A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) Deficiency
Lil Klaas, Estrella López‐Martín, Beatriz Martinez‐Delgado, Manuel Posada de la Paz, Antonia Ribes, Jörn Oliver Sass · 2026
Read A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) Deficiency by Lil Klaas, Estrella López‐Martín, Beatriz Martinez‐Delgado, Manuel Posada de la Paz, Antonia Ribes, Jörn Oliver Sass (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13588756.txt.
Description
Lil Klaas and five colleagues report a patient whose gene pattern raised doubt about which of two linked genes was at fault, in a paper dated twenty twenty-six. One gene's fault causes a rare metabolic disorder with wide-ranging symptoms. Its neighbor gene can be read as one fused message with it, raising the chance of spill-over effects. The patient carried one variant in each gene.
Enzyme tests on the patient's cells and lab overexpression studies settled the question. The neighbor variant did not change the enzyme's amount or activity. The fused message made no working protein either. The work guides how doctors read variants in this gene pair.
Catalog record
| CREATOR | Lil Klaas, Estrella López‐Martín, Beatriz Martinez‐Delgado, Manuel Posada de la Paz, Antonia Ribes, Jörn Oliver Sass |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 28 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |