Component
CHKB nonsense genotypes in the three 2011 muscle assays
CHKB nonsense genotypes in the three 2011 muscle assays. Species, exposure and limitations are retained in each linked claim.
2 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.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
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.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What it acts on
Choline kinase activity was undetectable in the three reported muscle samples with CHKB nonsense variants.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/choline-research/21665002.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f", "start_char": 0, "end_char": 1157, "text_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f"}
- experimental_model
- Fifteen affected individuals with CHKB variants; muscle assays in three
- exposure
- Biallelic CHKB variants; three nonsense-genotype muscle samples
- limitations
- A congenital enzyme defect, distinct from ordinary nutrient depletion; mitochondrial morphology does not prove one unique downstream lesion.
- nutrient_topic
- Choline research collection; topical membership is not evidence of a direct dietary effect. · Choline
- organism
- Human
- plain_language
- The first phosphorylation step was severely impaired.
- primary_references
- [choline-p21665002] A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. (2011). https://pubmed.ncbi.nlm.nih.gov/21665002/ DOI: 10.1016/j.ajhg.2011.05.010
- tissue_or_cell_type
- Skeletal muscle
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Choline: metabolism, signaling and nutrient connections (2026-09-17) · lines 711–722
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Fifteen affected individuals with CHKB variants; muscle assays in three · source_derived_draft · unverified_draft
### choline-chkb-activity Choline kinase activity was undetectable in the three reported muscle samples with CHKB nonsense variants. Condition category: machinery_impairment nutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect. plain_language: The first phosphorylation step was severely impaired. organism: Human tissue_or_cell_type: Skeletal muscle experimental_model: Fifteen affected individuals with CHKB variants; muscle assays in three limitations: A congenital enzyme defect, distinct from ordinary nutrient depletion; mitochondrial morphology does not prove one unique downstream lesion. exposure: Biallelic CHKB variants; three nonsense-genotype muscle samples evidence_span: {"source_cache": "artifacts/choline-research/21665002.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f", "start_char": 0, "end_char": 1157, "text_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f"} [choline-p21665002] A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. (2011). https://pubmed.ncbi.nlm.nih.gov/21665002/ DOI: 10.1016/j.ajhg.2011.05.010
Complete structured claim and evidencePhosphatidylcholine levels were reduced in those affected muscle samples.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_span
- {"source_cache": "artifacts/choline-research/21665002.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f", "start_char": 0, "end_char": 1157, "text_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f"}
- experimental_model
- Fifteen affected individuals with CHKB variants; muscle assays in three
- exposure
- Biallelic CHKB variants; three nonsense-genotype muscle samples
- limitations
- A congenital enzyme defect, distinct from ordinary nutrient depletion; mitochondrial morphology does not prove one unique downstream lesion.
- nutrient_topic
- Choline research collection; topical membership is not evidence of a direct dietary effect. · Choline
- organism
- Human
- plain_language
- The membrane-lipid product was lower in the sampled tissue.
- primary_references
- [choline-p21665002] A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. (2011). https://pubmed.ncbi.nlm.nih.gov/21665002/ DOI: 10.1016/j.ajhg.2011.05.010
- tissue_or_cell_type
- Skeletal muscle
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Choline: metabolism, signaling and nutrient connections (2026-09-17) · lines 724–735
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Fifteen affected individuals with CHKB variants; muscle assays in three · source_derived_draft · unverified_draft
### choline-chkb-pc Phosphatidylcholine levels were reduced in those affected muscle samples. Condition category: machinery_impairment nutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect. plain_language: The membrane-lipid product was lower in the sampled tissue. organism: Human tissue_or_cell_type: Skeletal muscle experimental_model: Fifteen affected individuals with CHKB variants; muscle assays in three limitations: A congenital enzyme defect, distinct from ordinary nutrient depletion; mitochondrial morphology does not prove one unique downstream lesion. exposure: Biallelic CHKB variants; three nonsense-genotype muscle samples evidence_span: {"source_cache": "artifacts/choline-research/21665002.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f", "start_char": 0, "end_char": 1157, "text_sha256": "ccd6913be10435c076cc81d7ea0509678751d445078c857bb977497a3754059f"} [choline-p21665002] A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. (2011). https://pubmed.ncbi.nlm.nih.gov/21665002/ DOI: 10.1016/j.ajhg.2011.05.010
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.