Biomarker fibroblasts assessment type

General Details:

Name:
Biomarker fibroblasts assessment type
Steward:
NINDS
Definition:
Type of biomarker(s) assessed from fibroblasts samples.
Registration Status:
Qualified

Permissible Values:

Data Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
High resolution respirometry High resolution respirometry High resolution respirometry
lactate/pyruvate ratio lactate/pyruvate ratio lactate/pyruvate ratio
OXPHOS enzymology OXPHOS enzymology OXPHOS enzymology
pyruvate dehydrogenase enzymology pyruvate dehydrogenase enzymology pyruvate dehydrogenase enzymology
pyruvate dehydrogenase subunit western blot pyruvate dehydrogenase subunit western blot pyruvate dehydrogenase subunit western blot
pyruvate dehydrogenase immunohistochemistry pyruvate dehydrogenase immunohistochemistry pyruvate dehydrogenase immunohistochemistry
ATP synthesis ATP synthesis ATP synthesis
Fibroblast OXPHOS subunit immunohistochemistry Fibroblast OXPHOS subunit immunohistochemistry Fibroblast OXPHOS subunit immunohistochemistry
OXPHOS subunit western blot OXPHOS subunit western blot OXPHOS subunit western blot
Blue native gel electrophoresis Blue native gel electrophoresis Blue native gel electrophoresis
clear native gel OXPHOS immunoblot clear native gel OXPHOS immunoblot clear native gel OXPHOS immunoblot
clear native gel OXPHOS enzymology clear native gel OXPHOS enzymology clear native gel OXPHOS enzymology
Coenzyme Q10 Coenzyme Q10 Coenzyme Q10

Designations:

Designation:
Biomarker fibroblasts assessment type
Tags:

Designations:

Definition:
Type of biomarker(s) assessed from fibroblasts samples.
Tags:

Reference Documents:

ID:
Title:
URI:
Provider Org:
Language Code:
Document:
"Cameron, J.M., et al., Respiratory Chain Analysis of Skin Fibroblasts in Mitochondrial Disease. Mitochondrion, 2004. 4(5-6): P. 387-94. Van Den Heuvel, L.P., J.A. Smeitink, and R.J. Rodenburg, Biochemical Examination of Fibroblasts in the Diagnosis and Research of Oxidative Phosphorylation (OXPHOS) Defects. Mitochondrion, 2004. 4(5-6): P. 395-401. Cameron, J.M., et al., Deficiency of Pyruvate Dehydrogenase Caused by Novel and Known Mutations in the E1ALPHA Subunit. Am J Med Genet A, 2004. 131(1): P. 59-66. Schwab M.A., et al., Optimized Spctrophotometric Assay for the Completely Activated Pyruvate Dehydrogenase Complex in Fibroblasts. Clin Chem, 2005. 51(1): P. 151-60. Capaldi, R.A., et a;., Immunological Approaches to the Characterization and Diagnosis of Mitochondrial Disease. Mitochondrion, 2004. 4(5-6): P. 417-26. Shepherd, R.K., et al., Measurement of ATP Production in Mitochondrial Disorders. J Inherit Metab Dis, 2006. 29(1): P. 86-91. De Paepe, B., et al., Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects. Pediatr Res, 2006. 59(1): P. 2-6. Calvaruso, M.A., J. Smeitink, AND L. Nijtmans, Electrophoresis Techniques to Investigate Defects in Oxidative Phosphorylation. MEthods, 2008. 46(4): P. 281-7. Carrozzo, R., ET AL., Subcomplexes of Human ATP Synthase Mark Mitochondrial Biosynthesis Disorders. Ann Neurol, 2006. 59(2): P. 265-75. Dimauro, S., C.M. Quinzii, and M. Hirano, Mutations in Coenzynme Q10 Biosynthetic Genes. J Clin Invest, 2007. 117(3): P. 587-9. Lopez, L.C., et al., Leigh Syndrome with Nephropathy and COQ10 Deficiency Due to Decarpenyl Diphosphate Synthase Subunit 2 (PDSS2) Mutations. Am J Hum Genet, 2006. 79(6): P. 1125-9. Mollet, J., et al., Prenyldiphosphate Synthase Subunit 1 (PDSS1) And OH-Benzoate Polyprenyltransferase (COQ2) Mutations in Ubiquinone Deficiency and Oxidative Phosphorylation Disorders. J Clin Invest, 2007. 117(3): P. 765-72. Quinzii, C., et al., A Mutation in Para-hydroxybenzoate-polprenyltransferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. Am J Hum Genet, 2006. 78(2): P. 345-9."

Identifiers:

Source:
NLM
Id:
7yCSlGV5orA
Version:
1.1
Source:
BRICS Variable Name
Id:
BiomarkFibroblAssessTyp
Version:
Source:
NINDS
Id:
C19557
Version:
1