A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2016.11.012
Abstract: Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life. Saposins are activator proteins that promote the function of lysosomal hydrolases that mediate the degradation… read more here.
Keywords: storage; lysosomal storage; saposin deficiency; saposin ... See more keywords
Rare Saposin A deficiency: Novel variant and psychosine analysis.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.08.001
Abstract: Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A… read more here.
Keywords: psychosine; deficiency; saposin deficiency; saposin ... See more keywords