A5082302848- Metabolism and Genetic Disorders
- Biochemical Acid Research Studies
- Biochemical and Molecular Research
- Mitochondrial Function and Pathology
- Adenosine and Purinergic Signaling
- Porphyrin Metabolism and Disorders
- ATP Synthase and ATPases Research
- Enzyme Structure and Function
- Genomics and Rare Diseases
- Protein Kinase Regulation and GTPase Signaling
- Adipose Tissue and Metabolism
- Hemoglobin structure and function
- RNA regulation and disease
- Protein Interaction Studies and Fluorescence Analysis
- Connective tissue disorders research
- Ion channel regulation and function
- Peptidase Inhibition and Analysis
- Pediatric health and respiratory diseases
- AI in cancer detection
- Nuclear Receptors and Signaling
- Menstrual Health and Disorders
- Parathyroid Disorders and Treatments
- Asthma and respiratory diseases
- Diet and metabolism studies
- Pharmacological Effects and Toxicity Studies
St. George's University
2016-2023
University of Leicester
2023
St. Matthew's University
2023
University of Toronto
2008-2014
Hospital for Sick Children
2004-2010
SickKids Foundation
2008
McMaster University
2000-2002
Brock University
1996-1998
Mutations in the PTEN-induced kinase 1 (PINK1) gene have recently been implicated autosomal recessive early onset Parkinson Disease (1, 2). To investigate role of PINK1 neurodegeneration, we designed human and murine neuronal cell lines expressing either wild-type or bearing a mutation associated with Disease. We show that under basal staurosporine-induced conditions, number terminal deoxynucleotidyltransferase-mediated dUTP nick end labeling (TUNEL)-positive cells was lower SH-SY5Y than...
Mice homozygous for a defect in the PTCD2 (pentatricopeptide repeat domain protein 2) gene were generated order to study role of this mitochondrial RNA metabolism. These mice displayed specific but variable reduction ubiquinol-cytochrome c reductase complex activity mitochondria heart, liver and skeletal muscle due decrease expression DNA-encoded cytochrome b, catalytic core complex. This function has profound effect on myocardium, with replacement ventricular cardiomyocytes by fibro-fatty...
Abstract Context: Pyruvate dehydrogenase phosphatase (PDP) deficiency has been previously reported as an enzymopathy, but the genetic basis for such a defect never established. Objective: The aim of this study was to identify cause in two patients who presented with PDP deficiency. Patients: We studied brothers consanguineous parents neonatal hypotonia, elevated lactate, and less than 25% native pyruvate complex (PDHc) activity skin fibroblasts compared controls. could be restored normal...
Orexins/hypocretins are neuropeptides formed by proteolytic cleavage of a precursor peptide, which produced neurons found in the lateral hypothalamus. The G protein-coupled receptors (GPCRs) for these ligands, OX1 and OX2 orexin receptors, more widely expressed throughout central nervous system. orexin/hypocretin system has been implicated many pathways, its dysregulation is under investigation number diseases. Disorders orexinergic mechanisms being investigated include narcolepsy,...
The catalytic activity of adenosine kinase (AK) from mammalian sources has previously been shown to exhibit a marked dependency upon the presence pentavalent ions (PVI), such as phosphate (PO4), arsenate, or vanadate. We now show that AK diverse sources, including plant, yeast, and protist species, is also markedly enhanced in PVI. In all cases, PO4 other PVI exerted their effects primarily by decreasing Km for alleviating inhibition caused high concentrations substrates. These results...
Bioenergetic failure is a feature of Alzheimer's disease (AD). We examined mitochondrial function in the amyloid-β protein precursor transgenic 'TgCRND8' mouse model AD. Activities NADH: cytochrome c reductase (complex I + III) and o
(1) Background: Hyperphosphatemia is correlated with an increased rate of mortality and morbidity due to cardiovascular diseases in chronic kidney disease (CKD) patients. It can be improved by restricting dietary intake phosphate oral binders, such as lanthanum carbonate sevelamer carbonate. (2) Objective: To evaluate the clinical efficacy comparison binders for treatment hyperphosphatemia CKD (3) Methods: A randomized control comparative study was conducted one year on 150 patients...
SYNJ1 encodes Synaptojanin-1, a dual-function poly-phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic variants cause spectrum of clinical manifestations, from early onset parkinsonism developmental and epileptic encephalopathy.Proband-only exome sequencing was used identify homozygous pathogenic variant an individual with encephalopathy. Sanger confirm variant.We present Afro-Caribbean female who developed uncontrollable...
Key Clinical Message A 1‐year‐old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers‐Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows state‐of‐the‐art cardiac monitoring appropriate symptomatic treatment rare disease.