Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:Q16637 (
SMA
)
8,107
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Cajal bodies (CBs) are nuclear organelles involved in the maturation of spliceosomal small nuclear ribonucleoproteins (snRNPs). They concentrate coilin, snRNPs and the
survival motor neuron protein
(
SMN
). Dysfunction of CB assembly occurs in spinal muscular atrophy (SMA). Here, we demonstrate that
SMN
is a SUMO1 target that has a small ubiquitin-related modifier (SUMO)-interacting motif (SIM)-like motif in the Tudor domain. The expression of SIM-like mutant constructs abolishes the interaction of
SMN
with the spliceosomal SmD1 (also known as
SNRPD1
), severely decreases
SMN
-coilin interaction and prevents CB assembly. Accordingly, the
SMN
SIM-like-mediated interactions are important for CB biogenesis and their dysfunction can be involved in SMA pathophysiology.
...
PMID:The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis. 2441 65
