GLE1Good Luck Everyone
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Pakkasjarvi et al., "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease," Nature Genetics, vol.
Caption: Figure 4: Pathogenic mechanisms underlying motor neuron disease in children of these genetic variants associated with paediatric motor neuron diseases relate to disordered regulation of autophagy/protein quality control (ASAH1, UBE1, UBQLN1, LYST, ATXN3, and SCP2), RNA processing (VRK1, EXOSC3, EXOSC8, TSEN54, SLC254A6, MORC2, SMN1, TRIP4, ASCC1, UBA1, GLE1, ERBB3, IGHMBP2, and RBM28), and cytoskeletal dynamics (ASAH1, BICD2, and DYNC1H1).
Early death Spinal muscular Antenatal Congenital fractures, UBE1 atrophy, X-linked arthrogryposis, and (SMAX2) tongue fasciculation Lethal Antenatal Fetal akinesia GLE1 arthrogryposis deformation sequence.