Bifunctional peroxisomal enzyme deficiency

Known as: Pseudo-Zellweger Syndrome, Multifunctional Enzyme Deficiency, Peroxisomal bifunctional enzyme complex deficiency 
A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1955-2018
0204019552017

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19 relations
Autosomal recessive inheritanceByzanthine arch palateClaw handCongenital clubfoot
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Bifunctional peroxisomal enzyme deficiency
Autosomal recessive inheritance
Nystagmus
Micrognathism
Congenital clubfoot
Strabismus

Papers overview

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2013
2013
NAC transcription factor ORE1 and senescence-induced BIFUNCTIONAL NUCLEASE1 (BFN1) constitute a regulatory cascade in Arabidopsis.
Senescence is a highly regulated process that involves the action of a large number of transcription factors. The NAC… (More)
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2012
2012
A Framework for the Establishment of a Cnidarian Gene Regulatory Network for “Endomesoderm” Specification: The Inputs of ß-Catenin/TCF Signaling
Understanding the functional relationship between intracellular factors and extracellular signals is required for reconstructing… (More)
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2012
2012
Bifunctional PAMAM dendrimer conjugates of folic acid and methotrexate with defined ratio.
Our group previously developed a multifunctional, targeted cancer therapeutic based on Generation 5 (G5) polyamidoamine (PAMAM… (More)
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2011
2011
High-yielding aqueous 18F-labeling of peptides via Al18F chelation.
The coordination chemistry of a new pentadentate bifunctional chelator (BFC), NODA-MPAA 1, containing the 1,4,7-triazacyclononane… (More)
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2010
2010
Enhanced target gene knockdown by a bifunctional shRNA: a novel approach of RNA interference
RNA interference (RNAi) is a natural cellular regulatory process that inhibits gene expression by transcriptional, post… (More)
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2006
2006
MyD88-dependent and -independent signaling by IL-1 in neurons probed by bifunctional Toll/IL-1 receptor domain/BB-loop mimetics.
Interleukin (IL)-1beta is a pluripotent proinflammatory cytokine that signals through the type-I IL-1 receptor (IL-1RI), a member… (More)
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2004
2004
Nonreducing terminal modifications determine the chain length of polymannose O antigens of Escherichia coli and couple chain termination to polymer export via an ATP-binding cassette transporter.
The chain length of bacterial lipopolysaccharide O antigens is regulated to give a modal distribution that is critical for… (More)
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2003
2003
DNA interchain cross-links formed by acrolein and crotonaldehyde.
Acrolein and higher alpha,beta-unsaturated aldehydes are bifunctional genotoxins. The deoxyguanosine adduct of acrolein, 3-(2… (More)
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1997
1997
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.
Peroxisomal beta-oxidation proceeds from enoyl-CoA through D-3-hydroxyacyl-CoA to 3-ketoacyl-CoA by the D-3-hydroxyacyl-CoA… (More)
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1978
1978
DNA Bifunctional intercalators. 2. Fluorescence properties and DNA binding interaction of an ethidium homodimer and an acridine ethidium heterodimer.
An ethidium homodimer and acridine ethidium heterodimer have been synthesized (Gaugain, B., Barbet, J., Oberlin, R., Roques, B. P… (More)
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