Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia (Q38071990)

28 August 2017

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title

Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia (English)

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28 August 2017

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Robert P Erickson

1

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28 August 2017

publication date

5 January 2013

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Journal of Applied Genetics

28 August 2017

published in

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28 August 2017

volume

54

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28 August 2017

issue

2

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28 August 2017

page(s)

215-224

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Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice.

28 August 2017

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Some important considerations in the use of cyclodextrins.

21 January 2018

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Lack of efficacy of curcumin on neurodegeneration in the mouse model of Niemann-Pick C1.

21 January 2018

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Apolipoprotein E associated with astrocytic glia of the central nervous system and with nonmyelinating glia of the peripheral nervous system

21 January 2018

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Female infertility due to anovulation and defective steroidogenesis in NPC2 deficient mice

21 January 2018

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Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease

21 January 2018

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Safety of parenteral hydroxypropyl beta-cyclodextrin.

21 January 2018

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

21 January 2018

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Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport.

21 January 2018

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Thrombospondins are astrocyte-secreted proteins that promote CNS synaptogenesis

21 January 2018

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Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport

21 January 2018

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

21 January 2018

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Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

21 January 2018

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Expression of Npc1 in glial cells corrects sterility in Npc1(-/-) mice

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.

21 January 2018

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Studies on neuronal death in the mouse model of Niemann-Pick C disease

21 January 2018

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Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Expression of Niemann-Pick type C transcript in rodent cerebellum in vivo and in vitro

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

The effect of parenterally administered cyclodextrins on cholesterol levels in the rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Aberrant intracellular cholesterol transport disrupts pituitary and ovarian function

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Direct brain infusion of glial cell line-derived neurotrophic factor in Parkinson disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Cerebellar degeneration in the Niemann-Pick type C mouse

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Regional distribution of NPC1 protein in monkey brain.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Effects of cholesterol depletion by cyclodextrin on the sphingolipid microdomains of the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Biological properties of curcumin-cellular and molecular mechanisms of action

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Amelioration of enteric neuropathology in a mouse model of Niemann-Pick C by Npc1 expression in enteric glia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice

21 January 2018

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Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

21 January 2018

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Cellular cholesterol efflux mediated by cyclodextrins

21 January 2018

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Efficient neuronal gene transfer with AAV8 leads to neurotoxic levels of tau or green fluorescent proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Correction: Uncoupling of Longevity and Telomere Length in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Oligodendroglia metabolically support axons and contribute to neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Molecular, anatomical, and biochemical events associated with neurodegeneration in mice with Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Conversion of green fluorescent protein into a toxic, aggregation-prone protein by C-terminal addition of a short peptide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

CNS synaptogenesis promoted by glia-derived cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Secretion of sterols and the NPC2 protein from primary astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Identification of HE1 as the second gene of Niemann-Pick C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Neurodegeneration in Niemann-Pick type C disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Outsourcing in the brain: do neurons depend on cholesterol delivery by astrocytes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Regional and developmental expression of the Npc1 mRNA in the mouse brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Perturbed myelination process of premyelinating oligodendrocyte in Niemann-Pick type C mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Common and uncommon pathogenic cascades in lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Cognitive deficit and development of motor impairment in a mouse model of Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Embryotoxicity and teratogenicity study with gamma-cyclodextrin in rabbits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Secondary accumulation of gangliosides in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Quantitation of two pathways for cholesterol excretion from the brain in normal mice and mice with neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Cholesterol substrate pools and steroid hormone levels are normal in the face of mutational inactivation of NPC1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Molecular cloning of the mouse apolipoprotein D gene and its upregulated expression in Niemann-Pick disease type C mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13353-012-0130-0

Safety of oral cyclodextrins: effects of hydroxypropyl cyclodextrins, cyclodextrin sulfates and cationic cyclodextrins on steroid balance in rats

21 January 2018

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12 December 2020

Niemann-Pick C1 mice, a model of "juvenile Alzheimer's disease", with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration.

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12 December 2020

Niemann-Pick Type C1 deficiency in microglia does not cause neuron death in vitro

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12 December 2020

A modifier of Niemann Pick C 1 maps to mouse chromosome 19

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12 December 2020

A first therapy for Niemann-Pick C

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12 December 2020

Astrocytes synthesize and secrete the lipophilic ligand carrier apolipoprotein D

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12 December 2020

Effect of cyclodextrin on plasma lipids and cholesterol metabolism in the rat

1 reference

12 December 2020

Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside.

1 reference

12 December 2020

Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease

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12 December 2020

A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice

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12 December 2020

Time course of hepatic lipids accumulation in a strain of mice with an inherited deficiency of sphingomyelinase

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12 December 2020

A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol

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12 December 2020

Interactions of Npc1 and amyloid accumulation/deposition in the APP/PS1 mouse model of Alzheimer's

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12 December 2020

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

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12 December 2020

Hypocholesterolemic action of beta-cyclodextrin and its effects on cholesterol metabolism in pigs fed a cholesterol-enriched diet.

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12 December 2020

Bile acid and sterol solubilization in 2-hydroxypropyl-beta-cyclodextrin

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12 December 2020

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse

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12 December 2020

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

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12 December 2020

Intracellular trafficking of cholesterol monitored with a cyclodextrin

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12 December 2020

Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease

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12 December 2020

The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease

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12 December 2020

Cyclodextrins--enabling excipients: their present and future use in pharmaceuticals.

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12 December 2020

Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments

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12 December 2020

10.1007/S13353-012-0130-0

Identifiers

DOI

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28 August 2017

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