Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options (Q36592822)

15 August 2017

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title

Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options (English)

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15 August 2017

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Anthony H Futerman

2

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author name string

Yaacov Kacher

series ordinal

1

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PubMed ID

16970941

15 August 2017

language of work or name

English

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publication date

1 September 2006

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15 August 2017

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15 August 2017

580

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15 August 2017

23

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15 August 2017

5510-5517

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The complex life of simple sphingolipids

15 August 2017

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

De novo sphingolipid biosynthesis: a necessary, but dangerous, pathway

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The cell biology of lysosomal storage disorders

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Enhanced insulin sensitivity in mice lacking ganglioside GM3.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

A vital role for glycosphingolipid synthesis during development and differentiation

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Cell-specific deletion of glucosylceramide synthase in brain leads to severe neural defects after birth.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Inhibition of sphingolipid synthesis, but not degradation, alters the rate of dendrite growth in cultured hippocampal neurons.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Defects in cell growth regulation by C18:0-ceramide and longevity assurance gene 1 in human head and neck squamous cell carcinomas

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The ins and outs of sphingolipid synthesis

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Secondary accumulation of gangliosides in lysosomal storage disorders

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Glycosphingolipidoses: beyond the enzymatic defect

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Prevalence of lysosomal storage disorders

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Lysosomal storage disorders: emerging therapeutic options require early diagnosis

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Broad screening test for sphingolipid-storage diseases.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Glycosphingolipids in endocytic membrane transport

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Storage diseases: new insights into sphingolipid functions

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Distinct mechanisms of clathrin-independent endocytosis have unique sphingolipid requirements

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Gaucher disease: pathological mechanisms and modern management

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The endoplasmic reticulum and neuronal calcium signalling.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Calcium signalling: dynamics, homeostasis and remodelling

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Voltage-activated calcium channels: targets of antiepileptic drug therapy?

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Biology of ischemic cerebral cell death

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Neuronal and glial calcium signaling in Alzheimer's disease

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Regulation of apoptosis by endoplasmic reticulum pathways.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

A trip to the ER: coping with stress

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Endoplasmic reticulum stress response and neurodegeneration

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Apoptosis in the nervous system

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The unfolded protein response: a stress signaling pathway critical for health and disease.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

XBP1: a link between the unfolded protein response, lipid biosynthesis, and biogenesis of the endoplasmic reticulum.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The economics of neurite outgrowth--the addition of new membrane to growing axons

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Regulation of nerve growth mediated by inositol 1,4,5-trisphosphate receptors in growth cones

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neurons.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The pathogenesis of glycosphingolipid storage disorders

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

New directions in the treatment of Gaucher disease

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

The roles of ceramide and complex sphingolipids in neuronal cell function

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Enzyme replacement and enhancement therapies for lysosomal diseases

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Current and emerging therapies for the lysosomal storage disorders

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Gene therapy for lysosomal storage diseases.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

Gene Transfer Strategies for Correction of Lysosomal Storage Disorders

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.08.041

10.1016/J.FEBSLET.2006.08.041

21 January 2018

Identifiers

DOI

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15 August 2017

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PubMed ID

16970941