Dysregulation of autophagy as a common mechanism in lysosomal storage diseases.

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Annotation Summary

Term Occurence Count Dictionary
sphingolipidosis 1 endocrinologydiseases
Sandhoff disease 1 endocrinologydiseases
eliglustat 1 endocrinologydiseasesdrugs
lysosomal storage disease 1 endocrinologydiseases
miglustat 1 endocrinologydiseasesdrugs
mucopolysaccharidosis 1 endocrinologydiseases
Danon disease 5 endocrinologydiseases
Fabry disease 2 endocrinologydiseases
Mucolipidosis type IV 3 endocrinologydiseases
mucolipidosis 1 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
eliglustat 42834 and taliglucerase alfa [[161]–[163]], along with two substrate reduction therapies, miglustat and eliglustat [[164],[165]]. Recent data demonstrate that ERT for the GAA enzyme deficient in Pompe disease improves
miglustat 42820 velaglucerase alfa and taliglucerase alfa [[161]–[163]], along with two substrate reduction therapies, miglustat and eliglustat [[164],[165]]. Recent data demonstrate that ERT for the GAA enzyme deficient in Pompe
Select Disease Character Offset Disease Term Instance
Danon disease 10442 autophagic cargo [[116]–[118]]BlockNot known; Possibly due to defects in lysosomal acidification [[116]] Danon disease LAMP2Isoform LAMP2bPutative role in autophagosome–lysosome fusionGlycogenAccumulation of autophagosomes
Danon disease 29930 hydrolysis, and autophagosome maturation and fusion with lysosomes [[113]]. They include Pompe disease, Danon disease and X-linked myopathy with excessive autophagy (XMEA).Pompe diseasePompe disease is caused by mutations
Danon disease 30943 [[119],[120]], and thus, defective autophagy is implicated as a disease mechanism in Pompe disease. Danon disease Danon disease is an X-linked disorder caused by mutations in the LAMP2 gene, which encodes a lysosomal
Danon disease 30956 [[119],[120]], and thus, defective autophagy is implicated as a disease mechanism in Pompe disease.Danon disease Danon disease is an X-linked disorder caused by mutations in the LAMP2 gene, which encodes a lysosomal membrane protein
Danon disease 31204 required for protein translocation in CMA [[122]], mutations in the LAMP2b isoform are associated with Danon disease [[121]]. Various tissues including liver, skeletal and heart muscle from Lamp2-deficient mice displayed
Fabry disease 20992 undegraded sphingolipids [[68]]. Members of the sphingolipidoses include Niemann–Pick, Gaucher and Fabry disease s, mucolipidosis, and GM1/2 gangliosidoses such as Tay-Sachs and Sandhoff diseases [[68]]. Alterations
Fabry disease 42497 replace the absent or non-functional hydrolytic enzyme is approved for patients with Gaucher, Pompe and Fabry disease s and some mucopolysaccharidoses, including MPS type I [[159],[160]]. For Gaucher disease, ERT for the
Mucolipidosis type IV 9966 autophagic cargo [[92],[93]]BlockNot known; Possibly due to reduction in cathepsin B/D activity [[92]] Mucolipidosis type IV MCOLN1TRPML1Late endo-lysosomal Ca2+ transporterGangliosides, phospholipids, mucopolysaccharidesAccumulation
Mucolipidosis type IV 27203 deficits [[97]]. Together, multiple model systems highlight deregulation of autophagy in Gaucher disease. Mucolipidosis type IV Mucolipidosis type IV (MLIV) is a neurodegenerative condition, caused by mutations in the MCOLN1 gene
Mucolipidosis type IV 27224 multiple model systems highlight deregulation of autophagy in Gaucher disease.Mucolipidosis type IV Mucolipidosis type IV (MLIV) is a neurodegenerative condition, caused by mutations in the MCOLN1 gene that result in the loss
Sandhoff disease 21070 Niemann–Pick, Gaucher and Fabry diseases, mucolipidosis, and GM1/2 gangliosidoses such as Tay-Sachs and Sandhoff disease s [[68]]. Alterations in autophagy have been reported in some of the sphingolipidoses; the most extensively
lysosomal storage disease 81 Title: Essays in BiochemistryDysregulation of autophagy as a common mechanism in lysosomal storage disease sJon D. LaneViktor I. KorolchukJames T. MurrayElena SeranovaKyle J. ConnollyMalgorzata ZatykaTatiana R.
mucolipidosis 21008 sphingolipids [[68]]. Members of the sphingolipidoses include Niemann–Pick, Gaucher and Fabry diseases, mucolipidosis , and GM1/2 gangliosidoses such as Tay-Sachs and Sandhoff diseases [[68]]. Alterations in autophagy have
mucopolysaccharidosis 41651 overexpression in various cell and mouse models of LSDs, including multiple sulfatase deficiency (MSD) and mucopolysaccharidosis type IIIA (MPS-IIIA) where a block in autophagy was previously reported [[155],[158]]. Overexpression
sphingolipidosis 25103 disease mechanism in Niemann–Pick disease.Gaucher diseaseGaucher disease is the most common form of sphingolipidosis [[86]], and is caused by a deficiency in glucocerebrosidase (GCase) activity which catalyses the final

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