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CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response

BACKGROUND: The Alzheimer’s disease (AD) risk gene ABCA7 has suggested functions in lipid metabolism and the immune system. Rare premature termination codon (PTC) mutations and an expansion of a variable number of tandem repeats (VNTR) polymorphism in the gene, both likely cause a lower ABCA7 expres...

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Detalles Bibliográficos
Autores principales: Duchateau, Lena, Küҫükali, Fahri, De Roeck, Arne, Wittens, Mandy M. J., Temmerman, Joke, Weets, Ilse, Timmers, Maarten, Engelborghs, Sebastiaan, Bjerke, Maria, Sleegers, Kristel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634183/
https://www.ncbi.nlm.nih.gov/pubmed/37946268
http://dx.doi.org/10.1186/s13195-023-01338-y