Mitochondrial carrier deficiency associated with shuttle disturbances (WP5507)

Homo sapiens

Amino acid metabolism in triple-negative breast cancer cells. The glutamine, serine and glycine metabolic pathways are significantly upregulated. The upregulated expression of key genes within the glutamine, serine and glycine metabolic pathways have also been observed in triple-negative breast cancer cells. Associated to the main shuttles described in figure 43.2 in the second edition of “Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases” by Blau et al.

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Authors

Daan van Beek , Egon Willighagen , Eric Weitz , and Denise Slenter

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Mitochondrion Serious Request 2024 - MetaKids

Annotations

Pathway Ontology

disease pathway glycine metabolic pathway glutamine metabolic pathway cancer pathway serine metabolic pathway amino acid metabolic pathway

Disease Ontology

breast cancer triple-receptor negative breast cancer amino acid metabolic disorder

Participants

Label Type Compact URI Comment
H⁺ Metabolite chebi:24636
Glutamate Metabolite pubchem.compound:33032
Aspartate Metabolite chebi:29995
Oxaloacetate Metabolite hmdb:HMDB0000223
2-oxoglutarate Metabolite hmdb:HMDB0000208
GOT2 GeneProduct ensembl:ENSG00000125166
SLC25A22 GeneProduct ensembl:ENSG00000177542 Mitochondrial membrane transporter
SLC25A12 GeneProduct ensembl:ENSG00000115840 Mitochondrial membrane transporter
SLC25A13 GeneProduct ensembl:ENSG00000004864 Mitochondrial membrane transporter
GLUD1 GeneProduct ensembl:ENSG00000148672

References

  1. Metabolic reprogramming in triple-negative breast cancer. Wang Z, Jiang Q, Dong C. Cancer Biol Med. 2020 Feb 15;17(1):44–59. PubMed Europe PMC Scholia