1spd: Difference between revisions

Revision as of 08:58, 3 May 2008

AMYOTROPHIC LATERAL SCLEROSIS AND STRUCTURAL DEFECTS IN CU,ZN SUPEROXIDE DISMUTASE

OverviewOverview

Single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene (SOD1) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS). Complete screening of the SOD1 coding region revealed that the mutation Ala4 to Val in exon 1 was the most frequent one; mutations were identified in exons 2, 4, and 5 but not in the active site region formed by exon 3. The 2.4 A crystal structure of human SOD, along with two other SOD structures, established that all 12 observed FALS mutant sites alter conserved interactions critical to the beta-barrel fold and dimer contact, rather than catalysis. Red cells from heterozygotes had less than 50 percent normal SOD activity, consistent with a structurally defective SOD dimer. Thus, defective SOD is linked to motor neuron death and carries implications for understanding and possible treatment of FALS.

About this StructureAbout this Structure

1SPD is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

ReferenceReference

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase., Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Hu P, Herzfeldt B, Roos RP, et al., Science. 1993 Aug 20;261(5124):1047-51. PMID:8351519 Page seeded by OCA on Sat May 3 08:58:57 2008

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

OCA

@@ Line 1: / Line 1: @@
 [[Image:1spd.gif|left|200px]]
- {{Structure
+<!--
-|PDB= 1spd |SIZE=350|CAPTION= <scene name='initialview01'>1spd</scene>, resolution 2.4&Aring;
+The line below this paragraph, containing "STRUCTURE_1spd", creates the "Structure Box" on the page.
-|SITE=
+You may change the PDB parameter (which sets the PDB file loaded into the applet)
-|LIGAND= <scene name='pdbligand=ACE:ACETYL+GROUP'>ACE</scene>, <scene name='pdbligand=CU:COPPER+(II)+ION'>CU</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene>
+or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-|ACTIVITY= <span class='plainlinks'>[http://en.wikipedia.org/wiki/Superoxide_dismutase Superoxide dismutase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.15.1.1 1.15.1.1] </span>
+or leave the SCENE parameter empty for the default display.
-|GENE=
+-->
-|DOMAIN=
+{{STRUCTURE_1spd|  PDB=1spd  |  SCENE=  }}
-|RELATEDENTRY=
-|RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1spd FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1spd OCA], [http://www.ebi.ac.uk/pdbsum/1spd PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=1spd RCSB]</span>
-}}
 '''AMYOTROPHIC LATERAL SCLEROSIS AND STRUCTURAL DEFECTS IN CU,ZN SUPEROXIDE DISMUTASE'''
@@ Line 28: / Line 25: @@
 [[Category: Parge, H E.]]
 [[Category: Tainer, J A.]]
-[[Category: oxidoreductase(superoxide acceptor)]]
+''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sat May  3 08:58:57 2008''
-''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Mar 30 23:45:12 2008''