Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
October 8, 2025Journal of Translational MedicineOpen Access

ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish

View Full Paper
Ask AI
Bookmark
Share

Authors

CXChunyan XianQLQing LuoWLWeiping Li

Discussion

Loading...

Member takes

Overview

Analysis reveals atp5f1a mutations cause motor dysfunction and developmental delay, indicating important insights for therapy.

Key Points

  • Atp5f1a deficiency led to significant motor dysfunction and developmental delay in both humans and zebrafish models.
  • A de novo missense mutation was identified that reduced protein stability and expression, correlating with disease symptoms.
  • Morpholino oligonucleotides were used to induce gene knockdown, causing impaired motor neuron morphology in zebrafish.
  • Transcriptomic analysis revealed over 2,200 differentially expressed genes linked to neurotransmission and autophagy pathways.

Cite This Study

Xian et al. (2025) studied this question.

synapsesocial.com/papers/68e6679587ecc93a24d17469https://doi.org/10.1186/s12967-025-07032-x
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders2025
  2. 2A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the ATP5F1A Gene2026
  3. 3Analysis of a zebrafish behavioral mutant reveals a dominant mutation in atp2a1/SERCA12010 · 23 citations
  4. 4Deletion of taf1 and taf5 in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism2023 · 4 citations
  5. 5Biallelic Variants in <i>ASNA1</i> , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy2019 · 11 citations