Component

Human DLD Gly101 deletion

Human pathogenic DLD G101del protein studied as a recombinant enzyme.

1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.

How nutrients influence it

Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.

How nutrients reach it in more than one step

Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.

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What it does

Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.

Recorded relationships

What it acts on

  1. Human DLD G101del retained about 0.07 FAD per monomer in the recombinant preparation; size-exclusion analysis also indicated loss of its normal dimeric assembly.

    Human DLD Gly101 deletion → FAD source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_spans
    [{"source_bundle": "artifacts/riboflavin_metabolism_sources.json", "source_key": "PMC10341545", "locator": "XML .//body//p", "paragraph_index": 5, "char_start": 0, "char_end": 502, "evidence_access": "full-text"}, {"source_bundle": "artifacts/riboflavin_metabolism_sources.json", "source_key": "PMC10341545", "locator": "XML .//body//p", "paragraph_index": 6, "char_start": 0, "char_end": 1435, "evidence_access": "full-text"}]
    experimental_model
    Recombinant human DLD variants expressed in E. coli BL21(DE3), FAD quantification, activity, chromatography and crystallography.
    exposure
    G101del mutagenesis; FAD quantification and calibrated size exclusion.
    limitations
    Low expression and preparation heterogeneity were reported; no riboflavin-rescue experiment.
    nutrient_topic
    Riboflavin research collection; topical membership is not evidence of a direct dietary effect. · Riboflavin (vitamin B2)
    organism
    Homo sapiens
    plain_language
    A different DLD alteration disrupted both flavin retention and protein assembly.
    primary_references
    [szabo-2023-dld-variants] Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase (2023). https://pubmed.ncbi.nlm.nih.gov/37446004/ DOI: 10.3390/ijms241310826
    tissue_or_cell_type
    Purified recombinant DLD
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Riboflavin: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 861–872

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Recombinant human DLD variants expressed in E. coli BL21(DE3), FAD quantification, activity, chromatography and crystallography. · source_derived_draft · unverified_draft

    ### b2-met-dld-g101del-fad-retention Human DLD G101del retained about 0.07 FAD per monomer in the recombinant preparation; size-exclusion analysis also indicated loss of its normal dimeric assembly. Condition category: machinery_impairment nutrient_topic: Riboflavin research collection; topical membership is not evidence of a direct dietary effect. plain_language: A different DLD alteration disrupted both flavin retention and protein assembly. organism: Homo sapiens tissue_or_cell_type: Purified recombinant DLD experimental_model: Recombinant human DLD variants expressed in E. coli BL21(DE3), FAD quantification, activity, chromatography and crystallography. limitations: Low expression and preparation heterogeneity were reported; no riboflavin-rescue experiment. exposure: G101del mutagenesis; FAD quantification and calibrated size exclusion. evidence_spans: [{"source_bundle": "artifacts/riboflavin_metabolism_sources.json", "source_key": "PMC10341545", "locator": "XML .//body//p", "paragraph_index": 5, "char_start": 0, "char_end": 502, "evidence_access": "full-text"}, {"source_bundle": "artifacts/riboflavin_metabolism_sources.json", "source_key": "PMC10341545", "locator": "XML .//body//p", "paragraph_index": 6, "char_start": 0, "char_end": 1435, "evidence_access": "full-text"}] [szabo-2023-dld-variants] Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase (2023). https://pubmed.ncbi.nlm.nih.gov/37446004/ DOI: 10.3390/ijms241310826
    Complete structured claim and evidence

In the sources

Preserved passages that mention this component, quoted exactly. Open one to read it in context.

    This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.

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