Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Medical Journal of the Islamic Republic of Iran"
DOI: 10.34171/mjiri.33.126
Abstract: Background: Niemann-Pick diseases are rare inherited lipid storage disorders caused by mutations in the SMPD1, NPC1, and NPC2 genes. The aim of this study was to assess the mutation spectrum of a cohort of Iranian… read more here.
Keywords: mutation; smpd1 gene; pick diseases; niemann pick ... See more keywords
Heparin-induced tau filaments are polymorphic and differ from those in Alzheimer’s and Pick’s diseases
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DOI: 10.7554/elife.43584
Abstract: Assembly of microtubule-associated protein tau into filamentous inclusions underlies a range of neurodegenerative diseases. Tau filaments adopt different conformations in Alzheimer’s and Pick’s diseases. Here, we used cryo- and immuno- electron microscopy to characterise filaments… read more here.
Keywords: induced tau; alzheimer pick; heparin induced; pick diseases ... See more keywords