, but the mechanisms are still unknown in detail. ...Furthermore, we revealed that the increment of lyso …
Lysoglycosphingolipids (lysoGSLs), also known to accumulate in the tissues of sphingolipidosis patients, exhibit cytotoxicity. LysoGS …
Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.
Cachón-González MB, Wang S, Cox TM. Cachón-González MB, et al. Hum Mol Genet. 2021 Nov 1;30(22):2082-2099. doi: 10.1093/hmg/ddab159. Hum Mol Genet. 2021. PMID: 34172992 Free PMC article.
Krabbe disease, an inherited leukodystrophy, is a sphingolipidosis caused by deficiency of beta-galactocerebrosidase: it is characterized by myelin loss, and pathological activation of macrophage/microglia and astrocytes. ...In Sandhoff disease, another sphingolipid disord …
Krabbe disease, an inherited leukodystrophy, is a sphingolipidosis caused by deficiency of beta-galactocerebrosidase: it is character …
Correlations Between Serum Cholesterol and Vascular Lesions in Fabry Disease Patients.
Katsuta H, Tsuboi K, Yamamoto H, Goto H. Katsuta H, et al. Circ J. 2018 Nov 24;82(12):3058-3063. doi: 10.1253/circj.CJ-18-0378. Epub 2018 Oct 3. Circ J. 2018. PMID: 30282881 Free article. Clinical Trial.
CONCLUSIONS: We concluded that increased low-density lipoprotein-cholesterol uptake to the vascular wall caused by endothelial dysfunction is likely to contribute to the high HDL-C/T-Chol ratio observed in Fabry disease patients....
CONCLUSIONS: We concluded that increased low-density lipoprotein-cholesterol uptake to the vascular wall caused by endothelial dysfunction i …
Gaucher's disease in Lithuania: its diagnosis and treatment.
Kleinotienė G, Tylki-Szymanska A, Czartoryska B. Kleinotienė G, et al. Medicina (Kaunas). 2011;47(7):405-11. Medicina (Kaunas). 2011. PMID: 22112991 Free article.
Gaucher's disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside. Gaucher's disease is the most frequent type of sphingolipidosis as well as the most frequent lysosomal disease. Clinicall …
Gaucher's disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucoc …
16 results