Article
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Human molecular genetics - 28 Oct 2022
Paul Franziska, Ng Calista, Mohamad Sahari Umar Bin, Nafissi Shahriar, Nilipoor Yalda, Tavasoli Ali Reza, Bonnard Carine, Wong Pui-Mun, Nabavizadeh Nasrinsadat, Altunoğlu Umut, Estiar Mehrdad A, Majoie Charles B, Lee Hane, Nelson Stanley F, Gan-Or Ziv, Rouleau Guy A, Van Veldhoven Paul P, Massie Rami, Hennekam Raoul C, Kariminejad Ariana, Reversade Bruno
Abstract excerpt
Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present clinical, genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. Using exome sequencing, we identified recessively...
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