(Q48749318)

15 February 2018

title

The GM2-gangliosidoses and the elucidation of the beta-hexosaminidase system (English)

1 reference

15 February 2018

author name string

Sandhoff K

series ordinal

1

1 reference

15 February 2018

publication date

1 January 2001

1 reference

15 February 2018

published in

Advances in Genetics

1 reference

15 February 2018

volume

44

1 reference

15 February 2018

page(s)

67-91

1 reference

15 February 2018

Enzyme-linked Immunosorbent Assay for the Ganglioside GM2-Activator Protein. Screening of Normal Human Tissues and Body Fluids, of Tissues of GM2Gangliosidosis, and for Its Subcellular Localization

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Activating Proteins for Ganglioside GM2Degradation by β-Hexosaminidase Isoenzymes in Tissue Extracts from Different Species

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Molecular Forms of GM2-Activator Protein. A Study on its Biosynthesis in Human Skin Fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Mapping of the gene coding for the human GM2 activator protein to chromosome 5

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Purification, Biochemical and Immunological Characterisation of Hexosaminidase A from Variant AB of Infantile GM2 Gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Complexing of Glycolipids and Their Transfer between Membranes by the Activator Protein for Degradation of Lysosomal Ganglioside GM2

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

GM2-gangliosidosis, AB variant: clinico-pathological study of a case

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

[On the spreading of the amaurotic idiocy processes in the central nervous system at various ages and on features of a late form with regard to pigment atrophy]

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Isolation of beta-N-acetylhexosaminidase, beta-N-acetylglucosaminidase, and beta-N-acetylgalactosaminidase from calf brain

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Enzymatische Untersuchungen im Blut von Überträgern einer Variante der Tay-Sachsschen Erkrankung (Variate O)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Lysosomal enzyme precursors in human fibroblasts. Activation of cathepsin D precursor in vitro and activity of beta-hexosaminidase A precursor towards ganglioside GM2.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

HISTOCHEMICAL DEMONSTRATION OF N-ACETYL-BETA-GLUCOSAMINIDASE EMPLOYING NAPHTHOL AS-BI N-ACETYL-BETA -GLUCOSAMINIDE AS SUBSTRATE

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal human brain and brains of three types of GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

N-acetylhexosaminidase activities in Tay-Sachs disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Progressive accumulation of toxic metabolite in a genetic leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

On a biochemically special form of infantile amaturotic idiocy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

THE QUANTITATIVE DETERMINATION OF GANGLIOSIDES AND THEIR NEURAMINIC ACID-FREE DERIVATIVES IN INFANTILE, JUVENILE AND FORMS OF AMAUROTIC IDIOCY AND AN UNUSUAL LATE INFANTILE BIOCHEMICAL FORM

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Over-expression of a functionally active human GM2-activator protein in Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

A new variant of Type-AB GM2-gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Photoaffinity labeling of human lysosomal beta-hexosaminidase B. Identification of Glu-355 at the substrate binding site

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Identification of domains in human beta-hexosaminidase that determine substrate specificity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

N-Acetyl-β-glucosaminidases in human spleen

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Separation and properties of β-galactosidase, β-glucosidase, β-glucuronidase and N-acetyl-β-glucosaminidase from rat kidney

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

ON ARRESTED CEREBRAL DEVELOPMENT, WITH SPECIAL REFERENCE TO ITS CORTICAL PATHOLOGY.1

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

The Biochemical Basis of Gangliosidoses

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

[ON THE ENZYMATIC BREAKDOWN OF N-ACETYLNEURAMINOACID-FREE GANGLIOSIDE RESIDUES (CEREMIDE OLIGOSACCHARIDES)]

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

The hydrolysis of Tay-Sachs ganglioside (TSG) by human N-acetyl-beta-D-hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Enzyme alterations and lipid storage in three variants of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Specificity of human liver hexosaminidases A and B against glycosphingolipids GM2 and GA2. Purification of the enzymes by affinity chromatography employing specific elution

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Hexosaminidase-A and hexosaminidase-B: studies in Tay-Sachs' and Sandhoff's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

The chemical structure of normal human brain and Tay-Sachs gangliosides

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Membranous cytoplasmic granules in infantile amaurotic idiocy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

Genetic complementation after fusion of Tay-Sachs and Sandhoff cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944072-7

7 January 2021

10.1016/S0065-2660(01)44072-7

Identifiers

DOI

1 reference

15 February 2018

1 reference

15 February 2018