Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23928
Abstract: Mucolipidosis (ML) II and III alpha/beta are inherited lysosomal storage disorders caused by mutations in GNPTAB encoding the α/β‐precursor of GlcNAc‐1‐phosphotransferase. This enzyme catalyzes the initial step in the modification of more than 70 lysosomal… read more here.
Keywords: mutations gnptab; mucolipidosis iii; alpha beta; iii alpha ... See more keywords
HST/WFPC2 imaging analysis and cloudy modelling of the multiple-shell planetary nebulae NGC 3242, NGC 6826, and NGC 7662
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DOI: 10.1093/mnras/sty1796
Abstract: We performed a detailed photometric analysis and photoionisation modelling on three high excitation multiple shell planetary nebulae: NGC 3242, NGC 6826 and NGC 7662. Archival HST/WFPC2 narrow band filter images were used to investigate shocked… read more here.
Keywords: analysis; ngc 3242; ngc; 6826 ngc ... See more keywords