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    • Decreased function of survival motor neuron protein impairs endocytic pathways. 

      Dimitriadi, M; Derdowski, A; Kalloo, G; Maginnis, MS; O'Hern, P; Bliska, B; Sorkaç, A; Nguyen, KCQ; Cook, SJ; Poulogiannis, G; Atwood, WJ; Hall, DH; Hart, AC (2016-07-11)
      Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele. SMN is critical for the assembly of ...