Omics · study · 2026
Liver Disease Reveals KIF12 as a Critical Regulator of Organelle Localization
Listed in NCBI GEO
Kinesin family member 12 (KIF12) has been implicated in liver disease requiring transplantation in pediatric patients.
Description
Single cell RNA-sequencing shows KIF12 expression selectively in biliary cells in healthy human liver. Here, we generated a human KIF12-disease model by introducing a homozygous KIF12 p.Arg219* mutation in induced pluripotent stem cells.
These cells were differentiated into 2D cholangiocyte-like cells (iCCs) and 3D biliary organoids. Pioneering single-molecule fluorescence microscopy in live iCCs, we observed wild-type KIF12 co-localizing with microtubules, consistent with prediction of being a microtubule associated motor protein. KIF12 deficiency causes perinuclear clustering of mitochondria and lysosomes, along with aberrant cilia localization.
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These defects were rescued by viral delivery of wild-type KIF12. Collectively, these findings uncovered a mechanistic link between KIF12 dysfunction, mitochondria, lysosomes, and cilia mispositioning, and biliary pathology. Our study expands the knowledge of kinesins beyond neuronal function and provides a foundation for development of targeted genetic therapies for kinesinopathies.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE278nnn/GSE278954 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE278954 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1169825 ncbi.nlm.nih.gov/bioproject/PRJNA1169825 ↗
project · from NCBI GEO
- PubMed 42727250 pubmed.ncbi.nlm.nih.gov/42727250 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Disease 75% · Microscopy 75%
Provenance · 1 source records, 9 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE278954 | 14 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[modality].local:modality:microscopy | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |