Atg 7 is homologous to the ubiquitin-activating enzyme E1 (Uba1) in the two ubiquitin-like conjugation systems, which is essential to these conjugation systems and indispensable for both selective and nonselective autophagy inductions in innate immunity [15, 57, 59].
Hayes et al., "Uba1 functions in Atg7- and Atg3-independent autophagy," Nature Cell Biology, vol.
Recessive mutations in four distinct genes have been identified in congenital/infantile SMA with arthrogryposis or fractures, including survival motor neuron 1 (SMN1) , thyroid hormone receptor interactor 4 (TRIP4), activating signal cointegrator 1 complex subunit 1 (ASCC1) , and ubiquitin-like modifier-activating enzyme 1 (UBA1).
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).
Most of the identified extracellular membrane-bounded organelle proteins such as TUBA1B, ITGB2, UBA1
, and ACTB were localized to intracellular and plasma membrane, which suggested that MA has invaded into the cell by attaching to the cell membrane and then affected the expression of the extracellular protein.