Human alpha-galactosidase A: high plasma activity expressed by the -30G--&gt;A allele (Q73764580)

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6 November 2019

title

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele (English)

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6 November 2019

2

R J Desnick

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6 November 2019

author name string

T F Fitzmaurice

series ordinal

1

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6 November 2019

D F Bishop

series ordinal

3

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6 November 2019

publication date

1 September 1997

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Journal of Inherited Metabolic Disease

6 November 2019

published in

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6 November 2019

volume

20

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6 November 2019

page(s)

643-657

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6 November 2019

issue

5

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https://scigraph.springernature.com/pub.10.1023/a:1005366224351

6 November 2019

exact match

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cites work

HTLV-1 transactivator induces interleukin-2 receptor expression through an NF-kappa B-like factor.

1 reference

12 December 2020

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

1 reference

12 December 2020

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

1 reference

12 December 2020

Involvement of a NF-kappa B-like transcription factor in the activation of the interleukin-6 gene by inflammatory lymphokines

1 reference

12 December 2020

The macrophage and B cell-specific transcription factor PU.1 is related to the ets oncogene

1 reference

12 December 2020

Transcriptional repression of the insulin-like growth factor I receptor (IGF-I-R) gene by the tumor suppressor WT1 involves binding to sequences both upstream and downstream of the IGF-I-R gene transcription start site

1 reference

12 December 2020

Characterization of SAP-1, a protein recruited by serum response factor to the c-fos serum response element

1 reference

12 December 2020

The c-Ets oncoprotein activates the stromelysin promoter through the same elements as several non-nuclear oncoproteins

1 reference

12 December 2020

Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms

1 reference

12 December 2020

High-affinity DNA-protein interactions of the cellular ETS1 protein: the determination of the ETS binding motif

1 reference

12 December 2020

NF-kappa B binds within a region required for B-cell-specific expression of major histocompatibility complex class II gene E alpha d

1 reference

12 December 2020

Binding of a nuclear factor to a regulatory sequence in the promoter of the mouse H-2Kb class I major histocompatibility gene

1 reference

12 December 2020

Sequence-specific DNA binding of the proto-oncoprotein ets-1 defines a transcriptional activator sequence within the long terminal repeat of the Moloney murine sarcoma virus

1 reference

12 December 2020

An inducible 50-kilodalton NF kappa B-like protein and a constitutive protein both bind the acute-phase response element of the angiotensinogen gene

1 reference

12 December 2020

Influences of mRNA secondary structure on initiation by eukaryotic ribosomes

1 reference

12 December 2020

Circumstances and mechanisms of inhibition of translation by secondary structure in eucaryotic mRNAs

1 reference

12 December 2020

Multiple nuclear factors interact with the immunoglobulin enhancer sequences

1 reference

12 December 2020

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

1 reference

12 December 2020

mRNA structures influencing translation in the yeast Saccharomyces cerevisiae

1 reference

12 December 2020

The solution structure of the human ETS1-DNA complex reveals a novel mode of binding and true side chain intercalation

1 reference

12 December 2020

Regulation of rat ornithine decarboxylase mRNA translation by its 5'-untranslated region

1 reference

12 December 2020

DNA binding of purified transcription factor NF-kappa B. Affinity, specificity, Zn2+ dependence, and differential half-site recognition

1 reference

12 December 2020

Apolipoprotein(a) gene transcription is regulated by liver-enriched trans-acting factor hepatocyte nuclear factor 1 alpha.

1 reference

12 December 2020

Insertion mutagenesis to increase secondary structure within the 5' noncoding region of a eukaryotic mRNA reduces translational efficiency.

1 reference

12 December 2020

Statistical considerations in the estimation of enzyme kinetic parameters by the direct linear plot and other methods

1 reference

12 December 2020

A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding

1 reference

12 December 2020

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

12 December 2020

ERF: an ETS domain protein with strong transcriptional repressor activity, can suppress ets-associated tumorigenesis and is regulated by phosphorylation during cell cycle and mitogenic stimulation

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

An activator stimulating the enzymic hydrolysis of sphingoglycolipids

1 reference

12 December 2020

On finding all suboptimal foldings of an RNA molecule

1 reference

12 December 2020

A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.

1 reference

12 December 2020

Pi 1 binding sites are negative regulators of bcl-2 expression in pre-B cells

1 reference

12 December 2020

Characterization of a hepatoma mRNA transcribed from a third promoter of a 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase-encoding gene and controlled by ets oncogene-related products

1 reference

12 December 2020

High-efficiency transformation of mammalian cells by plasmid DNA

1 reference

12 December 2020

Binding sites in mammalian genes and viral gene regulatory regions recognized by methylated DNA-binding protein

1 reference

12 December 2020

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

1 reference

12 December 2020

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

1 reference

12 December 2020

The involvement of NF-kappa B in beta-interferon gene regulation reveals its role as widely inducible mediator of signal transduction

1 reference

12 December 2020

Sequence-specific interaction of the Ets1 protein with the long terminal repeat of the human T-lymphotropic virus type I.

1 reference

12 December 2020

Lysosomal enzyme activities among Chinese: leukocyte alpha-galactosidase and beta-galactosidase.

1 reference

12 December 2020

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

1 reference

12 December 2020

Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex

1 reference

12 December 2020

Cooperative binding of Ets-1 and core binding factor to DNA

1 reference

12 December 2020

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

12 December 2020

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

1 reference

12 December 2020

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

12 December 2020

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

1 reference

12 December 2020