A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures
Reeval Segel, Adi Aran, Süleyman Gülsüner, Hiroki Nakamura, Tzvia Rosen, Tom Walsh, Hiroto Denda, Sharon Zeligson, Katsuki Eto, Rachel Beeri, Haruka Okai, Mary‐Claire King, Ephrat Levy‐Lahad, Kouichi Funato, Paul Renbaum
Topics & Concepts
Endoplasmic reticulumBiologyComplementationMutationTransmembrane proteinCell biologyMutantGolgi apparatusSphingolipidMembrane proteinEndoplasmic-reticulum-associated protein degradationGeneticsUnfolded protein responseGeneMembraneReceptorEndoplasmic Reticulum Stress and DiseaseCellular transport and secretionLysosomal Storage Disorders Research