RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder. 

Paul F, Ng C, Nafissi S, Nilipoor Y, Tavasoli A, Bonnard C, Wong PM, Nabavizadeh N, Estiar MA, Majoie C, Lee H, Nelson S, Gan-Or Z, Rouleau GA, Van Veldhoven P, Massie R, Hennekam R and Kariminejad A. RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder. Human Molecular Genetics. 2022. PubMed, Preprint