From Lysosomal Storage Diseases to NKT Cell Activation and Back

Existing Reviews

Please note, new claims can take a short while to show up.

No claims yet.

Annotation Summary

Term Occurence Count Dictionary
leukodystrophy 2 endocrinologydiseases
lysosomal storage disease 2 endocrinologydiseases
metachromatic leukodystrophy 1 endocrinologydiseases
obesity 1 endocrinologydiseases
Fabry disease 15 endocrinologydiseases
Krabbe disease 1 endocrinologydiseases
Sandhoff disease 3 endocrinologydiseases
gangliosidosis 2 endocrinologydiseases
mucopolysaccharidosis 2 endocrinologydiseases

There are not enough annotations found in this document to create the proximity graph.

Review

Having read the paper, please pick a pair of statements from the paper to indicate that a drug and disease are related.

Select Drug Character Offset Drug Term Instance
Select Disease Character Offset Disease Term Instance
Fabry disease 11718 Gal(α1→2)-α-galactosylceramide, which upon galactose removal by α-galactosidase A (the enzyme deficient in Fabry disease ), becomes an iNKT cell antigen [[41]]. However, it was suggested that naturally-occurring glycolipids,
Fabry disease 15675 [[41]]. In this paper, preliminary data suggested that iNKT cells were reduced by approximately 50% in Fabry disease mice when compared to wild-type mice [[41]]. A few years later, a reduction in iNKT cell number was
Fabry disease 16951 reported [[13]]. In Table 3, studies on NKT in LSDs patients are listed. Earlier studies in Gaucher and Fabry disease patient, analyzed “iNKT-like” cells by the use of an antibody against Vα24 TCR α-chain, and no
Fabry disease 18267 analysis of iNKT cell subsets revealed disease-specific alterations. While the iNKT cell population from Fabry disease patients has a decreased percentage of cells expressing CD4 with a concomitant increase of CD4− iNKT
Fabry disease 18585 Fabry and NPC diseases display a reduction in iNKT cells expressing CD4 [[60],[64]]. In the case of Fabry disease , in both mice and patients, these phenotypic alterations were accompanied by functional alterations
Fabry disease 18907 cells might play a role in vascular inflammation leading to endothelial cell dysfunction, a feature of Fabry disease .The analysis of type II NKT cells is complicated by the lack of specific markers that identify these
Fabry disease 20493 explanation was proposed together with the first description of a reduction in iNKT cell numbers in Fabry disease [[41]]. In this study, α-galactosidase A was shown to be necessary for the processing of a synthetic
Fabry disease 21244 iNKT cells, leading to a reduction in their numbers. Later, a putative accumulation of iGb3 in the Fabry disease mouse model has been suggested to be the link to the overstimulation and decreased number of iNKT cells
Fabry disease 21534 addressed directly. The presence of iGb3 in the thymus was controversial, and in 2012 it was shown that, in Fabry disease mice, the storage of globotriaosylceramide (Gb3) is responsible for the reduction of both iNKT cell
Fabry disease 22628 thymus. This idea was then challenged by the discovery that the enzyme α-galactosidase A, defective in Fabry disease , has a role in the degradation of endogenous antigens [[46]], suggesting that the reduction in iNKT
Fabry disease 23025 further supported by the identification of signals of chronic activation in residual iNKT cells from Fabry disease mice [[63]]. It is known that several GSLs have the capacity to bind to CD1d molecules [[14]], however,
Fabry disease 23538 defects [[61]]. This hypothesis was recently proven for the GSL Gb3, which accumulates in high amounts in Fabry disease . Gb3 was identified as a CD1d ligand capable of inhibiting iNKT cell activation by competing with endogenous
Fabry disease 23837 Therapy on NKT CellsEnzyme replacement therapy (ERT) is available for some LSDs, namely Gaucher disease, Fabry disease , Pompe disease, mucopolysaccharidosis (MPS)-I, MPS-II, MPS-Iva, and MPS VI [[78]]. ERT consists of the
Fabry disease 24508 correcting hepatosplenomegaly and thrombocytopenia and reducing bone complications [[79],[80]]. In Fabry disease , clinical trials have shown an improvement in pain and in cardiac disease [[81]]. However, little is
Fabry disease 24673 and in cardiac disease [[81]]. However, little is known about the effect of ERT on NKT cells.In the Fabry disease mouse model, ERT was shown to partially prevent the decrease in the number of splenic iNKT cells [[64]].
Krabbe disease 16525 iNKT cell numbers in mouse models of metachromatic leukodystrophy, mucopolysaccharidosis type I, and Krabbe disease [[66]]. These results raised the hypothesis that the iNKT cell defects encountered in LSDs were not
Sandhoff disease 12003 Streptococcus pneumoniae, might also need galactose removal to become antigenic [[42]]. Studies with Sandhoff disease mice showed that β-hexosaminidase activity was important for removing β-linked N-acetylgalactosamine
Sandhoff disease 15824 mice [[41]]. A few years later, a reduction in iNKT cell number was also described in a mouse model of Sandhoff disease [[43]]. Initially, these defects were thought to be disease-specific. However, in the following years,
Sandhoff disease 16195 [[51],[60]], or Tay-Sachs [[61]] diseases, and confirming the alterations in Fabry [[61],[63],[64],[65]] and Sandhoff disease s [[61]]. It was believed that lysosomal dysfunction per se, independently of the type of substrate stored,
gangliosidosis 16012 However, in the following years, other papers were published describing iNKT cell alterations in GM1 gangliosidosis [[60],[61]], Niemann-Pick type C1 (NPC1) [[61],[62]], NPC2 [[51],[60]], or Tay-Sachs [[61]] diseases,
gangliosidosis 28837 [[60]]Sandhoffβ-hexosaminidase A/B↓ [[43],[61]]NDNDβ subunitTay-Sachsβ-hexosaminidase A↓ [[61]]NDNDα subunitGM1 gangliosidosis β-galactosidase↓ [[60],[61]]NDNDMetachromatic leukodystrophyArylsulphatase A= [[66]]NDNDMPS Iα-L-iduronidase=
leukodystrophy 16475 However, a few years later, a report described normal iNKT cell numbers in mouse models of metachromatic leukodystrophy , mucopolysaccharidosis type I, and Krabbe disease [[66]]. These results raised the hypothesis that the
leukodystrophy 28900 subunitTay-Sachsβ-hexosaminidase A↓ [[61]]NDNDα subunitGM1 gangliosidosisβ-galactosidase↓ [[60],[61]]NDNDMetachromatic leukodystrophy Arylsulphatase A= [[66]]NDNDMPS Iα-L-iduronidase= [[66]]NDNDKrabbeβ-galactosylceramidase= [[66]]NDNDGaucherβ-glucosidase
lysosomal storage disease 2366 other proteins necessary for the degradation or transport of macromolecules in the lysosome lead to lysosomal storage disease s (LSDs). The main feature of LSDs is the accumulation of different types of molecules in the lysosome,
lysosomal storage disease 27674 in the antigen-presenting cell, that can explain invariant Natural Killer T (iNKT) cell defects in lysosomal storage disease s (LSDs). GSL, glycosphingolipid.ijms-18-00502-t001_Table 1Table 1Main differences between iNKT and type
metachromatic leukodystrophy 16461 iNKT cells. However, a few years later, a report described normal iNKT cell numbers in mouse models of metachromatic leukodystrophy , mucopolysaccharidosis type I, and Krabbe disease [[66]]. These results raised the hypothesis that the
mucopolysaccharidosis 16491 later, a report described normal iNKT cell numbers in mouse models of metachromatic leukodystrophy, mucopolysaccharidosis type I, and Krabbe disease [[66]]. These results raised the hypothesis that the iNKT cell defects encountered
mucopolysaccharidosis 23867 replacement therapy (ERT) is available for some LSDs, namely Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis (MPS)-I, MPS-II, MPS-Iva, and MPS VI [[78]]. ERT consists of the infusion of a recombinant enzyme that
obesity 6090 [[19]].2.1.1. iNKT CellsiNKT cells are abundant in adipose tissue, and influence the development of obesity and metabolic disorder [[20],[21],[22],[23],[24],[25],[26]]. They are also frequent in the mouse liver

You must be authorized to submit a review.