Mutations causing Gaucher disease (Q28250128)

Premature translation termination mediates triosephosphate isomerase mRNA degradation

Europe PubMed Central

title

Mutations causing Gaucher disease (English)

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M Horowitz

1

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A Zimran

series ordinal

2

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language of work or name

English

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publication date

1994

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published in

Human Mutation

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volume

3

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issue

1

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page(s)

1-11

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cites work

1 reference

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

21 January 2018

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Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

21 January 2018

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7 January 2021

Mechanism of activation of glucocerebrosidase by CO-β-glucosidase (glucosidase activator protein)

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7 January 2021

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Gaucher disease: new molecular approaches to diagnosis and treatment

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7 January 2021

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

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7 January 2021

Identification of six new Gaucher disease mutations

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7 January 2021

Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease

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7 January 2021

Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase

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7 January 2021

Prevalent and rare mutations among Gaucher patients

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7 January 2021

Three unique base pair changes in a family with Gaucher disease

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7 January 2021

Activator proteins and topology of lysosomal sphingolipid catabolism.

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7 January 2021

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats

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7 January 2021

Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system

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7 January 2021

A Case of Nonneurologic Gaucherʼs Disease that Biochemically Resembles the Neurologic Types

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7 January 2021

Oculomotor apraxia: the presenting sign of Gaucher disease

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7 January 2021

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

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7 January 2021

Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro

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7 January 2021

Sequence of two alleles responsible for Gaucher disease

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7 January 2021

The human glucocerebrosidase gene and pseudogene: structure and evolution

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Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

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7 January 2021

Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant

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7 January 2021

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

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7 January 2021

Genetic diagnosis of Gaucher's disease

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7 January 2021

Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator

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7 January 2021

Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus

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7 January 2021

A novel splicing abnormality in a Japanese patient with Gaucher's disease

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7 January 2021

Structural analysis of the human glucocerebrosidase genes.

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7 January 2021

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

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7 January 2021

Gaudier patients with oculomotor abnormalities do not have a unique genotype

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7 January 2021

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021