A5070970254- Peroxisome Proliferator-Activated Receptors
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- RNA regulation and disease
- Adipose Tissue and Metabolism
- RNA Research and Splicing
- Folate and B Vitamins Research
- interferon and immune responses
- Retinoids in leukemia and cellular processes
- Cancer-related gene regulation
- Cancer, Hypoxia, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Neonatal Health and Biochemistry
- Adenosine and Purinergic Signaling
- Inflammatory mediators and NSAID effects
- Osteoarthritis Treatment and Mechanisms
- Protein Degradation and Inhibitors
- Genomics and Rare Diseases
- Immune Cell Function and Interaction
- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- Metabolism, Diabetes, and Cancer
- Autophagy in Disease and Therapy
- Erythrocyte Function and Pathophysiology
- Retinal Development and Disorders
McGill University Health Centre
2016-2025
McGill University
2016-2025
Montreal Children's Hospital
2015-2024
Douglas Mental Health University Institute
2019
Dicle University
2015
Johns Hopkins Medicine
1995-2009
Johns Hopkins University
2000-2009
Johns Hopkins Bayview Medical Center
2000-2008
Kennedy Krieger Institute
1997-2004
Johns Hopkins Hospital
2001
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA include fibroadipose (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, megalencephaly Megalencephaly‐Capillary malformation (MCAP) syndrome. We set out to refine understanding of clinical spectrum natural...
Lipid exchange between the endoplasmic reticulum (ER) and peroxisomes is necessary for synthesis catabolism of lipids, trafficking cholesterol, peroxisome biogenesis in mammalian cells. However, how lipids are exchanged these two organelles not understood. In this study, we report that ER-resident VAMP-associated proteins A B (VAPA VAPB) interact with peroxisomal membrane protein acyl-CoA binding domain containing 5 (ACBD5) interaction required to tether together, thereby facilitating lipid...
Mutations in the peroxisome targeting signal (PTS) 1 receptor gene, PEX5, are responsible for complementation group (CG) 2 of biogenesis disorders (PBD). Of two reported patients this CG, cells from PBD018 (homozygous missense mutation N489K) defective import PTS1 proteins into peroxisomes, as expected. However, PBD005 nonsense R390ter) both and PTS2 proteins, suggesting that also mediates PTS2-targeted protein import. To investigate possibility, we characterized PEX5 expression found it...
Homozygous mutations in SLC4A4 , encoding the electrogenic Na + -HCO 3 − cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities. In this study, we report two sisters with pRTA, abnormalities, hemiplegic migraine. Genetic analysis ruled out pathological genes for familial migraine, but identified a homozygous 65-bp deletion (Δ65bp) C terminus of corresponding codon change S982NfsX4. Several heterozygous members family also presented...
Electrophoretic studies of human fetal plasma have demonstrated a protein pattern in which all major fractions are present (1). The site origin these proteins is not known. Presumably they may be synthesized by the mother and merely circulate fetus as result placental transfer, or placenta fetus. gamma globulin level high at birth falls during first weeks life (2). This led to assumption that found
Peroxisome biogenesis disorders (PBD) are a group of conditions caused by partial or generalized defect in peroxisome biogenesis. They encompass two phenotypic groups: 1. the Zellweger spectrum (ZSD) including severe, intermediate and milder forms [previously known respectively as syndrome (ZS), Neonatal Adrenoleukodystrophy (NALD) Infantile Refsum Disease (IRD)] 2. Rhizomelic Chondrodysplasia Punctata type 1 (RCDP1), well variant phenotypes now being described for both groups. PBD represent...
Peroxisome biogenesis disorders (PBDs) are metabolic caused by the loss of peroxisomes. The majority PBDs result from mutation in one 3 genes that encode for peroxisomal AAA ATPase complex (AAA-complex) required cycling PEX5 matrix protein import. Mutations these thought to a defect peroxisome assembly preventing import proteins. However, we show here AAA-complex does not prevent import, but instead causes an upregulation degradation macroautophagy, or pexophagy. function cells results...
PEX7 encodes the cytosolic receptor for set of peroxisomal matrix enzymes targeted to organelle by peroxisome targeting signal 2 (PTS2). Mutations in cause rhizomelic chondrodysplasia punctata (RCDP), a distinct biogenesis disorder. In previous work we described three novel mutant alleles, including one, L292X, with high frequency due founder effect. We have now extended our analysis 60 RCDP probands and identified total 24 accounting 95% genes sample. Of these, 50% are 13% IVS9+1G>C,...
Ethanolamine plasmalogens constitute a group of ether glycerophospholipids that, due to their unique biophysical and biochemical properties, are essential components mammalian cellular membranes. Their importance is emphasized by the consequences defects in plasmalogen biosynthesis, which humans cause fatal disease rhizomelic chondrodysplasia punctata (RCDP). In present lipidomic study, we used fibroblasts derived from RCDP patients, as well brain tissue plasmalogen-deficient mice, examine...