(Q35825859)

10 August 2017

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title

The cell biology of lysosomal storage disorders (English)

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10 August 2017

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Gerrit van Meer

2

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Anthony H. Futerman

object named as

Anthony H Futerman

series ordinal

1

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publication date

1 July 2004

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Nature Reviews Molecular Cell Biology

10 August 2017

published in

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10 August 2017

volume

5

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10 August 2017

issue

7

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10 August 2017

page(s)

554-565

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Topology of glycosphingolipid degradation

10 August 2017

cites work

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Proteomic analysis of human lysosomes: application to monocytic and breast cancer cells

21 January 2018

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At the acidic edge: emerging functions for lysosomal membrane proteins

21 January 2018

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Lysosomal transport disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

Presence of an unusual GM2 derivative, taurine-conjugated GM2, in Tay-Sachs brain

21 January 2018

1 reference

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

21 January 2018

1 reference

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

21 January 2018

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Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells

21 January 2018

1 reference

Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease).

21 January 2018

1 reference

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis

21 January 2018

1 reference

New insights into the mechanisms of protein palmitoylation.

21 January 2018

1 reference

Disruption ofPPT2in mice causes an unusual lysosomal storage disorder with neurovisceral features

21 January 2018

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A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease

21 January 2018

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Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

21 January 2018

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The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

21 January 2018

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Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

21 January 2018

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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

21 January 2018

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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

21 January 2018

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Jamming the endosomal system: lipid rafts and lysosomal storage diseases.

21 January 2018

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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

21 January 2018

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Organelle-specific initiation of cell death pathways

21 January 2018

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Destination 'lysosome': a target organelle for tumour cell killing?

21 January 2018

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Loss of endosomal/lysosomal membrane impermeability is an early event in amyloid Abeta1-42 pathogenesis

21 January 2018

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Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes

21 January 2018

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Lipid traffic: the ABC of transbilayer movement

21 January 2018

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ABCA2: a candidate regulator of neural transmembrane lipid transport

21 January 2018

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Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease

21 January 2018

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Membrane proximal lysosomes are the major vesicles responsible for calcium-dependent exocytosis in nonsecretory cells

21 January 2018

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Regulated secretion of conventional lysosomes

21 January 2018

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Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes

21 January 2018

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Trafficking of lysosomal cathepsin B-green fluorescent protein to the surface of thyroid epithelial cells involves the endosomal/lysosomal compartment

21 January 2018

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Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease

21 January 2018

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Storage diseases: new insights into sphingolipid functions

21 January 2018

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Broad screening test for sphingolipid-storage diseases.

21 January 2018

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Glucosylceramide modulates membrane traffic along the endocytic pathway

21 January 2018

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Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases

21 January 2018

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Structure and function of sphingolipid- and cholesterol-rich membrane rafts

21 January 2018

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Lipid rafts make for slippery platforms

21 January 2018

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Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent

21 January 2018

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The role of sphingolipids in neuronal development: lessons from models of sphingolipid storage diseases

21 January 2018

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The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin

21 January 2018

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Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

21 January 2018

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The yeast model for Batten disease: a role for Btn2p in the trafficking of the Golgi-associated vesicular targeting protein, Yif1p

21 January 2018

1 reference

Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog

21 January 2018

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The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types

21 January 2018

1 reference

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

21 January 2018

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The Ceramide-centric universe of lipid-mediated cell regulation: stress encounters of the lipid kind

21 January 2018

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Cell autonomous apoptosis defects in acid sphingomyelinase knockout fibroblasts.

21 January 2018

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Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes

21 January 2018

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Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry

21 January 2018

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Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

21 January 2018

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Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin

21 January 2018

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Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway

21 January 2018

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Calcium - a life and death signal

21 January 2018

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Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

21 January 2018

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Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling

21 January 2018

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Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

21 January 2018

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Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB

21 January 2018

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Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease

21 January 2018

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Lysosomal storage disorders: emerging therapeutic options require early diagnosis

21 January 2018

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Gene Transfer Strategies for Correction of Lysosomal Storage Disorders

21 January 2018

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Gene therapy progress and prospects: gene therapy of lysosomal storage disorders

21 January 2018

1 reference

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

21 January 2018

1 reference

Dexamethasone-Mediated Up-Regulation of the Mannose Receptor Improves the Delivery of Recombinant Glucocerebrosidase to Gaucher Macrophages

21 January 2018

1 reference

Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy

21 January 2018

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Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

21 January 2018

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A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

21 January 2018

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New directions in the treatment of Gaucher disease

21 January 2018

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X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

21 January 2018

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Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

21 January 2018

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Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

21 January 2018

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Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

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21 January 2018

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Membrane dynamics and the biogenesis of lysosomes

21 January 2018

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Vesicle fusion and formation at the surface of pinocytic vacuoles in macrophages

21 January 2018

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Dendritic cell maturation triggers retrograde MHC class II transport from lysosomes to the plasma membrane

21 January 2018

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21 January 2018

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Endosomal compartmentalization in three dimensions: Implications for membrane fusion

21 January 2018

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

21 January 2018

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21 January 2018

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Prevalence of lysosomal storage disorders

21 January 2018

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Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption

21 January 2018

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Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

21 January 2018

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Exploring Cells with a Centrifuge

21 January 2018

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A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

31 March 2020

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Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells

31 March 2020

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Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

31 March 2020

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Orchestrating the unfolded protein response in health and disease

31 March 2020

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Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

31 March 2020

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Cholesterol homeostasis and function in neurons of the central nervous system

31 March 2020

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Tumor response to radiotherapy regulated by endothelial cell apoptosis

31 March 2020

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Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

31 March 2020

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Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

31 March 2020

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Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide

31 March 2020

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Enzyme replacement in Anderson-Fabry disease

31 March 2020

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Fabry disease: recent advances in enzyme replacement therapy

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRM1423

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10 August 2017

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