Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes. (Q35196811)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1909090%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

title

Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes (English)

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20 September 2019

1 reference

M E Grace

1

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20 September 2019

A Berg

2

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20 September 2019

G S He

3

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20 September 2019

L Goldberg

4

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20 September 2019

M Horowitz

5

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20 September 2019

G A Grabowski

6

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20 September 2019

language of work or name

English

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publication date

1 September 1991

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American Journal of Human Genetics

20 September 2019

published in

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20 September 2019

volume

49

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20 September 2019

issue

3

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20 September 2019

page(s)

646-655

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Gaucher disease--Norrbottnian type. I. General clinical description

20 September 2019

cites work

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Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

28 July 2018

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cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

28 July 2018

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Supercoil sequencing: a fast and simple method for sequencing plasmid DNA

28 July 2018

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In situ radiation-inactivation size of fibroblast membrane-bound acid beta-glucosidase in Gaucher type 1, type 2 and type 3 disease

28 July 2018

1 reference

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Biosynthesis of the lysosomal enzyme glucocerebrosidase

28 July 2018

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Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients

28 July 2018

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Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry

28 July 2018

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Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting

28 July 2018

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Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease

28 July 2018

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Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site

28 July 2018

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Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

28 July 2018

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Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient

28 July 2018

1 reference

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The rapid generation of oligonucleotide-directed mutations at high frequency using phosphorothioate-modified DNA.

28 July 2018

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The use of phosphorothioate-modified DNA in restriction enzyme reactions to prepare nicked DNA.

28 July 2018

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The human glucocerebrosidase gene and pseudogene: structure and evolution

28 July 2018

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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

28 July 2018

1 reference

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Prediction of severity of Gaucher's disease by identification of mutations at DNA level

28 July 2018

1 reference

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Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683149

In vitro detergent activation of lysosomal acid beta-glucosidase in the spleen of normal and type 1 Gaucher patients is not accompanied by change in aggregation state

28 July 2018

1 reference

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Expression of functional human acid beta-glucosidase in COS-1 and Spodoptera frugiperda cells

28 July 2018

1 reference

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Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts

28 July 2018

1 reference

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Characterization of mutations in Gaucher patients by cDNA cloning

28 July 2018

1 reference

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Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene

28 July 2018

1 reference

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Complex alleles of the acid beta-glucosidase gene in Gaucher disease

28 July 2018

1 reference

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Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations

28 July 2018

1 reference

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Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene

28 July 2018

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Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

28 July 2018

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A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

28 July 2018

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Hazards and their exploitation in the applications of molecular biology to structure-function relationships

28 July 2018

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Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease

28 July 2018

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Sequence of two alleles responsible for Gaucher disease

28 July 2018

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Characterization of human glucocerebrosidase from different mutant alleles

28 July 2018

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DNA sequencing with chain-terminating inhibitors

28 July 2018

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beta-Glucoside hydrolase activity of normal and glucosylceramidotic cultured human skin fibroblasts

28 July 2018

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THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE

28 July 2018

1 reference

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Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study.

26 September 2018

1 reference

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Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683149

Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations

26 September 2018

1 reference

12 December 2020

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

1 reference

12 December 2020

Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity

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12 December 2020

A study of acid beta-glucosidase in a patient with Gaucher disease and leukemia

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12 December 2020

Modification of subunit interaction in membrane-bound acid beta-glucosidase from Gaucher disease

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12 December 2020

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

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12 December 2020

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

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12 December 2020

Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites

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12 December 2020

Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency

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12 December 2020

Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites

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12 December 2020

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1909090%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

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