(Q38115769)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23785136%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis (English)

1 reference

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3 March 2020

0 references

Konrad Sandhoff

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23785136%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Klaus Harzer

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23785136%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

1 June 2013

1 reference

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3 March 2020

published in

Journal of Neuroscience

1 reference

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3 March 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23785136%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

25

1 reference

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3 March 2020

page(s)

10195-10208

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Sphingolipid activator proteins are required for epidermal permeability barrier formation

3 March 2020

cites work

1 reference

12 December 2020

Interaction of the GM2-activator protein with phospholipid-ganglioside bilayer membranes and with monolayers at the air-water interface

1 reference

12 December 2020

Intracellular distribution of a biotin-labeled ganglioside, GM1, by immunoelectron microscopy after endocytosis in fibroblasts

1 reference

12 December 2020

A vital role for glycosphingolipid synthesis during development and differentiation

1 reference

12 December 2020

Degradation of membrane-bound ganglioside GM1. Stimulation by bis(monoacylglycero)phosphate and the activator proteins SAP-B and GM2-AP.

1 reference

12 December 2020

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

1 reference

12 December 2020

Interfacial regulation of acid ceramidase activity. Stimulation of ceramide degradation by lysosomal lipids and sphingolipid activator proteins

1 reference

12 December 2020

Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures.

1 reference

12 December 2020

Biomolecule function: no reliable prediction from cell culture

1 reference

12 December 2020

Degradation of membrane-bound ganglioside GM2 by beta -hexosaminidase A. Stimulation by GM2 activator protein and lysosomal lipids

1 reference

12 December 2020

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology

1 reference

12 December 2020

b-series Ganglioside deficiency exhibits no definite changes in the neurogenesis and the sensitivity to Fas-mediated apoptosis but impairs regeneration of the lesioned hypoglossal nerve

1 reference

12 December 2020

Cardiac involvement in infantile Sandhoff disease

1 reference

12 December 2020

Combinatorial ganglioside biosynthesis

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12 December 2020

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

1 reference

12 December 2020

Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease

1 reference

12 December 2020

The X-ray Crystal Structure of Human β-Hexosaminidase B Provides New Insights into Sandhoff Disease

1 reference

12 December 2020

Biosynthesis and degradation of mammalian glycosphingolipids

1 reference

12 December 2020

Glycosphingolipid functions: insights from engineered mouse models

1 reference

12 December 2020

Structural analysis of lipid complexes of GM2-activator protein

1 reference

12 December 2020

Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.

1 reference

12 December 2020

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

12 December 2020

On a biochemically special form of infantile amaturotic idiocy

1 reference

12 December 2020

Studies in Tay-Sachs disease. IV. Membranous cytoplasmic bodies.

1 reference

12 December 2020

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

1 reference

12 December 2020

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

1 reference

12 December 2020

Photoaffinity labelling of the human GM2-activator protein. Mechanistic insight into ganglioside GM2 degradation.

1 reference

12 December 2020

Expression of the GM2-activator protein in the methylotrophic yeast Pichia pastoris, purification, isotopic labeling, and biophysical characterization

1 reference

12 December 2020

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

1 reference

12 December 2020

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

1 reference

12 December 2020

Immune pathogenesis of multiple sclerosis

1 reference

12 December 2020

Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

1 reference

12 December 2020

Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.

1 reference

12 December 2020

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids

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12 December 2020

Gene therapy of storage disorders by retroviral and lentiviral vectors

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12 December 2020

Substrate reduction therapy in the infantile form of Tay-Sachs disease

1 reference

12 December 2020

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Sphingolipid metabolism diseases

1 reference

12 December 2020

Integrity and barrier function of the epidermis critically depend on glucosylceramide synthesis.

1 reference

12 December 2020

Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

1 reference

12 December 2020

Serial 1H-MRS in GM2 gangliosidoses.

1 reference

12 December 2020

Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.

1 reference

12 December 2020

Biochemical Basis of Late-Onset Neurolipidoses

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12 December 2020

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

1 reference

12 December 2020

Neuronal ceroid lipofuscinoses

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Brain gangliosides in axon-myelin stability and axon regeneration.

1 reference

12 December 2020

Lysosomal degradation of membrane lipids

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12 December 2020

Substrate deprivation therapy in juvenile Sandhoff disease.

1 reference

12 December 2020

Miglustat therapy in juvenile Sandhoff disease.

1 reference

12 December 2020

Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

1 reference

12 December 2020

Role of endosomal membrane lipids and NPC2 in cholesterol transfer and membrane fusion

1 reference

12 December 2020

Multi-system disorders of glycosphingolipid and ganglioside metabolism

1 reference

12 December 2020

Molecular mechanism of multivesicular body biogenesis by ESCRT complexes

1 reference

12 December 2020

Common and uncommon pathogenic cascades in lysosomal storage diseases

1 reference

12 December 2020

Hepatic glycosphingolipid deficiency and liver function in mice

1 reference

12 December 2020

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)

1 reference

12 December 2020

AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival

1 reference

12 December 2020

Biological function of the cellular lipid BMP-BMP as a key activator for cholesterol sorting and membrane digestion

1 reference

12 December 2020

Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids

1 reference

12 December 2020

Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation.

1 reference

12 December 2020

Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis

1 reference

12 December 2020

Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis

1 reference

12 December 2020

Structures, biosynthesis, and functions of gangliosides--an overview

1 reference

12 December 2020

Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease

1 reference

12 December 2020

Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis.

1 reference

12 December 2020

Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide.

1 reference

12 December 2020

Autophagy proteins in macroendocytic engulfment

1 reference

12 December 2020

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

1 reference

12 December 2020

Treatment options for lysosomal storage disorders: developing insights

1 reference

12 December 2020

Characterization of inducible models of Tay-Sachs and related disease

1 reference

12 December 2020

Sensitivity to lysosome-dependent cell death is directly regulated by lysosomal cholesterol content

1 reference

12 December 2020

My journey into the world of sphingolipids and sphingolipidoses

1 reference

12 December 2020

Specific interaction between Lex and Lex determinants. A possible basis for cell recognition in preimplantation embryos and in embryonal carcinoma cells.

1 reference

12 December 2020

Extracellular matrix, cell skeletons, and embryonic development

1 reference

12 December 2020

Sphingolipids—Their Metabolic Pathways and the Pathobiochemistry of Neurodegenerative Diseases

1 reference

12 December 2020

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

1 reference

12 December 2020

Characterization of a nonspecific activator protein for the enzymatic hydrolysis of glycolipids

1 reference

12 December 2020

The Biochemistry of Sphingolipid Storage Diseases

1 reference

12 December 2020

Infantile amaurotic idiocy and related forms as ganglioside storage diseases

1 reference

12 December 2020

Generalized gangliosidosis: beta-galactosidase deficiency.

1 reference

12 December 2020

A cerebrosidesulfatase from swine kidney

1 reference

12 December 2020

A particle-bound sialyl lactosidoceramide splitting mammalian sialidase

1 reference

12 December 2020

Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy

1 reference

12 December 2020

Stage-specific embryonic antigens (SSEA-3 and -4) are epitopes of a unique globo-series ganglioside isolated from human teratocarcinoma cells

1 reference

12 December 2020

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity

1 reference

12 December 2020

Activator protein for the degradation of globotriaosylceramide by human alpha-galactosidase

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates

1 reference

12 December 2020

Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases

1 reference

12 December 2020

Progressive accumulation of toxic metabolite in a genetic leukodystrophy

1 reference

12 December 2020

The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease

1 reference

12 December 2020

[Glycolipids of the cell surface--biochemistry of their decomposition].

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease

1 reference

12 December 2020

Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease

1 reference

12 December 2020

Low molecular weight proteins in secondary lysosomes as activators of different sphingolipid hydrolases

1 reference

12 December 2020

Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis

1 reference

12 December 2020

Accumulation of sphingolipids in SAP-precursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor

1 reference

12 December 2020

Lysosomal degradation on vesicular membrane surfaces. Enhanced glucosylceramide degradation by lysosomal anionic lipids and activators.

1 reference

12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

12 December 2020

10.1523/JNEUROSCI.0822-13.2013

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23785136%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23785136%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23785136%20AND%20SRC:MED&resulttype=core&format=json