Pathophysiology of neuropathic lysosomal storage disorders (Q37739318)

22 August 2017

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title

Pathophysiology of neuropathic lysosomal storage disorders (English)

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22 August 2017

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Cinzia Maria Bellettato

series ordinal

1

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PubMed ID

20429032

22 August 2017

Maurizio Scarpa

series ordinal

2

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22 August 2017

29 April 2010

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Journal of Inherited Metabolic Disease

22 August 2017

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22 August 2017

33

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22 August 2017

347-362

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22 August 2017

4

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9075-9

22 August 2017

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Inability of tau to properly regulate neuronal microtubule dynamics: a loss-of-function mechanism by which tau might mediate neuronal cell death

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Ryanodine receptor calcium release channels

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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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Selectivity and types of cell death in the neuronal ceroid lipofuscinoses

21 January 2018

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Blood to brain to the rescue.

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Consequences of NPC1 and NPC2 loss of function in mammalian neurons

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Autophagy in neurodegeneration and development

21 January 2018

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A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle

21 January 2018

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Brain iron metabolism and neurodegenerative disorders

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12 December 2020

Critical role of iron in the pathogenesis of the murine gangliosidoses.

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12 December 2020

Gangliosides as apoptotic signals in ER stress response

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12 December 2020

Monitoring autophagy in lysosomal storage disorders

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12 December 2020

Oxidative modifications, mitochondrial dysfunction, and impaired protein degradation in Parkinson's disease: how neurons are lost in the Bermuda triangle

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12 December 2020

Oxidative stress in developmental brain disorders

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12 December 2020

Increased neuronal endocytosis and protease delivery to early endosomes in sporadic Alzheimer's disease: neuropathologic evidence for a mechanism of increased beta-amyloidogenesis.

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12 December 2020

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis

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12 December 2020

CHIP-Hsc70 Complex Ubiquitinates Phosphorylated Tau and Enhances Cell Survival

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12 December 2020

Abnormal production of macrophage inflammatory protein-1alpha by microglial cell lines derived from neonatal brains of Sandhoff disease model mice.

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12 December 2020

Secondary lipid accumulation in lysosomal disease

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12 December 2020

Lysosomal dysfunction results in altered energy balance.

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12 December 2020

Lysosomal disorders: from storage to cellular damage

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12 December 2020

Monitoring disease evolution and treatment response in lysosomal disorders by the peripheral benzodiazepine receptor ligand PK11195.

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12 December 2020

Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: evidence for early up-regulation of the endosomal-lysosomal system.

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12 December 2020

Autophagy-mediated clearance of aggresomes is not a universal phenomenon

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12 December 2020

Sequestration of glyceraldehyde-3-phosphate dehydrogenase to aggregates formed by mutant huntingtin

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12 December 2020

Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases

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12 December 2020

Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy.

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12 December 2020

Functional plasticity of microglia: a review

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12 December 2020

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

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12 December 2020

Inhibition of macroautophagy triggers apoptosis

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12 December 2020

INBORN LYSOSOMAL DISEASES.

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12 December 2020

Functions of lipid rafts in biological membranes

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12 December 2020

Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI.

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12 December 2020

Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis.

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12 December 2020

Liaisons dangereuses: autophagy, neuronal survival and neurodegeneration

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12 December 2020

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

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12 December 2020

All-you-can-eat: autophagy in neurodegeneration and neuroprotection.

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12 December 2020

Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis.

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12 December 2020

Mitochondrial dysfunction, free radical generation and cellular stress response in neurodegenerative disorders

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12 December 2020

GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C.

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12 December 2020

Gangliosides: structure, isolation, and analysis

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12 December 2020

Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome

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12 December 2020

The origin and nature of ramified and amoeboid microglia: a historical review and current concepts

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12 December 2020

Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB.

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12 December 2020

Mutant protein in Huntington disease is resistant to proteolysis in affected brain

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12 December 2020

Lysosomal hydrolases of different classes are abnormally distributed in brains of patients with Alzheimer disease

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12 December 2020

Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease

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12 December 2020

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

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12 December 2020

Emerging role for autophagy in the removal of aggresomes in Schwann cells.

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12 December 2020

The endocytic pathway: a mosaic of domains

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12 December 2020

Huntingtin cleavage induced by thrombin in vitro

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12 December 2020

Treating lysosomal storage disorders: current practice and future prospects

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12 December 2020

Glycosphingolipids internalized via caveolar-related endocytosis rapidly merge with the clathrin pathway in early endosomes and form microdomains for recycling.

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12 December 2020

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

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12 December 2020

Neurodegeneration in the Niemann-Pick C mouse: glial involvement

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12 December 2020

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

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12 December 2020

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

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12 December 2020

Iron dysregulation and neurodegeneration: the molecular connection

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12 December 2020

The cell biology of lysosomal storage disorders

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12 December 2020

The metabolism of neuronal iron and its pathogenic role in neurological disease: review

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12 December 2020

Metachromatic leukodystrophy: consequences of sulphatide accumulation.

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12 December 2020

Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction.

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Induction of beta-amyloid-containing polypeptides in hippocampus: evidence for a concomitant loss of synaptic proteins and interactions with an excitotoxin

1 reference

12 December 2020

Sarco/endoplasmic reticulum Ca2+ (SERCA)-pumps: link to heart beats and calcium waves

1 reference

12 December 2020

Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options

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12 December 2020

The roles of intracellular protein-degradation pathways in neurodegeneration

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12 December 2020

Functional roles of glycosphingolipids in signal transduction via lipid rafts

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12 December 2020

Iron metabolism and toxicity

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12 December 2020

Dynamic organization of endocytic pathways in axons of cultured sympathetic neurons

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12 December 2020

Lysosomal malfunction accompanies alpha-synuclein aggregation in a progressive mouse model of Parkinson's disease

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12 December 2020

Storage solutions: treating lysosomal disorders of the brain

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12 December 2020

Mitochondrial aberrations in mucolipidosis Type IV.

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12 December 2020

Autophagy regulates the processing of amino terminal huntingtin fragments

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12 December 2020

Mitochondrial Ca2+ homeostasis in lysosomal storage diseases

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12 December 2020

Macrophages that have ingested apoptotic cells in vitro inhibit proinflammatory cytokine production through autocrine/paracrine mechanisms involving TGF-beta, PGE2, and PAF

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12 December 2020

Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease.

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12 December 2020

Cellular pathology of lysosomal storage disorders.

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12 December 2020

Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions.

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12 December 2020

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

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12 December 2020

Clearance of alpha-synuclein oligomeric intermediates via the lysosomal degradation pathway.

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12 December 2020

Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice

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12 December 2020

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

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12 December 2020

Prevalence of lysosomal storage disorders

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12 December 2020

Calcium and neurodegeneration

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12 December 2020

Iron transport & homeostasis mechanisms: their role in health & disease.

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12 December 2020

Calcium signalling: dynamics, homeostasis and remodelling

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12 December 2020

Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.

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12 December 2020

Autophagic neuron death.

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12 December 2020

Pathogenic cascades in lysosomal disease-Why so complex?

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12 December 2020

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

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12 December 2020

Etiology and pathogenesis of Parkinson disease.

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12 December 2020

Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy

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12 December 2020

Tau phosphorylation and proteolysis: insights and perspectives.

1 reference

12 December 2020

Autophagy in neurons: a review

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12 December 2020

Axon degeneration mechanisms: commonality amid diversity

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12 December 2020

The neuropathogenic contributions of lysosomal dysfunction

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12 December 2020

Autophagy: a lysosomal degradation pathway with a central role in health and disease

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12 December 2020

Potential therapeutic applications of autophagy

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12 December 2020

Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts

1 reference

12 December 2020

Colocalization of lysosomal hydrolase and beta-amyloid in diffuse plaques of the cerebellum and striatum in Alzheimer's disease and Down's syndrome

1 reference

12 December 2020

Regulation of neuronal cell death and neurodegeneration by members of the Bcl-2 family: therapeutic implications

1 reference

12 December 2020

The endoplasmic reticulum is the site of cholesterol-induced cytotoxicity in macrophages

1 reference

12 December 2020

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

1 reference

12 December 2020

Progress in neuropathology of the neuronal ceroid lipofuscinoses

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12 December 2020

The lysosome and neurodegenerative diseases

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12 December 2020

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1.

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12 December 2020

Ganglioside stimulation of axonal sprouting in vitro

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12 December 2020

Autophagic-lysosomal perturbation enhances tau aggregation in transfectants with induced wild-type tau expression

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12 December 2020

Flotillin-1-enriched lipid raft domains accumulate on maturing phagosomes

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12 December 2020

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

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12 December 2020

Toward enzyme therapy for lysosomal storage diseases

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12 December 2020

An exposed carboxyl group on sialic acid is essential for gangliosides to inhibit calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase: relevance to gangliosidoses.

1 reference

12 December 2020

Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement.

1 reference

12 December 2020

Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B.

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins

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12 December 2020

Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

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12 December 2020

The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

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12 December 2020

Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease

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12 December 2020

Autophagy in health and disease: a double-edged sword

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12 December 2020

A block of autophagy in lysosomal storage disorders

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12 December 2020

Proteomics of the lysosome

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12 December 2020

The molecular machinery of autophagy: unanswered questions

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12 December 2020

Metabolic adaptations to interrupted glycosaminoglycan recycling.

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12 December 2020

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

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12 December 2020

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

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12 December 2020

No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.

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12 December 2020

Depletion of intracellular calcium stores is toxic to SH-SY5Y neuronal cells

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12 December 2020

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

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12 December 2020

Membrane traffic in sphingolipid storage diseases

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12 December 2020

Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

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12 December 2020

Prolonged Alzheimer-like tau hyperphosphorylation induced by simultaneous inhibition of phosphoinositol-3 kinase and protein kinase C in N2a cells

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12 December 2020

The pathogenesis of glycosphingolipid storage disorders

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12 December 2020

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

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12 December 2020

The lysosomal-mitochondrial axis theory of postmitotic aging and cell death

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12 December 2020

The neuronal endosomal-lysosomal system in Alzheimer's disease

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12 December 2020

Chloroquine administration in mice increases beta-amyloid immunoreactivity and attenuates kainate-induced blood-brain barrier dysfunction

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12 December 2020

Secondary accumulation of gangliosides in lysosomal storage disorders

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12 December 2020

A gene network regulating lysosomal biogenesis and function

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12 December 2020

Cytokines in Gaucher's disease

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12 December 2020

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.

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12 December 2020

Regulation of apoptosis by endoplasmic reticulum pathways.

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12 December 2020

Autophagy: regulation and role in disease

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12 December 2020

Lysosomal membrane proteomics and biogenesis of lysosomes

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12 December 2020

Inhibition of autophagy induction delays neuronal cell loss caused by dysfunctional ESCRT-III in frontotemporal dementia

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12 December 2020

Biology of neuronal dysfunction in storage disorders

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12 December 2020

Loss of autophagy in the central nervous system causes neurodegeneration in mice

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12 December 2020

Lysosomal storage diseases: is impaired apoptosis a pathogenic mechanism?

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12 December 2020

Lysosomal storage disorders

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12 December 2020

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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12 December 2020

Lipid raft composition modulates sphingomyelinase activity and ceramide-induced membrane physical alterations

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12 December 2020

10.1007/S10545-010-9075-9

Identifiers

DOI

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22 August 2017

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PubMed ID

20429032