A5039309798- Cardiac electrophysiology and arrhythmias
- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Congenital Heart Disease Studies
- Coenzyme Q10 studies and effects
- Pancreatic function and diabetes
- Cardiac Structural Anomalies and Repair
- Cardiovascular Function and Risk Factors
- Cardiac Valve Diseases and Treatments
- Biochemical Acid Research Studies
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- 14-3-3 protein interactions
- Health Systems, Economic Evaluations, Quality of Life
- Peroxisome Proliferator-Activated Receptors
- Congenital heart defects research
- Sirtuins and Resveratrol in Medicine
- Peptidase Inhibition and Analysis
- Cellular transport and secretion
- Metabolism and Genetic Disorders
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
- Viral Infections and Immunology Research
- Metabolism, Diabetes, and Cancer
Stanford University
2021-2024
The University of Texas at Austin
2024
Lunenfeld-Tanenbaum Research Institute
2023
University of Wisconsin–Madison
2014-2021
Lucile Packard Children's Hospital
2021
Morgridge Institute for Research
2016-2020
Stanford Medicine
2020
Lysine acetylation is rapidly becoming established as a key post-translational modification for regulating mitochondrial metabolism. Nonetheless, distinguishing regulatory sites from among the thousands identified by mass spectrometry and elucidating how these modifications alter enzyme function remain primary challenges. Here, we performed multiplexed quantitative to measure changes in mouse liver acetylproteome response acute chronic alterations nutritional status, integrated data sets...
We previously positionally cloned Sorcs1 as a diabetes quantitative trait locus. belongs to the Vacuolar protein sorting-10 (Vps10) gene family. In yeast, Vps10 transports enzymes from trans-Golgi network (TGN) vacuole. Whole-body KO mice, when made obese with leptin(ob) mutation (ob/ob), developed diabetes. β Cells these mice had severe deficiency of secretory granules (SGs) and insulin. Interestingly, single secretagogue challenge failed consistently elicit an insulin dysfunction. However,...
Deficiency of the serine hydrolase prolyl endopeptidase-like (PREPL) causes a recessive metabolic disorder characterized by neonatal hypotonia, feeding difficulties, and growth hormone deficiency. The pathophysiology PREPL deficiency physiological substrates remain largely unknown. In this study, we connect with mitochondrial gene expression oxidative phosphorylation analyzing its protein interactors. We demonstrate that long PREPLL isoform localizes to mitochondria, whereas PREPLS remains...
Abstract We report three unrelated probands, two male and one female, diagnosed with Aicardi‐Goutières syndrome (AGS) after screening positive on California newborn (CA NBS) for X‐linked adrenoleukodystrophy (X‐ALD) due to elevated C26:0 lysophosphatidylcholine (C26:0‐LPC). Follow‐up evaluation was notable C26:0, C26:1, C26:0/C22:0 ratio, normal red blood cell plasmalogens levels in all probands. Diagnoses were confirmed by molecular sequencing prior 12 months of age clinical inconsistent...
BACKGROUND: Brugada syndrome is an inheritable arrhythmia condition that associated with rare, loss-of-function variants in SCN5A . Interpreting the pathogenicity of missense challenging, and ≈79% ClinVar are currently classified as uncertain significance. Automated patch clamp technology enables high-throughput functional studies ion channel can provide evidence for variant reclassification. METHODS: An vitro –Brugada automated assay was independently performed at Vanderbilt University...
The carboxy-terminal domain (CTD) of RNA Polymerase II (RNA Pol II) serves as a binding platform for the recruitment proteins which regulate progression transcription. Tandem heptad repeats consensus sequence YSPTSPS make up CTD II. Five seven residues in repeat - Tyr1, Ser2, Thr4, Ser5, and Ser7 – contain hydroxyl group that is subject to posttranslational modification (PTM) by phosphorylation. Previous literature has shown Thr4 phosphorylation (pThr4), not well characterized other PTMs,...
The C-terminal domain (CTD) of human RNA polymerase II (Pol II) is dynamically phosphorylated at every stage transcription, promoting, or deterring the binding protein complexes. Within 52 repetitive heptads composing CTD, five seven residues are able to be phosphorylated. However, class proteins recruited by threonine-4 phosphorylation unclear and its function in regulating transcription remains enigmatic. We performed ChIP-seq analysis pThr4 Pol alongside treatment with Ssu72, a...
While genetic testing is becoming mainstream in the management of patients with potentially inherited cardiovascular disease, prevalence uncertain results severely limits its utility. One promising approach to generate variant effect maps that report function all possible variants a gene prospectively. The proactive clinical application these nascent, and it requires careful integration current American College Medical Genetics guidelines for interpretation. Here, we describe three pediatric...
Abstract Background Congenital heart disease (CHD) represents a significant contributor to both morbidity and mortality in neonates children. The prompt recognition of CHD can facilitate timely appropriate intervention, reducing the probability complications enhancing prognosis for impacted newborns. However, unlike other rare conditions routinely identified through federal state newborn screening (NBS) programs, there’s currently no analogous dried blood spot (DBS) immediately after birth....
While genetic testing is becoming standard of care for patients with potentially inherited cardiovascular disease, the prevalence uncertain results severely limits its utility. One promising approach to generate variant effect maps that report function all possible variants in a gene prospectively. The proactive clinical application these nascent, and requires careful integration current American College Medical Genetics guidelines interpretation. Here, we describe three pediatric cases...
Abstract Brugada Syndrome (BrS) is an inheritable arrhythmia condition that associated with rare, loss-of-function variants in the cardiac sodium channel gene, SCN5A . Interpreting pathogenicity of missense challenging and ∼79% ClinVar are currently classified as Variants Uncertain Significance (VUS). An vitro -BrS automated patch clamp assay was generated for high-throughput functional studies Na V 1.5. The independently studied at two separate research sites – Vanderbilt University Medical...