Impairment of homeostasis in lysosomal storage disorders (Q26864999)

language of work or name

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July 2014

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66

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PubMed

page(s)

472-7

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PubMed

issue

7

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Mechanisms of endocytosis

PubMed

cites work

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Mammalian macroautophagy at a glance

21 January 2018

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Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein

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Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases

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ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

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Autophagy in lysosomal storage disorders

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Mitochondrial Ca2+ homeostasis in lysosomal storage diseases

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Common and uncommon pathogenic cascades in lysosomal storage diseases

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Gaucher disease: multiple lessons from a single gene disorder

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Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.

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Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

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Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

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Chemical and biological approaches synergize to ameliorate protein-folding diseases.

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Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

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Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts

21 January 2018

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Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding

21 January 2018

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Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.

21 January 2018

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Transcriptional activation of lysosomal exocytosis promotes cellular clearance

21 January 2018

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TFEB links autophagy to lysosomal biogenesis

21 January 2018

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The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes

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Secondary lipid accumulation in lysosomal disease

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Secondary alterations of sphingolipid metabolism in lysosomal storage diseases.

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Secondary storage of dermatan sulfate in Sanfilippo disease

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Lysosomal disorders: from storage to cellular damage

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Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

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Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

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A block of autophagy in lysosomal storage disorders

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Regulation of lamp2a levels in the lysosomal membrane

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Chaperone-mediated autophagy is defective in mucolipidosis type IV.

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Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses

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Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy

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Autophagy gone awry in neurodegenerative diseases

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Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations

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Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

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The sphingolipid salvage pathway in ceramide metabolism and signaling

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Benefits from unearthing "a biochemical Rosetta Stone".

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Treatment of lysosomal storage disorders : progress with enzyme replacement therapy

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Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges

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Enzyme replacement in Gaucher disease

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The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

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Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions

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Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

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Gene therapy for lysosomal storage diseases: progress, challenges and future prospects

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Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders

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Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat

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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

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2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: implications for therapy

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Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease

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Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

21 January 2018

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Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis

21 January 2018

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