Litcius/Paper detail

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Adriana Rebelo, Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcová, Henry Houlden, Leslie Matalonga, Lisa Abreu, Guy A. Rouleau, Mehrdad A. Estiar, Liedewei Van de Vondel, Ziv Gan‐Or, Jonathan Baets, Rebecca Schüle, Stephan Zuchner

2022Genetics in Medicine30 citationsDOIOpen Access PDF

Topics & Concepts

Endoplasmic reticulumChaperone (clinical)Unfolded protein responseRegulatorMotor neuronMissense mutationFoldaseBiologyAdenylylationCell biologyAmyotrophic lateral sclerosisEndoplasmic-reticulum-associated protein degradationEnzymeDiseaseBiochemistryNeuroscienceMedicineMutationGeneInternal medicinePathologySpinal cordGroELBiosynthesisEscherichia coliLegionella and Acanthamoeba researchHereditary Neurological DisordersBotulinum Toxin and Related Neurological Disorders