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  • rhizomelic chondrod
  • Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. (wikipedia.org)
  • Mutations
  • The study of these mutations in flies has allowed us to understand loss and gain of function alleles in peroxisomal disease and broadened our understanding of these phenotypes and their biological basis. (bcm.edu)
  • genes
  • We have successfully applied these tools to solve cases in the Centers for Mendelian Genomics (www.mendelian.org), and we are currently applying this pipeline to developmental brain disorders such as Autism by studying genes from the Simons Simplex Collection as well as unsolved cases from the Undiagnosed Diseases Network (UDN). (bcm.edu)
  • We use Drosophila and human samples to study the function of peroxisomal genes. (bcm.edu)
  • molecular
  • Molecular and Developmental Mechanisms of Mendelian Disorders. (bcm.edu)
  • Model Organisms and the Molecular Pathogenesis of Mendelian Disorders: Genomic sequencing is an increasingly powerful tool for identifying the genetic basis of human developmental disorders. (bcm.edu)
  • defective
  • Lysosomal storage disorders are a diverse group of inherited diseases where macromolecules accumulate due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function. (testcatalog.org)
  • Refsum
  • IRD is associated with deficient phytanic acid catabolism, as is Adult Refsum disease, but they are different disorders that should not be confused. (wikipedia.org)
  • It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991). (wikipedia.org)
  • Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues. (wikipedia.org)
  • matrix protein
  • Three possible mechanisms for peroxisomal matrix protein degradation can be envisioned: degradation within the organelle by resident proteases, degradation of the entire organelle via autophagy, or retrotranslocation out of the organelle followed by cytosolic degradation. (genetics.org)
  • protein
  • We exploit developmentally timed peroxisomal content remodeling in Arabidopsis thaliana to elucidate peroxisome-associated protein degradation. (genetics.org)
  • Three possible mechanisms for peroxisomal matrix protein degradation can be envisioned: degradation within the organelle by resident proteases, degradation of the entire organelle via autophagy, or retrotranslocation out of the organelle followed by cytosolic degradation. (genetics.org)
  • This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. (nih.gov)
  • Similarly, we are interested in inborn errors of biogenesis and function of the peroxisome, a ubiquitous sub-cellular organelle whose protein components participate in numerous metabolic pathways. (hopkinsmedicine.org)
  • Peroxisomal biogenesis factor 3 is a protein that in humans is encoded by the PEX3 gene. (wikipedia.org)
  • hematopoietic cell
  • This study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) in patients with high-risk lysosomal and peroxisomal disorders using a novel conditioning regimen for hematopoietic cell transplantation (HCT). (clinicaltrials.gov)