The cellular pathology of lysosomal diseases (Q37944549)

25 August 2017

The cellular pathology of lysosomal diseases (English)

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25 August 2017

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Timothy M Cox

1

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PubMed ID

21990005

25 August 2017

M Begoña Cachón-González

series ordinal

2

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25 August 2017

1 January 2012

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25 August 2017

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25 August 2017

226

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25 August 2017

2

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25 August 2017

241-254

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alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

25 August 2017

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Tissue fractionation studies. 16. Intracellular distribution and properties of alpha-glucosidases in rat liver

21 January 2018

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Prevalence of lysosomal storage disorders

21 January 2018

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The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

21 January 2018

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Proteomics of the lysosome

21 January 2018

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The proteome of lysosomes

21 January 2018

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Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

21 January 2018

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Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

21 January 2018

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Principles of lysosomal membrane degradation: Cellular topology and biochemistry of lysosomal lipid degradation

21 January 2018

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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

21 January 2018

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Lysosome-related organelles

21 January 2018

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Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts

21 January 2018

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A fascination with sugars

21 January 2018

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From serendipity to therapy.

21 January 2018

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Enzyme replacement for lysosomal diseases

21 January 2018

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LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

21 January 2018

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SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

21 January 2018

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Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase

21 January 2018

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Lysosomal degradation of membrane lipids

21 January 2018

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Non-neuronopathic Gaucher disease due to saposin C deficiency.

21 January 2018

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Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme

21 January 2018

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

21 January 2018

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21 January 2018

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Development by self-digestion: molecular mechanisms and biological functions of autophagy

21 January 2018

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Autophagic vacuolar myopathy.

21 January 2018

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The movement of membranous organelles in axons. Electron microscopic identification of anterogradely and retrogradely transported organelles

21 January 2018

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Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy.

21 January 2018

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A block of autophagy in lysosomal storage disorders

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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TFEB links autophagy to lysosomal biogenesis

21 January 2018

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Regulation of mammalian autophagy in physiology and pathophysiology.

21 January 2018

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Characterization of human glucosylsphingosine glucosyl hydrolase and comparison with glucosylceramidase

21 January 2018

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Gaucher's disease: clinical features and natural history

21 January 2018

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Plasma and metabolic abnormalities in Gaucher's disease.

21 January 2018

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Globoid Cell Leukodystrophy (Krabbe's Disease): Update

21 January 2018

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Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status

21 January 2018

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Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses

21 January 2018

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Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death

21 January 2018

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Inhibition of cytokinesis by a lipid metabolite, psychosine

21 January 2018

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Identification of a molecular target of psychosine and its role in globoid cell formation

21 January 2018

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

21 January 2018

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Effective gene therapy in an authentic model of Tay-Sachs-related diseases

21 January 2018

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Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease

21 January 2018

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Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

21 January 2018

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Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses

21 January 2018

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Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders

21 January 2018

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Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease

21 January 2018

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Gangliosides enhance apoptosis of thymocytes.

21 January 2018

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Thymic alterations in GM2 gangliosidoses model mice

21 January 2018

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Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice

21 January 2018

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21 January 2018

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Control of metabolism and signaling of simple bioactive sphingolipids: Implications in disease.

21 January 2018

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Analysis of mammalian sphingolipids by liquid chromatography tandem mass spectrometry (LC-MS/MS) and tissue imaging mass spectrometry (TIMS).

21 January 2018

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Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases

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

21 January 2018

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

21 January 2018

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Enhanced calcium release in the acute neuronopathic form of Gaucher disease

21 January 2018

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Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms

21 January 2018

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NAADP mobilizes calcium from acidic organelles through two-pore channels

21 January 2018

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Niemann-Pick disease type C

21 January 2018

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

21 January 2018

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

21 January 2018

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Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL

21 January 2018

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Lysosomal proteolysis inhibition selectively disrupts axonal transport of degradative organelles and causes an Alzheimer's-like axonal dystrophy

21 January 2018

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The unfolded protein response and proteostasis in Alzheimer disease: preferential activation of autophagy by endoplasmic reticulum stress.

21 January 2018

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Exploring the link between glucocerebrosidase mutations and parkinsonism

21 January 2018

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Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

21 January 2018

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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

21 January 2018

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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

21 January 2018

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Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/PATH.3021

1 reference

release_plwukhav3bgllaiku6ulxubfiq

25 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/plwukhav3bgllaiku6ulxubfiq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

21990005

1 reference

PubMed ID

21990005