Impact of D-bifunctional Protein Deficiency on Telomere Length and Gene Expression in a Child

  title={Impact of D-bifunctional Protein Deficiency on Telomere Length and Gene Expression in a Child},
  author={M. E. Hern{\'a}ndez-Caballero and D. Arenas-Aranda and Raquel Ch{\'a}vez-Torres and J. A. Sierra-Ram{\'i}rez and Calzada-Mendoza Claudia Camelia},
  journal={British journal of medicine and medical research},
  • M. E. Hernández-Caballero, D. Arenas-Aranda, +2 authors Calzada-Mendoza Claudia Camelia
  • Published 2013
  • Biology
  • British journal of medicine and medical research
  • Aim: To explore, in one patient, the possibility that D-bifunctional protein (D-BP) deficiency affects telomere length, and to determine the profile of genetic expression. Presentation of Case: Due to the symptoms of a newborn and his family background, a peroxisomal panel was performed. There were high levels of very long chain fatty acids and abnormal peroxisomes. At 8 months the patient exhibited other complications, including progressive multi systemic deterioration, and at 15 months died… CONTINUE READING
    1 Citations
    GxGrare: gene-gene interaction analysis method for rare variants from high-throughput sequencing data
    • 3


    Molecular basis of d-bifunctional protein deficiency
    • 55
    Clinical consequences of defects in peroxisomal β-oxidation
    • 34
    • PDF
    Clinical and biochemical spectrum of D‐bifunctional protein deficiency
    • 130
    Crucial role of a long-chain fatty acid elongase, Elovl6, in obesity-induced insulin resistance
    • 403
    • PDF
    Mouse models for peroxisome biogenesis defects and β-oxidation enzyme deficiencies.
    • 50
    The Membrane Biogenesis Peroxin Pex16p
    • 72
    • PDF
    Peroxisomes and oxidative stress.
    • 564
    • PDF