Survival of motor neuron

The Survival of Motor Neuron (SMN) is a protein involved in the assembly of snRNPs, the essential components of spliceosomal machinery. A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.

SMN also functions in transcriptional regulation, telomerase regeneration and cellular trafficking.[1]

A 2004 study using high-throughput screening found indoprofen to increase production of the survival of motor neuron protein, suggesting it may provide insight into treatments for spinal muscular atrophies.[2]

Later research show a possible role of SMN in neuronal migration and/or differentiation [3].

See also

References

  1. ^ Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN. (2009). "A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy". RNA Biology. doi:http://www.ricercasma.it/index.php?option=com_phocadownload&view=category&id=1:generale&download=66:aso&Itemid=67&lang=en. 
  2. ^ Lunn MR, Root DE, Martino AM, et al. (2004). "Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism". Chem Biol 11 (11): 1489–93. doi:10.1016/j.chembiol.2004.08.024. PMID 15555999. 
  3. ^ http://cat.inist.fr/?aModele=afficheN&cpsidt=17713178

External links

Chaperones/
protein folding
Other
Alpha crystallin · Clusterin · Survival of motor neuron (SMN1, SMN2)
Protein targeting
Ubiquitin

E1 Ubiquitin-activating enzyme (UBA1, UBA2, UBA3, UBA5, UBA6, UBA7, ATG7, NAE1, SAE1)

E2 Ubiquitin-conjugating enzyme (A • B • C • D1, D2, D3 • E1, E2, E3 • G1, G2 • H • I • J1, J2 • K • L1, L2, L3, L4, L6 • M • N • O • Q1, Q2 • R1 (CDC34), R2 • S • V1, V2 • Z)

E3 Ubiquitin ligase (VHL, Cullin, CBL, MDM2, FANCL, UBR1)

Deubiquitinating enzyme: Ataxin 3 • USP6 • CYLD

ATG3 • BIRC6 • UFC1
Other
see also posttranslational modification disorders
B bsyn: dna (repl, cycl, reco, repr) · tscr (fact, tcrg, nucl, rnat, rept, ptts) · tltn (risu, pttl, nexn) · dnab, rnab/runp · stru (domn, 1°, 2°, 3°, 4°)
Structures of the cell nucleus / nuclear protein
Envelope (membrane)/
nuclear lamina
Nucleolus
Other

Chromatin · Dot (PML body) · Paraspeckle

SMC protein: Cohesin (SMC1A, SMC1B, SMC3) · Condensin (NCAPD2, NCAPD3, NCAPG, NCAPG2, NCAPH, NCAPH2, SMC2, SMC4) · DNA repair (SMC5, SMC6)

Transition nuclear protein: TNP1, TNP2

Nuclear matrix · Nucleoplasm · Nucleoskeleton · Nucleosol

LITAF

see also transcription factors and intracellular receptors
see also nucleus diseases
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)