Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice (Q34685652)

3 August 2017

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title

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice (English)

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3 August 2017

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4

Edward H Schuchman

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3 August 2017

Maria Dolores Ledesma

series ordinal

1

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3 August 2017

Alessandro Prinetti

series ordinal

2

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3 August 2017

Sandro Sonnino

series ordinal

3

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3 August 2017

language of work or name

English

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publication date

7 January 2011

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Journal of Neurochemistry

3 August 2017

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3 August 2017

116

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3 August 2017

5

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3 August 2017

779-788

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Lipid rafts as a membrane-organizing principle

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Synaptic vesicle docking: sphingosine regulates syntaxin1 interaction with Munc18

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Acid sphingomyelinase activity triggers microparticle release from glial cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Bioactive sphingolipids: metabolism and function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Treating lysosomal storage disorders: current practice and future prospects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Ceramide-enriched membrane domains--structure and function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

A fluorescent glycolipid-binding peptide probe traces cholesterol dependent microdomain-derived trafficking pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Anomalous surface distribution of glycosyl phosphatidyl inositol-anchored proteins in neurons lacking acid sphingomyelinase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Munc18-1 in secretion: lonely Munc joins SNARE team and takes control.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Glycolipid and ganglioside metabolism imbalances in Huntington's disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Secondary accumulation of gangliosides in lysosomal storage disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

CD44 interaction with Na+-H+ exchanger (NHE1) creates acidic microenvironments leading to hyaluronidase-2 and cathepsin B activation and breast tumor cell invasion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Calcium signalling: dynamics, homeostasis and remodelling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Regulation of death receptor signaling and apoptosis by ceramide

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Pulmonary involvement in Niemann-Pick disease: case report and literature review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Abnormalities of developing white matter in lysosomal storage diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Maturation of the axonal plasma membrane requires upregulation of sphingomyelin synthesis and formation of protein-lipid complexes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Neuronal polarity: essential role of protein-lipid complexes in axonal sorting

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Striatal ganglioside levels in the rat following kainic acid lesions: comparison with Huntington's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Erythrocyte glycolipids in Huntington's chorea

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Ganglioside changes in slow virus diseases: analyses of chimpanzee brains infected with kuru and Creutzfeldt-Jakob agents

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Brain gangliosides in dementia of the Alzheimer type.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Ectopic dendrites occur only on cortical pyramidal cells containing elevated GM2 ganglioside in alpha-mannosidosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Regional distribution of brain gangliosides in Alzheimer's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Cortical distribution of gangliosides in Alzheimer's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Creutzfeldt-jakob disease — alteration in ganglioside sphingosine in the brain of a patient

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Neurochemistry of the mucopolysaccharidoses: brain glycosaminoglycans, lipids and lysosomal enzymes in mucopolysaccharidosis type III B (alpha-N-acetylglucosaminidase deficiency)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Neurochemistry of the mucopolysaccharidoses: brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

7 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Constitutive expression of heat shock protein HSP25 in the central nervous system of the developing and adult mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Gangliosides in the brain in adult Down's syndrome and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Ganglioside composition changes in spongiform encephalopathies: analyses of 263K scrapie-infected hamster brains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Parasagittal compartmentation of adult rat Purkinje cells expressing the low-affinity nerve growth factor receptor: changes of pattern expression after a traumatic lesion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Proper axonal distribution of PrP(C) depends on cholesterol-sphingomyelin-enriched membrane domains and is developmentally regulated in hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Molecular mechanisms of ceramide-mediated CD95 clustering

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Calcium orchestrates apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

ENZYMIC HYDROLYSIS AND SYNTHESIS OF CERAMIDES

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Ceramide signaling downstream of the p75 neurotrophin receptor mediates the effects of nerve growth factor on outgrowth of cultured hippocampal neurons.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Membrane lipids, selectively diminished in Alzheimer brains, suggest synapse loss as a primary event in early-onset form (type I) and demyelination in late-onset form (type II).

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Alterations in brain gangliosides and other lipids of patients with Creutzfeldt-Jakob disease and subacute sclerosing panencephalitis (SSPE).

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Human brain gangliosides in development, aging and disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059095

Ceramide and sphingomyelin species of fibroblasts and neurons in culture

26 October 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2010.07034.X

Ganglioside alterations in the central and peripheral nervous systems of patients with Creutzfeldt-Jakob disease

21 January 2018

1 reference

12 December 2020

Secretory sphingomyelinase, a product of the acid sphingomyelinase gene, can hydrolyze atherogenic lipoproteins at neutral pH. Implications for atherosclerotic lesion development

1 reference

12 December 2020

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

1 reference

12 December 2020

Lysosomal localization of sphingomyelinase in rat liver

1 reference

12 December 2020

Mucopolysaccharidosis types IH, IS, II, and IIIA: glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues

1 reference

12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

12 December 2020

Peripheral neuropathy in type A Niemann-Pick disease. A morphological study

1 reference

12 December 2020

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders

1 reference

12 December 2020

10.1111/J.1471-4159.2010.07034.X

Identifiers

DOI

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3 August 2017

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3 August 2017

1 reference