Gaucher’s disease with Parkinson’s disease

Bembi, Bruno; Marsala, Sandro Zambito; Sidransky, Ellen; Ciana, Giovanni; Carrozzi, Marco; Zorzon, Marino; Martini, Cristina; Gioulis, Manuela; Pittis, María Gabriela; Capus, L.

doi:10.1212/01.wnl.0000072482.70963.d7

Cited by 128 publications

(98 citation statements)

References 6 publications

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“…ERT induced a decrease in MHC-II expression and partial correction of the lymphocyte imbalance (15,16,92). Monocytes derived from ERT-treated GD displayed increased levels of CD1d and MHC-II.…”

Section: Patients With Gaucher's Disease Before and After Enzyme Replmentioning

confidence: 95%

“…Sphingosine kinase is important for 1) revascularization responses, 2) regulating the maturation of vascular endothelial progenitors, and 3) controlling cellular recruitment (15,85,89). The cellular balance of the level of Cer, SPH, and S1P, termed the "sphingolipid rheostat," dictates cell fate, whereby Cer and SPH enhance apoptosis while the S1P promotes cell survival and proliferation (16,125,129). However, the actual sphingolipid rheostat may be broad, comprising numerous additional molecules in the SL metabolic map as well as those in related metabolic pathways.…”

Section: Sphingolipid Steady State In Health and Diseasementioning

confidence: 99%

“…ERT decreases MHC-II expression in GD, which correlates with chitotriosidase activity and is a marker of inflamed macrophages (14,15,91). Treatment with CBE, an irreversible inhibitor of glucerase activity, of monocytes either from GD patients or healthy subjects, leads to increased surface expression of the lipid-binding molecule CD1d (15,92,16).…”

Section: Patients With Gaucher's Disease Before and After Enzyme Replmentioning

confidence: 99%

“…Accumulation of SL in monocytes can lead to regulatory T cell (Treg) imbalances in GD (15,92,16). The accumulation of GC may result to inappropriate cross talk by immune cells and the perpetuation of chronic inflammation in these patients (14,15,91).…”

Section: Patients With Gaucher's Disease Before and After Enzyme Replmentioning

confidence: 99%

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Compounds of the sphingomyelin-ceramide-glycosphingolipid pathways as secondary messenger molecules: new targets for novel therapies for fatty liver disease and insulin resistance

Ilan

2016

American Journal of Physiology-Gastrointestinal and Liver Physi

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The compounds of sphingomyelin-ceramide-glycosphingolipid pathways have been studied as potential secondary messenger molecules in various systems, along with liver function and insulin resistance. Secondary messenger molecules act directly or indirectly to affect cell organelles and intercellular interactions. Their potential role in the pathogenesis of steatohepatitis and diabetes has been suggested. Data samples collected from patients with Gaucher's disease, who had high levels of glucocerebroside, support a role for compounds from these pathways as a messenger molecules in the pathogenesis of fatty liver disease and diabetes. The present review summarizes some of the recent data on the role of glycosphingolipid molecules as messenger molecules in various physiological and pathological conditions, more specifically including insulin resistance and fatty liver disease.

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Section: Patients With Gaucher's Disease Before and After Enzyme Replmentioning

confidence: 95%

Section: Sphingolipid Steady State In Health and Diseasementioning

confidence: 99%

Section: Patients With Gaucher's Disease Before and After Enzyme Replmentioning

confidence: 99%

Section: Patients With Gaucher's Disease Before and After Enzyme Replmentioning

confidence: 99%

See 2 more Smart Citations

Compounds of the sphingomyelin-ceramide-glycosphingolipid pathways as secondary messenger molecules: new targets for novel therapies for fatty liver disease and insulin resistance

Ilan

2016

American Journal of Physiology-Gastrointestinal and Liver Physi

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“…Moreover, all reports of G377S homozygotes involve type 1 GD patients (16,(25)(26)(27). Accordingly, in the present study four G377S homozygotes had a type 1 phenotype.…”

Section: Neuronopathic Patients With Mutations N370s and G377smentioning

confidence: 99%

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

Rozenberg¹,

Araújo²,

Fox³

et al. 2006

Braz J Med Biol Res

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Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47% of all the alleles, but N370S/N370S homozygosity was found in only 10% of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention. Recombinant alleles were detected at a high frequency: 44% of the chromosomes bearing mutation L444P had other mutations derived from the pseudogene sequence, present in 25% of patients. Three neuronopathic type 2 patients were homozygous for L444P, all presenting additional mutations (E326K or recombinant alleles) that probably lead to the more severe phenotypes. Six children, classified as type 1 GD patients, had a L444P/L444P genotype, showing that neuronopathic symptoms may only manifest later in life. This would indicate the need for a higher treatment dose during enzyme replacement therapy. Finally, mutation G377S was present in 4 homozygous type 1 patients and also in compound heterozygosity in 5 (42%) type 3 patients. These findings indicate that G377S cannot be unambiguously classified as mild and suggest an allele-dose effect for this mutation.

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