New treatments for the mucopolysaccharidoses: from pathophysiology to therapy

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Term Occurence Count Dictionary
17β-estradiol 1 endocrinologydiseasesdrugs
Niemann-Pick disease 2 endocrinologydiseases
lysosomal storage disease 8 endocrinologydiseases
miglustat 3 endocrinologydiseasesdrugs
mucopolysaccharidosis 1 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
17β-estradiol 16840 enzymes involved in GAG production. Genistein, a soy-derived isoflavon with structural similarity to 17β-estradiol , inhibits the tyrosine kinase activation of the EGF receptor, thus inhibiting the signal that leads
miglustat 20678 animals and the reduction of Gm2 ganglioside levels and of neuroinflammation [[46]].The efficacy of miglustat in MPS III patients has been evaluated in a double-blind, randomized controlled clinical trial using
miglustat 20930 endpoints as behavioral disorders, sleep disorders, and hyperactivity [[47]]. The selected dose of miglustat was the same as used in patients with Niemann-Pick type C disease, with the aim to reach therapeutic
miglustat 21498 decreased in the two groups. The reduction of secondary substrates, such as Gm2 gangliosides, with miglustat remains to be evaluated in the future in selected patient series.Manipulation of proinflammatory pathwaysAn
Select Disease Character Offset Disease Term Instance
Niemann-Pick disease 20402 currently approved for the treatment of two other lysosomal storage disorders, Gaucher disease and Niemann-Pick disease type C. Preclinical studies in animal models confirmed a possible efficacy of this therapeutic approach,
Niemann-Pick disease 29485 abnormalities such as impaired calcium homeostasis, first described in lysosomal disorders such as Niemann-Pick disease type C, were observed in MPS. These abnormalities are particularly relevant as acidic calcium stores
lysosomal storage disease 1446 disorders.BackgroundOver the past two decades, extraordinary advancements have been achieved in the treatment of lysosomal storage disease s, including the mucopolysaccharidoses (MPS). Different approaches have been designed to treat these
lysosomal storage disease 1834 towards other advanced approaches, such as gene therapy.Despite considerable success in treating some lysosomal storage disease s, however, current therapies have been unable to cure all the pathological and clinical manifestations
lysosomal storage disease 2388 clinical manifestations of the MPS.The research and the growing expansion of our knowledge in the field of lysosomal storage disease s and MPS represent excellent models of the renewed interest for the biology and the mechanisms of diseases
lysosomal storage disease 3960 new vision of lysosomal function has translated into a better understanding of the pathophysiology of lysosomal storage disease s, including the MPS that are due to the deficiency of lysosomal hydrolases involved in the breakdown
lysosomal storage disease 5753 the complexity of the pathological, functional, and phenotypic manifestations of the MPS and of other lysosomal storage disease s (Fig. 2).Fig. 2Several studies suggest that in mucopolysaccharide storage causes dysfunction of lysosomes
lysosomal storage disease 6146 is important to know the pathophysiology of MPS?The improved understanding of the pathophysiology of lysosomal storage disease s, and in particular of the MPS, has evident and critical implications for the treatment of these disorders.
lysosomal storage disease 27598 is now substantial evidence indicating that the autophagic-lysosomal pathway is heavily affected in lysosomal storage disease s, including some MPS, and that these abnormalities are major determinants of the disease pathophysiology
lysosomal storage disease 28439 speculated that manipulating the autophagic-lysosomal pathway (and correcting its perturbations in the lysosomal storage disease s) may represent a possible strategy for the development of new therapies for MPS. Indeed, preliminary
mucopolysaccharidosis 25751 and in the CSF in MPS I dogs [[48], [56], [57]]. PPS also enhanced the effects of ERT in rats with mucopolysaccharidosis type VI [[54]] and was effective in improving the clinical outcome in MPS VI rats, even when treatment

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