A5002079419- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Biomedical Research and Pathophysiology
- Metabolomics and Mass Spectrometry Studies
- Lysosomal Storage Disorders Research
- Peroxisome Proliferator-Activated Receptors
- Glycogen Storage Diseases and Myoclonus
- Muscle metabolism and nutrition
- Cancer, Hypoxia, and Metabolism
- Biotin and Related Studies
- Carbohydrate Chemistry and Synthesis
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Biochemical Acid Research Studies
- Alcoholism and Thiamine Deficiency
- Blood disorders and treatments
- Child Nutrition and Feeding Issues
- Trypanosoma species research and implications
- Adenosine and Purinergic Signaling
- Neurological and metabolic disorders
- Methemoglobinemia and Tumor Lysis Syndrome
University of California, San Diego
2016-2025
Rady Children's Hospital-San Diego
2007-2020
United States University
2017
UC San Diego Health System
2017
Bioengineering Center
2014
National Center for Genetic Engineering and Biotechnology
2014
John Wiley & Sons (United States)
2014
Pediatrics and Genetics
2008-2013
University of California San Diego Medical Center
2013
National Institutes of Health
2011
Diabetic kidney disease is the leading cause of ESRD, but few biomarkers diabetic are available. This study used gas chromatography-mass spectrometry to quantify 94 urine metabolites in screening and validation cohorts patients with diabetes mellitus (DM) CKD(DM+CKD), DM without CKD (DM–CKD), healthy controls. Compared levels controls, 13 were significantly reduced DM+CKD (P≤0.001), 12 remained significant when compared DM–CKD cohort. Many differentially expressed water-soluble organic...
Excretion of uric acid, a compound considerable medical importance, is largely determined by the balance between renal secretion and reabsorption. The latter process has been suggested to be principally mediated urate transporter 1 (URAT1; slc22a12), but role various putative transporters much debated. We have characterized handling in mice null for RST, murine ortholog URAT1, as well those related organic anion Oat1 Oat3. Expression mRNA other (UAT, MRP2, MRP4, Oatv1) was unaffected...
The "classical" organic anion secretory pathway of the renal proximal tubule is critical for excretion prototypic anion, para-aminohippurate, as well a large number commonly prescribed drugs among other significant substrates. Organic transporter 1 (OAT1), originally identified NKT (Lopez-Nieto, C. E., You, G., Bush, K. T., Barros, E. J. Beier, D. R., and Nigam, S. (1997) Biol. Chem. 272, 6471-6478), has physiological properties consistent with role in this pathway. However, several...
Deficiency of mitochondrial DNA polymerase γ activity was found in a patient with mtDNA depletion and Alpers' syndrome. Metabolic evaluation revealed fasting hypoglycemia, dicarboxylic aciduria, reduced the electron transport chain skeletal muscle. The died early childhood fulminant hepatic failure, refractory epilepsy, lactic acidemia, coma. content 30% normal muscle 25% liver. undetectable. Ann Neurol 1999;45:54–58
We applied untargeted mass spectrometry-based metabolomics to the diseases methylmalonic acidemia (MMA) and propionic (PA).We used a screening platform that untargeted, mass-based of methanol-extracted plasma find significantly different molecular features in human samples from MMA PA patients healthy individuals. Capillary reverse phase liquid chromatography (4 microL/min) was interfaced TOF spectrometer, data were processed using nonlinear alignment software (XCMS) an online database...
In male patients with Fabry disease, an X-linked disorder of glycosphingolipid metabolism caused by deficient activity the lysosomal enzyme alpha-galactosidase A, kidney dysfunction becomes apparent third decade life and invariably progresses to ESRD without treatment. Here, we summarize effects agalsidase alfa on function from three prospective, randomized, placebo-controlled trials their open-label extension studies involving 108 adult patients. The mean baseline GFR among 54...
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) speech/language delay and behavioral problems as the most affected domains was present in 44 participants, additional epilepsy 35 movement disorder 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate protein/arginine restricted diets. The median age at treatment...
Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE (NCT02795676) assessed non-inferiority of pegunigalsidase versus agalsidase beta in adults with Fabry disease an annualised estimated glomerular filtration rate (eGFR) slope more negative than -2 mL/min/1.73 m
Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea-cycle disorder, results in hyperammonemia initiating sequence of adverse events that can lead to coma and death if not treated rapidly. There is high unmet need for an effective therapeutic this especially early neonatal patients where mortality excessive. However, development adeno-associated virus (AAV)-based approach hampered by large cDNA size protein requirement. We developed oversized AAV vector as gene therapy treat CPS1...
We report a family with heterogeneous group of neurologic disorders associated the mitochondrial DNA G8363A transfer ribonucleic acid (RNA) Lys mutation. The phenotype one child in was consistent autism. During his second year life, he lost previously acquired language skills and developed marked hyperactivity toe-walking, abnormal reciprocal social interaction, stereotyped mannerisms, restricted interests, self-injurious behavior, seizures. Brain magnetic resonance imaging (MRI) repeated...
Renal organic anion transporters (OAT) are known to mediate the excretion of many drugs, but their function in normal physiology is not well understood. In this study, mice lacking transporter 3 (Oat3) had a 10 15% lower BP than wild-type mice, raising possibility that Oat3 transports an endogenous regulator BP. The aldosterone response low-salt diet was blunted Oat3-null baseline concentration higher these suggesting dysregulation does fully explain basal state; therefore, both targeted and...
Therapy to slow the relentless expansion of interstitial extracellular matrix that leads renal functional decline in patients with CKD is currently lacking. Because chronic kidney injury increases tissue oxidative stress, we evaluated antifibrotic efficacy cysteamine bitartrate, an antioxidant therapy for nephropathic cystinosis, a mouse model unilateral ureteral obstruction. Fresh (600 mg/kg) was added drinking water daily beginning on day surgery, and outcomes were assessed days 7, 14, 21...
Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity change. Norm-referenced often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, reliability is lower at tails distribution, resulting floor effects and increased measurement error for disorders. In contrast, person ability generated during process constructing a...