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Banerjee D, Ghosh D, Chatterjee A, et al. No Evidence for Mutations that Deregulate GARS-AIRS-GART Protein Levels in Children with Down Syndrome. Indian J Clin Biochem. 2012;27(1):46-51doi: 10.1007/s12291-011-0183-6.
Banerjee, D., Ghosh, D., Chatterjee, A., Sinha, S., & Nandagopal, K. (2012). No Evidence for Mutations that Deregulate GARS-AIRS-GART Protein Levels in Children with Down Syndrome. Indian journal of clinical biochemistry : IJCB, 27(1), 46-51. https://doi.org/10.1007/s12291-011-0183-6
Banerjee, Disha, et al. "No Evidence for Mutations that Deregulate GARS-AIRS-GART Protein Levels in Children with Down Syndrome." Indian journal of clinical biochemistry : IJCB vol. 27,1 (2012): 46-51. doi: https://doi.org/10.1007/s12291-011-0183-6
Banerjee D, Ghosh D, Chatterjee A, Sinha S, Nandagopal K. No Evidence for Mutations that Deregulate GARS-AIRS-GART Protein Levels in Children with Down Syndrome. Indian J Clin Biochem. 2012 Jan;27(1):46-51. doi: 10.1007/s12291-011-0183-6. Epub 2012 Jan 06. PMID: 23277712; PMCID: PMC3286581.
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Indian J Clin Biochem. 2012 Jan;27(1):46-51. doi: 10.1007/s12291-011-0183-6. Epub 2012 Jan 06.

No Evidence for Mutations that Deregulate GARS-AIRS-GART Protein Levels in Children with Down Syndrome.

Indian journal of clinical biochemistry : IJCB

Disha Banerjee, Debarati Ghosh, Anindita Chatterjee, Swagata Sinha, Krishnadas Nandagopal

Affiliations

  1. Manovikas Biomedical Research and Diagnostic Centre, 482 Madudah, Plot I-24, Sector J, Eastern Metropolitan Bypass, Kolkata, 700 107 India.

PMID: 23277712 PMCID: PMC3286581 DOI: 10.1007/s12291-011-0183-6

Abstract

UNLABELLED: GARS-AIRS-GART is crucial in studies of Down syndrome (DS)-related mental retardation due to its chromosomal location (21q22.1), involvement in de novo purine biosynthesis and over-expression in fetal DS brain postmortem samples. GARS-AIRS-GART regions important for structure-function were screened for mutations that might alter protein levels in DS patients. Mutation screening relied on multiplex/singleplex PCR-based amplification of genomic targets followed by amplicon size determination/fingerprinting. Serum protein samples were resolved by SDS-PAGE and immunoblotted with a GARS-AIRS-GART monoclonal antibody. No variation in amplicon size/fingerprints was observed in regions encoding the ATP-binding, active site residues of GARS, the structurally important glycine-rich loops of AIRS, substrate-binding, flexible and folate-binding loops of GART or the poly-adenylation signal sequences. The de novo occurrence or inheritance of large insertion/deletion/rearrangement-type mutations is therefore excluded. Immunoblots show presence of GARS-AIRS-GART protein in all patient samples, with no change in expression levels with respect to either sex or developmental age.

ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s12291-011-0183-6) contains supplementary material, which is available to authorized users.

Keywords: Down syndrome-related mental retardation; GARS–AIRS–GART; Immunoblot; Mutation screen; Survival

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