A NOVEL MISSENSE MUTATION OUTSIDE DNAJ DOMAIN OF DNAJC21 IS ASSOCIATED WITH SHWACHMAN-DIAMOND SYNDROME
Sign Up to like & getrecommendations! Published in 2021 at "Hematology, Transfusion and Cell Therapy"
DOI: 10.1016/j.htct.2021.10.1086
Abstract: Shwachman-Diamond Syndrome (SDS) and related bone marrow failure disorders are characterized by early onset pancytopenia with a hypocellular bone marrow, short stature, and pancreatic insufficiency, along with an increased risk for myeloid malignancies. Recently, several… read more here.
Keywords: syndrome; dnaj domain; domain dnajc21; mutation ... See more keywords
Mutagenesis and structural modeling implicate RME-8 IWN domains as conformational control points
Sign Up to like & getrecommendations! Published in 2022 at "PLOS Genetics"
DOI: 10.1101/2022.06.16.496522
Abstract: After endocytosis, transmembrane cargo is differentially sorted into degradative or recycling pathways. This process is facilitated by recruitment into physically distinct degradative or recycling microdomains on the limiting membrane of individual endosomes. Endosomal sorting complexes… read more here.
Keywords: rme; dnaj domain; iwn domains; microdomain ... See more keywords