Search Results - "Pyruvate Dehydrogenase Complex: genetics"

E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development.

Authors: Di Michele, Michela Attina, Aurore Roux, Pierre-François et al.

Source: Nature Communications, 16 (1), 67 (2025-01-02)

Subject Terms: Pyruvic Acid, Pyruvate Dehydrogenase Complex, RNA, Transfer, Dihydrolipoyllysine-Residue Acetyltransferase, Basic-Leucine Zipper Transcription Factors, Uridine, ELP3 protein, human, Nerve Tissue Proteins, Histone Acetyltransferases, Animals, Mice, Humans, Pyruvate Dehydrogenase Complex/metabolism, Pyruvate Dehydrogenase Complex/genetics, Leigh Disease/metabolism, Leigh Disease/genetics, Neurons/metabolism, Transfer/metabolism, Transfer/genetics, Protein Biosynthesis, Gene Expression Regulation, Developmental, Dihydrolipoyllysine-Residue Acetyltransferase/metabolism, Dihydrolipoyllysine-Residue Acetyltransferase/genetics, Basic-Leucine Zipper Transcription Factors/metabolism, Basic-Leucine Zipper Transcription Factors/genetics, Knockout, Inbred C57BL

Relation: https://www.nature.com/articles/s41467-024-55444-y.pdf; urn:issn:2041-1723; https://orbi.uliege.be/handle/2268/328564; info:hdl:2268/328564; https://orbi.uliege.be/bitstream/2268/328564/1/diMichele%20et%20al2024.pdf; info:pmid:39747033

Availability: https://orbi.uliege.be/handle/2268/328564
https://orbi.uliege.be/bitstream/2268/328564/1/diMichele%20et%20al2024.pdf
https://doi.org/10.1038/s41467-024-55444-y

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Authors: Grafakou, O. Oexle, K. van den Heuvel, L. et al.

Subject Terms: Child, Preschool, Dihydrolipoamide Dehydrogenase/deficiency, Dihydrolipoamide Dehydrogenase/genetics, Fibroblasts/enzymology, Heterozygote, Humans, Leigh Disease/genetics, Male, Muscle, Skeletal/enzymology, Mutation, Missense, Pyruvate Dehydrogenase Complex/genetics, RNA Splice Sites

Relation: European Journal of Pediatrics; https://iris.unil.ch/handle/iris/33711; serval:BIB_29678; 000185228800012

Availability: https://iris.unil.ch/handle/iris/33711
https://doi.org/10.1007/s00431-003-1282-z

Mutations in the lipoyltransferaseLIPT1gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Authors: Tort, F. Ferrer-Cortes, X. Thio, M. et al.

Contributors: Tort, F. Ferrer-Cortes, X. Thio, M. et al.

Source: HUMAN MOLECULAR GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Subject Terms: 0301 basic medicine, [SDV]Life Sciences [q-bio], Cells, Lipoylation, Pyruvate Dehydrogenase Complex/genetics, Mutation, Missense, Pyruvate Dehydrogenase Complex, Oxo-Acid-Lyases/*genetics, Lipoylation/*genetics, Cercopithecus aethiops, 03 medical and health sciences, Chlorocebus aethiops, Animals, Humans, Ketoglutarate Dehydrogenase Complex, Thioctic Acid/metabolism, Mitochondria/genetics/metabolism, Amino Acid Metabolism, Inborn Errors, Ketoglutaric Acids/metabolism, Cells, Cultured, 0303 health sciences, Cultured, Energy Metabolism/genetics, Thioctic Acid, Lactic/genetics/mortality, Infant, Newborn, Infant, Acyltransferases/*genetics, Oxo-Acid-Lyases, Newborn, Mitochondria, 3. Good health, Ketoglutarate Dehydrogenase Complex/deficiency/genetics, Amino Acid Metabolism, [SDV] Life Sciences [q-bio], Mutation, COS Cells, Ketoglutaric Acids, Acidosis, Lactic, Female, Missense, Acidosis, Energy Metabolism, Inborn Errors/genetics, Acyltransferases

Access URL: https://pubmed.ncbi.nlm.nih.gov/24256811
https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5217
https://europepmc.org/abstract/MED/24256811
https://academic.oup.com/hmg/article/23/7/1907/655536
https://www.ncbi.nlm.nih.gov/pubmed/24256811
https://paperity.org/p/40295221/mutations-in-the-lipoyltransferase-lipt1-gene-cause-a-fatal-disease-associated-with-a

The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

Authors: Gabut, M. Mine, M. Marsac, C. et al.

Contributors: Gabut, M. Mine, M. Marsac, C. et al.

Source: Molecular and Cellular Biology. 25:3286-3294

Subject Terms: 0301 basic medicine, Cultured Exons/genetics Fibroblasts/metabolism Humans Introns/genetics Leigh Disease/*genetics/metabolism Mental Retardation/genetics/metabolism Mutation/genetics Nuclear Proteins/antagonists & inhibitors/genetics/*metabolism Pyruvate Dehydrogenase (Lipoamide)/*genetics Pyruvate Dehydrogenase Complex/genetics Pyruvate Dehydrogenase Complex Deficiency Disease/genetics/metabolism RNA Interference RNA Splice Sites/genetics/*physiology RNA, Pyruvate Dehydrogenase Complex, 03 medical and health sciences, Intellectual Disability, Messenger/metabolism RNA, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Pyruvate Dehydrogenase (Lipoamide), RNA, Messenger, RNA, Small Interfering, Pyruvate Dehydrogenase Complex Deficiency Disease, Cells, Cultured, 0303 health sciences, Nuclear Proteins, RNA-Binding Proteins, Exons, Fibroblasts, Introns, 3. Good health, Alternative Splicing, Lactic/*genetics/metabolism Alternative Splicing/genetics/*physiology Cells, Ribonucleoproteins, Mutation, Acidosis, Lactic, RNA Interference, RNA Splice Sites, Small Interfering/genetics/pharmacology RNA-Binding Proteins/antagonists & inhibitors/genetics/metabolism Ribonucleoproteins/antagonists & inhibitors/genetics/*metabolism Syndrome, Leigh Disease, Acidosis

Access URL: https://mcb.asm.org/content/mcb/25/8/3286.full.pdf
https://pubmed.ncbi.nlm.nih.gov/15798212
https://europepmc.org/articles/PMC1069624/
https://www.ncbi.nlm.nih.gov/pubmed/15798212
https://www.ncbi.nlm.nih.gov/pmc/articles/1069624/
https://journals.asm.org/doi/pdf/10.1128/MCB.25.8.3286-3294.2005
https://pubmed.ncbi.nlm.nih.gov/15798212/

Analysis of Exonic Mutations Leading to Exon Skipping in Patients with Pyruvate Dehydrogenase E1α Deficiency

Authors: Cardozo, Alessandra K De Meirleir, Linda Liebaers, Ingeborg et al.

Contributors: Cardozo, Alessandra K De Meirleir, Linda Liebaers, Ingeborg et al.

Source: Pediatric Research. 48:748-753

Subject Terms: 0301 basic medicine, X Chromosome, RNA Splicing, Recombinant Fusion Proteins, DNA Mutational Analysis, Pyruvate Dehydrogenase Complex, Recombinant Fusion Proteins -- genetics, Transfection, Cercopithecus aethiops, 03 medical and health sciences, RNA Splicing -- genetics, Chlorocebus aethiops, Pyruvate Dehydrogenase Complex Deficiency Disease -- enzymology, RNA Precursors, Site-Directed, Animals, Humans, Exons -- genetics, Pyruvate Dehydrogenase (Lipoamide), Pyruvate Dehydrogenase Complex Deficiency Disease, 0303 health sciences, PDH E1 alpha gene, Reverse Transcriptase Polymerase Chain Reaction, Pyruvate Dehydrogenase Complex Deficiency Disease -- genetics, Pyruvate Dehydrogenase Complex -- genetics, Spliceosomes -- metabolism, Exons, Sciences bio-médicales et agricoles, RNA Precursors -- genetics, X Chromosome -- genetics, Amino Acid Substitution, Mutagenesis, COS Cells, Mutagenesis, Site-Directed, Spliceosomes, Nucleic Acid Conformation, RNA Precursors -- chemistry

File Description: No full-text files

Access URL: https://www.nature.com/articles/pr2000269.pdf
https://pubmed.ncbi.nlm.nih.gov/11102541
https://www.nature.com/articles/pr2000269
https://researchportal.vub.be/en/publications/analysis-of-exonic-mutations-leading-to-exon-skipping-in-patients
https://www.ncbi.nlm.nih.gov/pubmed/11102541
https://www.nature.com/articles/pr2000269.pdf
https://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51355/Details
https://hdl.handle.net/20.500.14017/d9f7b73a-1be5-46ed-a1c6-0babbb100a3b
https://biblio.vub.ac.be/vubir/analysis-of-exonic-mutations-leading-to-exon-skipping-in-patients-with-pyruvate-dehydrogenase-e1-alpha-deficiency(d9f7b73a-1be5-46ed-a1c6-0babbb100a3b).html

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

Authors: Lissens, Willy De Meirleir, Linda Seneca, Sara et al.

Contributors: Lissens, Willy De Meirleir, Linda Seneca, Sara et al.

Source: Human Mutation, 7, pp. 46-51
Human Mutation, 7, 1, pp. 46-51

Subject Terms: Male, X Chromosome, Transcription, Genetic, Energy metabolism in human skeletal muscle, Pédiatrie, Molecular Sequence Data, Pyruvate Dehydrogenase Complex/genetics, Pyruvate Dehydrogenase Complex, Pediatrics, Sciences de la santé humaine, Polymerase Chain Reaction, Neurologie, PHDc, Humans, Point Mutation, Pyruvate Dehydrogenase (Lipoamide), Human health sciences, E1 alpha gene, Child, Pyruvate Dehydrogenase Complex Deficiency Disease, Cells, Cultured, Polymorphism, Single-Stranded Conformational, Repetitive Sequences, Nucleic Acid, Base Sequence, Infant, Fibroblasts, 3. Good health, Neurology, Energievoorziening in de menselijke spier onder fysiologische en pathologische condities, Mutation, Female, Pyruvate Dehydrogenase Complex Deficiency Disease/diagnosis/genetics

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/8664900
https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291098-1004%281996%297%3A1%3C46%3A%3AAID-HUMU6%3E3.0.CO%3B2-N
https://www.narcis.nl/publication/RecordID/oai%3Arepository.ubn.ru.nl%3A2066%2F188366
https://repository.ubn.ru.nl/handle/2066/188366
https://repository.ubn.ru.nl/bitstream/2066/22546/1/22546___.PDF
https://europepmc.org/abstract/MED/8664900
https://www.ncbi.nlm.nih.gov/pubmed/8664900
https://pure.amsterdamumc.nl/en/publications/b9df9196-0de3-4712-9547-43961861a517
https://doi.org/10.1002/(SICI)1098-1004(1996)7:1
http://hdl.handle.net/2066/188366
http://hdl.handle.net/2066/22546
https://repository.ubn.ru.nl//bitstream/handle/2066/22546/22546___.PDF
https://hdl.handle.net/20.500.14017/0af9c323-8c04-424b-b210-62d5ea6435bd
https://biblio.vub.ac.be/vubir/mutation-analysis-of-the-pyruvate-dehydrogenase-e1-alpha-gene-in-eight-patients-with-a-pyruvate-dehydrogenase-complex-deficiency(0af9c323-8c04-424b-b210-62d5ea6435bd).html

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit

Authors: De Meirleir, L Lissens, W Vamos, E et al.

Contributors: De Meirleir, L Lissens, W Vamos, E et al.

Source: Human genetics. 88(6)

Subject Terms: 0301 basic medicine, Male, 0303 health sciences, Base Sequence, PDH deficiency, Molecular Sequence Data, Pyruvate Dehydrogenase Complex/genetics, RNA, Messenger/metabolism, Infant, Newborn, Pyruvate Dehydrogenase Complex, DNA, Polymerase Chain Reaction, 3. Good health, 03 medical and health sciences, Acidosis, Lactic/congenital, Mutation, Humans, Acidosis, Lactic, Pyruvate Dehydrogenase (Lipoamide), Amino Acid Sequence, RNA, Messenger, mutation, Cloning, Molecular, Pyruvate Dehydrogenase Complex Deficiency Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/1551669
https://biblio.vub.ac.be/vubir/pyruvate-dehydrogenase-phd-deficiency-caused-by-a-21base-pair-insertion-mutation-in-the-e1-alpha-subunit(4a384fd2-8803-4ff9-8452-63114352e6d7).html
https://hdl.handle.net/20.500.14017/4a384fd2-8803-4ff9-8452-63114352e6d7
https://hdl.handle.net/20.500.14017/3af01e7a-7df3-4885-8ec8-01d63c118b9b
https://doi.org/10.1007/bf02265291
https://biblio.vub.ac.be/vubir/pyruvate-dehydrogenase-pdh-deficiency-caused-by-a-21base-pair-insertion-mutation-in-the-e1-alpha-subunit(3af01e7a-7df3-4885-8ec8-01d63c118b9b).html

Comparative 13C-metabolic flux analysis of pyruvate dehydrogenase complex-deficient L-valine-producing Corynebacterium glutamicum

Authors: Bartek, T. Blombach, B. Lang, S. et al.

Source: Applied and environmental microbiology 77, 6644 - 6652 (2011). doi:10.1128/AEM.00575-11

Subject Terms: info:eu-repo/classification/ddc/570, Carbon Dioxide: metabolism, Carbon Isotopes: metabolism, Corynebacterium glutamicum: genetics, Corynebacterium glutamicum: metabolism, Escherichia coli: enzymology, Escherichia coli: genetics, Escherichia coli Proteins: genetics, Escherichia coli Proteins: metabolism, Glycolysis, NADP Transhydrogenases: genetics, NADP Transhydrogenases: metabolism, Pentose Phosphate Pathway, Pyruvate Dehydrogenase Complex: genetics, Valine: metabolism, Carbon Isotopes, Escherichia coli Proteins, Pyruvate Dehydrogenase Complex, Carbon Dioxide, Valine, NADP Transhydrogenases, pntA protein, E coli, pntB protein

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0099-2240; info:eu-repo/semantics/altIdentifier/wos/WOS:000294691400040; info:eu-repo/semantics/altIdentifier/pmid/pmid:21784914

Availability: https://juser.fz-juelich.de/record/15863
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-15863%22

Studies on substrate utilisation in L-valine-producing Corynebacterium glutamicum strains deficient in pyruvate dehydrogenase complex

Authors: Bartek, T. Rudolf, C. Kerßen, U. et al.

Source: Bioprocess and biosystems engineering 33, 873 - 883 (2010). doi:10.1007/s00449-010-0410-1

Subject Terms: info:eu-repo/classification/ddc/570, Corynebacterium: classification, Corynebacterium: metabolism, Genetic Enhancement: methods, Pyruvate Dehydrogenase Complex: genetics, Pyruvate Dehydrogenase Complex: metabolism, Species Specificity, Substrate Specificity, Valine: biosynthesis, Pyruvate Dehydrogenase Complex, Valine, Corynebacterium glutamicum, L-Valine, Substrate uptake, Fermentation process development, Xylulose

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:20204663; info:eu-repo/semantics/altIdentifier/issn/1615-7591; info:eu-repo/semantics/altIdentifier/wos/WOS:000280892700010

Availability: https://juser.fz-juelich.de/record/11656
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-11656%22

Analysing overexpression of L-valine biosynthesis genes in pyruvate-dehydrogenase-deficient Corynebacterium glutamicum

Authors: Bartek, T. Zönnchen, E. Klein, B. et al.

Source: Journal of Industrial Microbiology & Biotechnology 37, 263 - 270 (2010). doi:10.1007/s10295-009-0669-x

Subject Terms: info:eu-repo/classification/ddc/570, Alanine: metabolism, Bacterial Proteins: genetics, Biosynthetic Pathways, Corynebacterium glutamicum: genetics, Corynebacterium glutamicum: metabolism, Gene Deletion, Gene Dosage, Gene Expression, Multigene Family, Plasmids, Pyruvate Dehydrogenase Complex: genetics, Valine: biosynthesis, Bacterial Proteins, Pyruvate Dehydrogenase Complex, Alanine, Valine, Corynebacterium glutamicum, L-Valine, Pyruvate dehydrogenase, Metabolome analysis, Pathway analysis

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:20012552; info:eu-repo/semantics/altIdentifier/issn/1367-5435; info:eu-repo/semantics/altIdentifier/issn/1476-5535; info:eu-repo/semantics/altIdentifier/wos/WOS:000274436100006

Availability: https://juser.fz-juelich.de/record/7036
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-7036%22

Corynebacterium glutamicum tailored for high-yield L-valine production

Authors: Blombach, B. Schreiner, M. E. Bartek, T. et al.

Source: Applied Microbiology and Biotechnology 79, 471 - 479 (2008). doi:10.1007/s00253-008-1444-z

Subject Terms: info:eu-repo/classification/ddc/570, Bacterial Proteins: genetics, Bacterial Proteins: metabolism, Biomass, Biosynthetic Pathways, Corynebacterium glutamicum: enzymology, Corynebacterium glutamicum: genetics, Corynebacterium glutamicum: metabolism, Fermentation, Gene Expression, Genetic Engineering, Ketol-Acid Reductoisomerase: genetics, Ketol-Acid Reductoisomerase: metabolism, Oxidoreductases: genetics, Oxidoreductases: metabolism, Pyruvate Dehydrogenase Complex: genetics, Pyruvate Dehydrogenase Complex: metabolism, Transaminases: genetics, Transaminases: metabolism, Valine: metabolism, Bacterial Proteins, Pyruvate Dehydrogenase Complex, Valine, Oxidoreductases, Ketol-Acid Reductoisomerase, Transaminases, branched-chain-amino-acid transaminase, Corynebacterium glutamicum, L-valine production

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000256026800016; info:eu-repo/semantics/altIdentifier/pmid/pmid:18379776; info:eu-repo/semantics/altIdentifier/issn/0175-7598

Availability: https://juser.fz-juelich.de/record/1232
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-1232%22

Effect of pyruvate dehydrogenase complex deficiency on L-lysine production with Corynebacterium glutamicum

Authors: Blombach, B. Schreiner, M. E. Moch, M. et al.

Source: Applied Microbiology and Biotechnology 76, 615 - 623 (2007). doi:10.1007/s00253-007-0904-1

Subject Terms: info:eu-repo/classification/ddc/570, Base Sequence, Biotechnology, Corynebacterium glutamicum: genetics, Corynebacterium glutamicum: growth & development, Corynebacterium glutamicum: metabolism, DNA, Bacterial: genetics, Fermentation, Gene Deletion, Gene Expression, Genes, Bacterial, Kinetics, Lysine: biosynthesis, Pyruvate Dehydrogenase Complex: genetics, Pyruvate Dehydrogenase Complex: metabolism, Pyruvate Dehydrogenase Complex, Lysine, Corynebacterium glutamicum, L-lysine, L-lysine production

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:17333167; info:eu-repo/semantics/altIdentifier/issn/0175-7598; info:eu-repo/semantics/altIdentifier/wos/WOS:000248893700015

Availability: https://juser.fz-juelich.de/record/59689
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-59689%22

L-Valine Production with Pyruvate Dehydrogenase Complex-Deficient Corynebacterium glutamicum

Authors: Blombach, B. Schreiner, M. E. Holatko, J. et al.

Source: Applied and environmental microbiology 73, 2079 - 2084 (2007). doi:10.1128/AEM.02826-06

Subject Terms: info:eu-repo/classification/ddc/570, Alanine: biosynthesis, Corynebacterium glutamicum: metabolism, Fermentation, Isoleucine: biosynthesis, Lysine: biosynthesis, Pyruvate Dehydrogenase Complex: genetics, Pyruvate Dehydrogenase Complex: physiology, Pyruvic Acid: metabolism, Valine: biosynthesis, Pyruvate Dehydrogenase Complex, Pyruvic Acid, Alanine, Lysine, Valine, Isoleucine

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0099-2240; info:eu-repo/semantics/altIdentifier/wos/WOS:000245576300006; info:eu-repo/semantics/altIdentifier/pmid/pmid:17293513

Availability: https://juser.fz-juelich.de/record/59150
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-59150%22

Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.

Authors: Cardozo, Alessandra K De Meirleir, Linda Liebaers, Ingeborg et al.

Source: Pediatric research, 48 (6

Subject Terms: Sciences bio-médicales et agricoles, Amino Acid Substitution, Animals, COS Cells, Cercopithecus aethiops, DNA Mutational Analysis, Exons -- genetics, Humans, Mutagenesis, Site-Directed, Nucleic Acid Conformation, Pyruvate Dehydrogenase (Lipoamide), Pyruvate Dehydrogenase Complex -- genetics, Pyruvate Dehydrogenase Complex Deficiency Disease -- enzymology, Pyruvate Dehydrogenase Complex Deficiency Disease -- genetics, RNA Precursors -- chemistry, RNA Precursors -- genetics, RNA Splicing -- genetics, Recombinant Fusion Proteins -- genetics, Reverse Transcriptase Polymerase Chain Reaction, Spliceosomes -- metabolism, Transfection, X Chromosome -- genetics

File Description: No full-text files

Relation: uri/info:pmid/11102541

Availability: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51355

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Authors: Lissens, W. De Meirleir, L. Seneca, S. et al.

Source: Human Mutation, 7 (1), 46-51 (1996)

Subject Terms: Base Sequence, Cells, Cultured, Child, Female, Fibroblasts, Humans, Infant, Male, Molecular Sequence Data, Mutation, Point Mutation, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Pyruvate Dehydrogenase (Lipoamide), Pyruvate Dehydrogenase Complex/genetics, Pyruvate Dehydrogenase Complex Deficiency Disease/diagnosis/genetics, Repetitive Sequences, Nucleic Acid, Transcription, Genetic, X Chromosome, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

Relation: urn:issn:1059-7794; urn:issn:1098-1004

Access URL: https://orbi.uliege.be/handle/2268/168292