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In the two wild type (WT) cases, two novel alterations were detected: a complex deletion of APC and a pathogenic mutation of LAMTOR2. Focusing on WT DT subtype, deep sequencing of CTNNB1, APC and LAMTOR2 was conducted on a retrospective series of 11 WT DT using a targeted approach
identified polymorphisms in LAMTOR2 and LAMTOR3 do not seem to play a relevant role in breast cancer
The ROBLD3 C-A, thorn23 mutation creates a 50SS capable of recruiting an inhibitory U1 snRNP complex leading to a failure of proper 30 end formation and rapid degradation of p14 mRNA.
simulations constitute a multi-dimensional exploration of how EGF-dependent EGFR endocytosis and ERK activation are dynamically affected by scaffolds KSR and MP1, co-regulated by Cbl-CIN85 and Endophilin A1
A complex encoded by the MAPKSP1, ROBLD3, and c11orf59 genes interacts with the Rag GTPases, recruits them to lysosomes, and is essential for mTORC1 activation
The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene.
MAPKSP1 adaptor protein
, endosomal adaptor protein p14
, late endosomal/lysosomal Mp1-interacting protein
, late endosomal/lysosomal adaptor and MAPK and MTOR activator 2
, mitogen-activated protein-binding protein-interacting protein (MAPBPIP)
, ragulator complex protein LAMTOR2
, roadblock domain containing 3
, roadblock domain-containing protein 3
, mitogen-activated protein-binding protein-interacting protein
, late endosomal/lysosomal MP1 interacting protein
, mitogen activated protein binding protein interacting protein
, mitogen-activated protein binding protein interacting protein
, Mitogen-activated protein-binding protein-interacting protein
, Roadblock domain-containing protein 3
, putative mitogen-activated protein-binding protein-interacting protein