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Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane.
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Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence.
Data indicate that the patient has a homozygous mutation in obscurin like 1 obscurin-like protein 1 (OBSL1) gene, and that both of the parents had heterozygous mutations on OBSL1.
The cytoskeletal adaptor OBSL1 was discovered as a previously unrecognized interaction partner of the minor capsid protein L2 and was identified as a proviral host factor required for HPV16 endocytosis into target cells.
High-quality solution NMR structures of immunoglobulin-like domains 7 and 12 from human obscurin-like protein 1 were solved. The two domains share 30% sequence identity and their structures are, as expected, rather similar.
CUL7 (Montrer CUL7 Anticorps), OBSL1 and CCDC8 (Montrer CCDC8 Anticorps) modulate the alternative splicing of the INSR (Montrer INSR Anticorps)
The CUL7 (Montrer CUL7 Anticorps), OBSL1, and CCDC8 (Montrer CCDC8 Anticorps) proteins form a 3M complex that functions in maintaining microtubule and genome integrity and normal development.
Mutations in CUL7 (Montrer CUL7 Anticorps), OBSL1 and CCDC8 (Montrer CCDC8 Anticorps) in 3-M syndrome lead to disordered growth factor signalling.
discussion of roles of OBSL1, CUL7 (cullin 7 (Montrer CUL7 Anticorps)), and CCDC8 (coiled-coil domain containing protein 8 (Montrer CCDC8 Anticorps)) in growth and development using findings from patients with Miller-McKusick-Malvaux syndrome and Silver-Russell syndrome [REVIEW]
We propose that CUL7 (Montrer CUL7 Anticorps), OBSL1, and CCDC8 (Montrer CCDC8 Anticorps) are members of a pathway controlling mammalian growth.
OBSL1 modulates the expression of IGFBP2 (Montrer IGFBP2 Anticorps) and IGFBP5 (Montrer IGFBP5 Anticorps) proteins in 3-M syndrome.
Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89\\/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene.
obscurin-like protein 1
, obscurin-like 1