(Q73614076)

English

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency

scientific article published on 01 August 1997

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

E Naito

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M Ito

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

I Yokota

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Saijo

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J Matsuda

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H Osaka

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Kimura

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Y Kuroda

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 August 1997

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

20

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

539-548

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266390%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005305614374

0 references

High-performance liquid chromatographic determination of total thiamine in human plasma for oral bioavailability studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The relationships between transketolase, yeast pyruvate decarboxylase and pyruvate dehydrogenase of the pyruvate dehydrogenase complex.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh's disease).

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked Leigh's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three genes for enzymes of the pyruvate dehydrogenase complex map to human chromosomes 3, 7, and X.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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