(Q39697781)

14 September 2017

0 references

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation (English)

1 reference

lipoic acid synthetase deficiency

14 September 2017

1 reference

1

1 reference

14 September 2017

David Meierhofer

5

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author name string

Franz A Zimmermann

2

1 reference

14 September 2017

Christine Fauth

3

1 reference

14 September 2017

Christa Bergheim

4

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14 September 2017

Doris Radmayr

6

1 reference

14 September 2017

Johannes Zschocke

7

1 reference

14 September 2017

Johannes Koch

8

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14 September 2017

Wolfgang Sperl

9

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14 September 2017

language of work or name

English

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publication date

1 December 2011

1 reference

American Journal of Human Genetics

14 September 2017

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14 September 2017

89

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14 September 2017

6

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14 September 2017

792-797

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Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

A novel amidotransferase required for lipoic acid cofactor assembly in Bacillus subtilis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Mitochondrial fatty acid synthesis and respiration

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Opening a new path to lipoic acid

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Lipoic acid synthesis and attachment in yeast mitochondria.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Lack of complex I is associated with oncocytic thyroid tumours

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Endogenous production of lipoic acid is essential for mouse development

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Defects of pyruvate metabolism and the Krebs cycle.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Isolation and characterization of LIP5. A lipoate biosynthetic locus of Saccharomyces cerevisiae

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Identification of the gene encoding lipoate-protein ligase A of Escherichia coli. Molecular cloning and characterization of the lplA gene and gene product

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Mechanism of action of the pyruvate dehydrogenase multienzyme complex from Escherichia coli

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Biosynthesis of lipoic acid: characterization of the lipoic acid auxotrophs Escherichia coli W1485-lip2 and JRG33-lip9.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Major Pathways of Serine and Glycine Catabolism in Various Organs of the Rat and Cock*

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Biosynthesis of lipoic acid in Arabidopsis: cloning and characterization of the cDNA for lipoic acid synthase.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234378

Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation

20 August 2018

1 reference

12 December 2020

Biochemical and Genetic Studies with Lysine + Methionine Mutants of Escherichia coli: Lipoic Acid and -Ketoglutarate Dehydrogenase-less Mutants

1 reference

12 December 2020

Properties of a newly characterized protein of the bovine kidney pyruvate dehydrogenase complex

1 reference

12 December 2020

[2Fe-2S] to [4Fe-4S] cluster conversion in Escherichia coli biotin synthase

1 reference

12 December 2020

Cardiac involvement in nonketotic hyperglycinemia

1 reference

12 December 2020

10.1016/J.AJHG.2011.11.011

Identifiers

DOI

1 reference

14 September 2017

1 reference

14 September 2017

1 reference