A5001507786- Polyamine Metabolism and Applications
- Amino Acid Enzymes and Metabolism
- Cannabis and Cannabinoid Research
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Digestive system and related health
- Infant Nutrition and Health
- RNA modifications and cancer
- Calpain Protease Function and Regulation
- Muscle Physiology and Disorders
- Muscle metabolism and nutrition
- Metabolism and Genetic Disorders
- Pancreatic function and diabetes
- Spaceflight effects on biology
- Diet and metabolism studies
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Amyotrophic Lateral Sclerosis Research
- Biochemical and Molecular Research
- Cardiovascular and exercise physiology
- Injury Epidemiology and Prevention
- Thyroid Disorders and Treatments
- Pediatric health and respiratory diseases
- Acute Lymphoblastic Leukemia research
- ATP Synthase and ATPases Research
- Pharmacological Effects of Natural Compounds
Institute for Exercise and Environmental Medicine
2008-2019
Presbyterian Hospital
2014-2019
The University of Texas Southwestern Medical Center
1998-2019
Texas Health Dallas
1999-2017
University of Liège
1987-1998
Physiol (Belgium)
1989-1996
UCLouvain
1994
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression mtDNA-encoded genes, caused mutations either or nuclear genome, represents rapidly growing group human disorders. By whole-exome sequencing, we identified two unrelated individuals carrying compound heterozygous variants TRMT5 (tRNA methyltransferase 5). encodes protein with strong homology...
Complex I deficiency is the most common biochemical phenotype observed in individuals with mitochondrial disease. With 44 structural subunits and over 10 assembly factors, it unsurprising that complex associated clinical genetic heterogeneity. Massively parallel sequencing (MPS) technologies including custom, targeted gene panels or unbiased whole-exome (WES) are hugely powerful identifying underlying defect a diagnostic setting, yet many remain without diagnosis. These might harbor...
Mutations in the non-lysosomal cysteine protease calpain-3 cause autosomal recessive limb girdle muscular dystrophy. Pathological mechanisms occurring this disease have not yet been elucidated. Here, we report both morphological and biochemical evidence of mitochondrial abnormalities knockout (C3KO) muscles, including irregular ultrastructure distribution mitochondria. The C3KO muscles are associated with reduced vivo ATP production as measured by 31 P magnetic resonance spectroscopy....
Single, large-scale deletions in mitochondrial DNA (mtDNA) are a common cause of disease. This study aimed to investigate the relationship between genetic defect and molecular phenotype improve understanding pathogenic mechanisms associated with single, mtDNA skeletal muscle.
Exposure to microgravity causes functional and structural impairment of skeletal muscle. Current exercise regimens are time-consuming insufficiently effective; an integrated countermeasure is needed that addresses musculoskeletal along with cardiovascular health. High-intensity, short-duration rowing ergometry supplemental resistive strength may achieve these goals. Twenty-seven healthy volunteers completed 5 wk head-down-tilt bed rest (HDBR): 18 were randomized exercise, 9 remained...
G93A SOD1 transgenic mice overexpressing CCS protein develop an accelerated disease course that is associated with enhanced mitochondrial pathology and increased localization of mutant SOD1. Because these results suggest effect on function, we assessed the enzymatic activities respiratory chain complexes in spinal cords CCS/G93A control mice. mouse cord demonstrates a 55% loss complex IV (cytochrome c oxidase) activity compared from age-matched non-transgenic or In contrast, shows no...
Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 ( CAPN3 ) gene. Our previous data suggest that helps maintain integrity of triad complex skeletal muscle. In Capn3 knock-out mice (C3KO), Ca 2+ release and /calmodulin kinase II (CaMKII) signaling are attenuated. We hypothesized calpainopathy may result from a failure transmit loading-induced -mediated signals, necessary up-regulate expression muscle adaptation genes. To test this hypothesis, we compared...
Carbon-13 magnetic resonance spectroscopy (13C MRS) offers a noninvasive method to assess glycogen levels in skeletal muscle and identify excess accumulation patients with storage disease (GSD). Despite the clinical potential of method, it is currently not widely used for diagnosis or follow-up treatment. While possible perform acceptable 13C MRS at lower fields, low natural abundance inherently signal-to-noise ratio makes desirable utilize advantage increased signal strength offered by...
Long-term rehabilitative strategies are important for individuals with well-healed burn injuries. Such information is particularly critical because patients routinely surviving severe injuries given medical advances in the acute care setting. The purpose of this study was to test hypothesis that a 6-mo community-based exercise training program will increase maximal aerobic capacity (V̇o2max) subjects prior injuries, extent influenced by severity injury (i.e., percent body surface area...
Abstract Design: Qualitative case study and mathematical model. Setting: Belgium. Objectives: To evaluate the correlation between polyamine mean concentration of milk drunk during first postnatal month appearance allergy in children who drank this milk. Results: A model that describes dependence with spermine was established. Conclusions: This shows 5.02 nmol ml −1 is a critical value to prevent allergy.
Ornithine decarboxylase (ODC), a regulatory enzyme of polyamine biosynthesis, is involved in cell growth and differentiation. Lack information about the exact cellular subcellular localization ODC one main obstacles to precise interpretation biological roles ODC/polyamine system. Here we describe development optimization an immunocytochemical method detect cells tissues. For this purpose monoclonal antibody (MP16-2) against defined epitope protein was developed. Specificity for substantiated...
We questioned whether polyamines coming from the diet or produced by intestinal microflora intracellular metabolism influence functions. Therefore, we compared pathogen-free rats and germ-free receiving a with low polyamine content either treated not difluoromethylornithine (DFMO) and/or methylglyoxal bis (guanylhydrazone) (MGBG). Wet weight, protein content, DNA sucrase (EC3.2.1.48), maltase (EC 3.2.1.20) lactase 3.2.1.23) specific activities, amounts of putrescine, spennidine spemine were...
OBJECTIVE: To review patients referred with the diagnosis of muscle phosphofructokinase (PFK) deficiency that proved to be incorrect and identify potential mechanisms artifactual loss enzyme activity lead misdiagnosis. BACKGROUND: Muscle PFK is a rare genetic disorder impairing rate limiting step glycolysis. This results in life-long exercise intolerance exercise-induced weakness, contractures myoglobinuria, associated partial defect red blood cells. However, labile often mistakenly...