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Literature summary for 3.4.21.108 extracted from

  • Strauss, K.M.; Martins, L.M.; Plun-Favreau, H.; Marx, F.P.; Kautzmann, S.; Berg, D.; Gasser, T.; Wszolek, Z.; Mueller, T.; Bornemann, A.; Wolburg, H.; Downward, J.; Riess, O.; Schulz, J.B.; Krueger, R.
    Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease (2005), Hum. Mol. Genet., 14, 2099-2111.
    View publication on PubMed
Search for more literature for 3.4.21.108

Application

Application Comment Organism
medicine heterozygous G399S mutation in Parkinson's disease patients, which is absent in healthy controls, a A141S polymorphism is associated with Parkinson's disease, both mutations result in defective activation of Omi/HtrA2 and mitochondrial dysfunction associated with altered mitochondrial morphology Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression in Escherichia coli BL21 Codon Plus (DE3)-RIL Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytoplasm
-
 Homo sapiens 5737
-
mitochondrion predominant localisation, enlarged mitochondria with disorganized cristae in mutant cells Homo sapiens 5739
-
additional information halo of Lewy bodies from patients with pathologically confirmed idiopathic Parkinson's disease Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 518 Parkinson's disease patients
-

Purification (Commentary)

Purification (Comment) Organism
by glutathione-Sepharose beads Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
brain stem sections and cortical slices from patients with pathologically confirmed idiopathic Parkinson's disease Homo sapiens
-
HEK-293 cell
-
 Homo sapiens
-
kidney from human embryos Homo sapiens
-
neuroblastoma cell
-
 Homo sapiens
-
SH-SY5Y cell
-
 Homo sapiens
-

Storage Stability

Storage Stability Organism
-20°C Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
PDZ-interacting peptides + H2O
-
 Homo sapiens ?
-
 ?
X-linked inhibitor of apoptosis protein + H2O BIR2 Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
Omi/HtrA2
-
 Homo sapiens