Kariminejad-Reversade neurodevelopmental syndrome (KAREVS) is a novel syndrome characterized by progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. It has been reported that mutations in RBSN cause this syndrome. RBSN encodes Rabenosyn, a conserved endosomal protein necessary for regulating internalized cargo.
Paul F, Ng C, Mohamad Sahari UB, Nafissi S, Nilipoor Y, Tavasoli AR, Bonnard C, Wong PM, Nabavizadeh N, Altunoglu U, Estiar MA, Majoie CB, Lee H, Nelson SF, Gan-Or Z, Rouleau GA, Van Veldhoven PP, Massie R, Hennekam RC, Kariminejad A, Reversade B
タイトル
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
