RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder
Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari, Shahriar Nafissi, Yalda Nilipoor, Ali Reza Tavasoli, Carine Bonnard, Pui‐Mun Wong, Nasrinsadat Nabavizadeh, Umut Altunoğlu, Mehrdad A. Estiar, Charles B.L.M. Majoie, Hane Lee, Stanley F. Nelson, Ziv Gan‐Or, , Bruno Reversade
This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.
Human Molecular Genetics · Jun 2, 2022Peer-reviewedGenetic & Genomic Medicine