Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9
These findings raise the possibility that the disease involves the combined influence of the two variants, and that the proteins encoded by these genes interact within the Golgi apparatus to mediate protein sorting and transport to lysosomes. An alteration in this interaction could underlie the NCL-like lysosomal storage disorder observed in the proband.
Authors
- Garrett Bullock (ORCID: https://orcid.org/0000-0002-9231-8758)
- Rebecca J. Welly (ORCID: https://orcid.org/0009-0003-9277-3675)
- Lucie Chevallier (ORCID: https://orcid.org/0000-0001-8602-1993)
- Martin L. Katz (ORCID: https://orcid.org/0000-0002-2582-9187)
- Alexander Then (ORCID: https://orcid.org/0000-0002-9406-4296)
Institutions
- École Nationale Vétérinaire d'Alfort (FR)
- Örebro University (SE)
- Missouri College (US)
- Danderyds sjukhus (SE)
- Institut Mondor de Recherche Biomédicale (FR)
Publication Details
- Journal
- Genes
- Published
- 2025-11-11
- DOI
- https://doi.org/10.3390/genes16111370
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00