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Expanded Phenotype of the <i>Cln6<sup>nclf</sup></i> Mouse Model

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurogenetic disorders caused by mutations in 14 different genes. CLN6 disease manifests as variant late-infantile NCL (vLINCL) or as an adult variant. In childhood, symptoms include speech delay, vision loss, cognitive and mot...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Victoria Chaoul, Sara Saab, Omar Shmoury, Ramy Alam, Lynn Al Aridi, Nadine J. Makhoul, Jihane Soueid, Rose-Mary Boustany
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI AG 2025-04-01
Schriftenreihe:Cells
Schlagworte:
CLN6 disease
<i>Cln6<sup>nclf</sup></i> mice
apoptosis
neurodegeneration
motor deficits
vision loss
Online-Zugang:https://www.mdpi.com/2073-4409/14/9/661
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