(Q45345342)

13 December 2017

title

A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency (English)

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holocarboxylase synthetase deficiency

13 December 2017

main subject

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author

Tatiana P. Soares da Costa

4

object named as

Tatiana P Soares da Costa

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Steven W Polyak

object named as

Steven W Polyak

7

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author name string

Lungisa Mayende

1

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13 December 2017

Rachel D Swift

2

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13 December 2017

Lisa M Bailey

3

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13 December 2017

John C Wallace

5

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13 December 2017

Grant W Booker

6

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13 December 2017

publication date

6 September 2011

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Journal of Molecular Medicine

13 December 2017

published in

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13 December 2017

volume

90

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13 December 2017

issue

1

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13 December 2017

page(s)

81-88

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Chemical and catalytic mechanisms of carboxyl transfer reactions in biotin-dependent enzymes

13 December 2017

cites work

1 reference

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The biotin enzyme family: conserved structural motifs and domain rearrangements

21 January 2018

1 reference

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Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

21 January 2018

1 reference

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Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.

21 January 2018

1 reference

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Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency

21 January 2018

1 reference

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Mutations in the holocarboxylase synthetase gene HLCS.

21 January 2018

1 reference

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Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-011-0811-X

Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency

21 January 2018

1 reference

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Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

21 January 2018

1 reference

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Inheritable biotin-treatable disorders and associated phenomena

21 January 2018

1 reference

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Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-011-0811-X

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency

21 January 2018

1 reference

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Crystal structures of biotin protein ligase from Pyrococcus horikoshii OT3 and its complexes: structural basis of biotin activation.

21 January 2018

1 reference

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Escherichia coli biotin holoenzyme synthetase/bio repressor crystal structure delineates the biotin- and DNA-binding domains

21 January 2018

1 reference

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Expression in Escherichia coli of N- and C-terminally deleted human holocarboxylase synthetase. Influence of the N-terminus on biotinylation and identification of a minimum functional protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-011-0811-X

N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-011-0811-X

Distinct amino termini of two human HCS isoforms influence biotin acceptor substrate recognition

21 January 2018

1 reference

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The N-terminal domain of human holocarboxylase synthetase facilitates biotinylation via direct interaction with the substrate protein

21 January 2018

1 reference

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Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency

21 January 2018

1 reference

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Biotin protein ligase from Saccharomyces cerevisiae. The N-terminal domain is required for complete activity

21 January 2018

1 reference

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Mutational analysis of protein substrate presentation in the post-translational attachment of biotin to biotin domains.

21 January 2018

1 reference

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1H, 13C and 15N resonance assignments of the third spectrin repeat of alpha-actinin-4.

21 January 2018

1 reference

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Evidence for distinct ligand-bound conformational states of the multifunctional Escherichia coli repressor of biotin biosynthesis.

21 January 2018

1 reference

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Nucleation of an allosteric response via ligand-induced loop folding

21 January 2018

1 reference

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Coupling of protein assembly and DNA binding: biotin repressor dimerization precedes biotin operator binding

21 January 2018

1 reference

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Holocarboxylase synthetase: correlation of protein localisation with biological function

21 January 2018

1 reference

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Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment

21 January 2018

1 reference

12 December 2020

The biotin-dependent carboxylase deficiencies

1 reference

12 December 2020

Bioavailability of biotin given orally to humans in pharmacologic doses

1 reference

12 December 2020

Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency

1 reference

12 December 2020

Functional expression, purification, and characterization of recombinant human pyruvate carboxylase

1 reference

12 December 2020

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism

1 reference

12 December 2020

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

1 reference

12 December 2020

10.1007/S00109-011-0811-X

Identifiers

DOI

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Dimensions Publication ID

13 December 2017

1011219651

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1 reference