N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medicinal Chemistry"
DOI: 10.1021/acs.jmedchem.2c01617
Abstract: Sanfilippo syndrome comprises a group of four genetic diseases due to the lack or decreased activity of enzymes involved in heparan sulfate (HS) catabolism. HS accumulation in lysosomes and other cellular compartments results in tissue… read more here.
Keywords: sanfilippo type; substituted iminosugars; syndrome; iminosugars treatment ... See more keywords
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0200008
Abstract: Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases from allele frequencies, provided one knows which mutations are causal. We tested this… read more here.
Keywords: incidence; unknown significance; variants unknown; sanfilippo type ... See more keywords