(Q24534070)

English

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

3-methylcrotonyl-CoA carboxylase deficiency

0 references

object named as

Cecilia Giunta

5

0 references

Matthias R Baumgartner

object named as

Matthias R Baumgartner

1

0 references

author name string

M Fernanda Dantas

2

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Terttu Suormala

3

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Shlomo Almashanu

4

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Dolores Friebel

6

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Boris Gebhardt

7

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Brian Fowler

8

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Georg F Hoffmann

9

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

E Regula Baumgartner

10

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

David Valle

11

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

language of work or name

0 references

publication date

9 September 2004

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

75

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

790-800

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

24 March 2017

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

24 March 2017

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

24 March 2017

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

24 March 2017

Movement of the biotin carboxylase B-domain as a result of ATP binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

24 March 2017

Kinetic characterization of mutations found in propionic acidemia and methylcrotonylglycinuria: evidence for cooperativity in biotin carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

24 March 2017

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

24 March 2017

Allelic variations in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

Allelic variation in gene expression is common in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

Structure, function and regulation of pyruvate carboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

Evolutionary conservation among biotin enzymes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

Functional inactivation of genes by dominant negative mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

27 September 2017

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

30 May 2018

Isolated biotin‐resistant deficiency of 3‐methylcrotonyl‐CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

30 May 2018

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

29 November 2018

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

29 November 2018

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

29 November 2018

Allelic Variation in Human Gene Expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

29 November 2018

Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

29 November 2018

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

29 November 2018

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182108

29 November 2018

Isolation of 3-methylcrotonyl-coenzyme A carboxylase from bovine kidney

1 reference

https://pubmed.ncbi.nlm.nih.gov/15359379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

1 reference

https://pubmed.ncbi.nlm.nih.gov/15359379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15359379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/15359379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15359379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

ResearchGate publication ID

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