(Q36245601)

13 August 2017

1 reference

title

Mutations in the holocarboxylase synthetase gene HLCS. (English)

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13 August 2017

Yoichi Suzuki

1

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13 August 2017

Xue Yang

2

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13 August 2017

Yoko Aoki

3

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13 August 2017

Shigeo Kure

4

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13 August 2017

Yoichi Matsubara

5

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13 August 2017

publication date

1 October 2005

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13 August 2017

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13 August 2017

volume

26

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13 August 2017

issue

4

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13 August 2017

page(s)

285-290

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Identification of holocarboxylase synthetase (HCS) proteins in human placenta

13 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

Exposure to UV light causes increased biotinylation of histones in Jurkat cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

A new case of holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Holocarboxylase synthetase deficiency: early diagnosis and management of a new case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Late-onset holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

The DNA sequence of human chromosome 21

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Biotin dependency due to a defect in biotin transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Clinical and biochemical findings on a child with multiple biotin‐responsive carboxylase deficiencies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Biotin in metabolism and its relationship to human disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Biotinylation of histones in human cells. Effects of cell proliferation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Holocarboxylase synthetase deficiency: report of a case with onset in late infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20204

7 January 2021

Identifiers

DOI

10.1002/HUMU.20204

1 reference

13 August 2017

1 reference