A5043146616- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- Mitochondrial Function and Pathology
- Adipose Tissue and Metabolism
- CRISPR and Genetic Engineering
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Advanced biosensing and bioanalysis techniques
- Folate and B Vitamins Research
- RNA and protein synthesis mechanisms
- Biochemical and Molecular Research
- Biomedical Research and Pathophysiology
- Metabolism, Diabetes, and Cancer
- Carbohydrate Chemistry and Synthesis
- Lipid metabolism and biosynthesis
- Analytical chemistry methods development
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Effects and risks of endocrine disrupting chemicals
- Frailty in Older Adults
- Family and Patient Care in Intensive Care Units
- Muscle metabolism and nutrition
- Intravenous Infusion Technology and Safety
Centre Hospitalier Universitaire de Sherbrooke
2009-2024
Université de Sherbrooke
2000-2024
Washington University in St. Louis
2008
Royal Alexandra Hospital
2006
Centre Hospitalier Universitaire Sainte-Justine
1993
Université de Montréal
1993
Medical University of South Carolina
1980
A decline in mitochondrial respiration represents the root cause of a large number inborn errors metabolism. It is also associated with common age-associated diseases and aging process. To gain insight into systemic, biochemical consequences respiratory chain dysfunction, we performed case-control, prospective metabolic profiling study genetically homogenous cohort patients Leigh syndrome French Canadian variant, disease due to loss-of-function mutations LRPPRC. We discovered 45 plasma...
Targeting definite genomic locations using CRISPR-Cas systems requires a set of enzymes with unique protospacer adjacent motif (PAM) compatibilities. To expand this repertoire, we engineered nucleases, cytosine base editors, and adenine editors from the archetypal
During the fasting state, insulin reduces nonesterified fatty acid (NEFA) appearance in systemic circulation mostly by suppressing intracellular lipolysis adipose tissue. In postprandial may also control NEFA through enhanced trapping into tissue of derived from intravascular triglyceride lipolysis. To determine contribution suppression modulation plasma metabolism during lipolysis, 10 healthy nonobese subjects underwent pancreatic clamps at vs. high physiological level with intravenous...
Abstract Context: Abnormal plasma nonesterified fatty acid (NEFA) metabolism may play a role in the development of type 2 diabetes. Objectives: Our objectives were to demonstrate whether there is defect insulin-mediated suppression NEFA appearance (RaNEFA) and oxidation (OxNEFA) during enhanced intravascular triacylglycerol lipolysis early natural history diabetes, if so, determine other mechanisms than reduced intracellular are involved. Design: These cross-sectional studies. Setting: The...
Ethylmalonic encephalopathy is a recently described inborn error of metabolism characterized clinically by developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, chronic diarrhea. We describe monochorionic twins presenting with hypotonia in infancy diagnosed ethylmalonic on the basis biochemical findings. They are compound heterozygote for missense mutations ETHE1. Magnetic resonance imaging changes affecting white matter, corpus callosum, basal ganglia were seen...
A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency fumarylacetoacetate hydrolase (FAH). Newborns with HT1 are usually clinically asymptomatic but show liver dysfunction coagulation abnormalities (prolonged prothrombin time and/or international normalised ratio). Early treatment nitisinone (NTBC) plus dietary restriction tyrosine and phenylalanine prevents the complications...
Dried blood spot succinylacetone (SA) is often used as a biomarker for newborn screening (NBS) tyrosinemia type 1 (TT1). However, false-positive SA results are observed. Elevated may also be due to maleylacetoacetate isomerase deficiency (MAAI-D), which appears clinically insignificant. This study investigated whether urine organic acid (uOA) and quantitative maleic (Q-uMA) analyses can distinguish between TT1 MAAI-D. We reevaluated/measured uOA (GC-MS) and/or Q-uMA (LC-MS/MS) in available...
The effects of 5-hydroxytryptamine (5-HT) and its specific antagonist, methylsergide hydrogenmaleinate, on in vitro glucose uptake by Hymenolepis diminuta were followed for up to 60 min. Maximum stimulation occurred with 0.5 mM 5-HT. With the addition 10 methysergide (MET) decreased 68%. Glucose was greatest anterior, immature region worm strobila, diminished through middle posterior gravid portion strobila. 5-HT significantly increased all three regions. 3 MET eliminated stimulatory action...
Insulin increases plasma nonesterified fatty acid (NEFA) clearance in humans, but whether this is independent of change NEFA appearance currently unknown. Nine nondiabetic men (age: 28 ± 3 yr, body mass index: 27.2 1.7 kg/m 2 ) underwent euglycemic clamps to maintain low (LINS) vs. high (HINS) physiological insulin levels for 6 h. An intravenous infusion heparin + Intralipid (HI) was performed during 4 the h (in last at LINS and first HINS), whereas saline (SAL) administered remaining...
The abbreviation used is: DiS-C:,-(5), 3,3'-dipropyl-2,2'-thiadicarbocyanine.Raising the temperature of K' loaded preparation from 5" to 37°C reduced pH 6.5 due sensitivity Tris as a buffer.Subsequent addition suspension reaction medium raised extravesicular back 7.4.Thus, intravesicular was assumed reside between and 7.4 for experiments reported in this study.
Abstract Context: Increased plasma nonesterified fatty acid (NEFA) appearance during enhanced intravascular triacylglycerol (TG) lipolysis is a marker of metabolic adipose tissue dysfunction and may lead to the development insulin resistance. The relationship between total high molecular weight (HMW) adiponectin levels, NEFA appearance, TG lipolytic capacity has not been previously studied in humans. Objectives: Our objective was determine whether HMW levels are associated with level rate...
A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis hepatorenal tyrosinemia (HT1, MIM 276700). HT1 caused by mutations FAH gene, resulting deficiency fumarylacetoacetate hydrolase. newborns are usually clinically asymptomatic, but have coagulation abnormalities revealing liver dysfunction. Treatment with nitisinone (NTBC) plus dietary restriction tyrosine phenylalanine prevents complications HT1.Two screened positive SA had normal...
Abstract Background HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2‐methyl‐3‐hydroxybutyryl‐CoA dehydrogenase (MHBD), is rare X‐linked disorder moonlighting protein encoded by the HSD17B10 . The diagnosis usually first suspected on finding elevated isoleucine degradation metabolites in urine, reflecting decreased MHBD activity. However, it now known that clinical pathogenesis reflects other independent functions protein; particularly its essential role...
The only genetic metabolic disorder clearly linked thus far to sudden infant death syndrome (SIDS) is medium-chain acylcoenzyme A dehydrogenase (MCAD) deficiency. There has been no evidence for an association between SIDS and other hereditary disorders. few studies, which were often carried out retrospectively on single subjects, have involved the measurement of various metabolites including organic acids, carnitine, free amino enzymes implicated in oxidation fatty these not inborn errors...
Targeting definite genomic locations using CRISPR-Cas systems requires a set of enzymes with unique protospacer adjacent motif (PAM) compatibilities. To expand this repertoire, we engineered nucleases, cytosine base editors, and adenine editors from the archetypal Streptococcus thermophilus CRISPR1-Cas9 (St1Cas9) system. We found that St1Cas9 strain variants enable targeting to five distinct A-rich PAMs provide structural basis for their specificities. The small size ortholog enables...