A5066054278- Mosquito-borne diseases and control
- Viral Infections and Vectors
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Immune Cell Function and Interaction
- Muscle Physiology and Disorders
- Endoplasmic Reticulum Stress and Disease
- Malaria Research and Control
- Heat shock proteins research
- Neurogenetic and Muscular Disorders Research
- Food Allergy and Anaphylaxis Research
- Child Nutrition and Feeding Issues
- Immune Response and Inflammation
- Parkinson's Disease Mechanisms and Treatments
- Amyotrophic Lateral Sclerosis Research
- Influenza Virus Research Studies
- Virus-based gene therapy research
- Autophagy in Disease and Therapy
- Immunotherapy and Immune Responses
- Mitochondrial Function and Pathology
- Dermatological and Skeletal Disorders
- Sphingolipid Metabolism and Signaling
- Alkaline Phosphatase Research Studies
- Immunodeficiency and Autoimmune Disorders
- Restless Legs Syndrome Research
University of California, Irvine
2017-2025
Case Western Reserve University
2021
UC Irvine Health
2019-2021
Aalto University
2021
Institut Pasteur in Ho Chi Minh City
2018-2020
Nagasaki University
2020
Ambry Genetics (United States)
2019
Kaiser Permanente Anaheim Medical Center
2019
Tampere University
2019
Vaasa Central Hospital
2019
Chaperone-assisted selective autophagy (CASA) is a highly pathway for the disposal of misfolding and aggregating proteins. In muscle, CASA assures muscle integrity by favoring turnover structural components damaged mechanical strain. neurons, promotes removal substrates. A crucial player HSPB8 (heat shock protein family B (small) member 8), which acts in complex with HSPA, their cochaperone BAG3, E3 ubiquitin ligase STUB1. Recently, four novel frameshift (fs) gene mutations have been linked...
Abstract Pompe disease (PD) is a progressive myopathy caused by the aberrant accumulation of glycogen in skeletal and cardiac muscle resulting from deficiency enzyme acid alpha‐glucosidase (GAA). Administration recombinant human GAA as replacement therapy (ERT) works well alleviating manifestations PD but loses sustained benefit ameliorating pathology. The limited efficacy ERT partially attributable to its inability curb new produced synthase 1 (GYS1). Substrate reduction therapies aimed at...
CB-5083 is an inhibitor of p97/valosin-containing protein (VCP), for which phase I trials cancer were terminated because adverse effects on vision, such as photophobia and dyschromatopsia. Lower dose could combat inclusion body myopathy with early-onset Paget disease frontotemporal dementia or multisystem proteinopathy caused by gain-of-function mutations in VCP. We hypothesized that the visual impairment trial was due to CB-5083's inhibition phosphodiesterase (PDE)-6, mediates signal...
We clinically and molecularly characterize a new family with autosomal dominant rimmed vacuolar myopathy (RVM) caused by mutations in the HSPB8 gene.We performed whole-exome whole-genome sequencing family. Western blot immunocytochemistry were used to analyze 3 patient fibroblasts, findings compared their age- sex-matched controls.Affected patients have distal proximal myopathy, muscle biopsy showing vacuoles, fiber atrophy, endomysial fibrosis typical of RVM. Muscle MRI showed severe...
Considerable progress has been made in dengue management, however the lack of appropriate predictors severity led to huge number unwanted admissions mostly decided on grounds warning signs. Apoptosis related mediators, among others, are known correlate with severe (SD) although no predictive validity is established. The objective this study was investigate association plasma cell-free DNA (cfDNA) SD, and evaluate its prognostic value SD prediction at acute phase.This a hospital-based...
<h2>Abstract</h2><h3>Background</h3> Genetic risk factors for dengue hemorrhagic fever/dengue shock syndrome (DHF/DSS) and fever (DF) are limited, in particular there sparse data on genetic across diverse populations. <h3>Methods</h3> We conducted a genome-wide association study (GWAS) derivation validation sample of 7, 460 participants Latin American, South Asian, East Asian ancestries. then developed weighted polygenic score (PRS) each participant the cohorts three ancestries to predict...
Abstract Background Pathogenic gain of function variants in Valosin-containing protein ( VCP ) cause a unique disease characterized by inclusion body myopathy with early-onset Paget bone and frontotemporal dementia (also known as Multisystem proteinopathy (MSP)). Previous studies drosophila models indicate treatment inhibitors mitigates pathology. Earlier-generation display off-target effects relatively low therapeutic potency. New generation needs to be evaluated mouse model disease. In...
Abstract Prader–Willi syndrome (PWS), is a complex genetic disease affecting 1/15,000 individuals, characterized by lack of expression genes on the paternal chromosome 15q11‐q13 region. Clinical features include central hypotonia, poor suck, learning and behavior problems, growth hormone deficiency with short stature, hyperphagia, morbid obesity. Despite significant advances in testing, mean age for diagnosis PWS continues to lag behind. Our goal was perform pilot feasibility study confirm...
Background: The protective or pathogenic role of T lymphocytes during the acute phase dengue virus (DENV) infection has not been fully understood despite its importance in immunity and vaccine development. Objectives: This study aimed to clarify kinetics lymphocyte subsets clinical course patients. Study design: In this hospital-based cohort study, 59 eligible Vietnamese patients were recruited admitted. They investigated monitored for cell a panel laboratory parameters every day until...
Abstract Knock-in homozygote VCPR155H/R155H mutant mice are a lethal model of valosin-containing protein (VCP)-associated inclusion body myopathy associated with Paget disease bone, frontotemporal dementia and amyotrophic lateral sclerosis. Ceramide (d18:1/16:0) levels elevated in skeletal muscle the mice, compared to wild-type controls. Moreover, exposure lipid-enriched diet reverses lethality, improves normalizes ceramide these suggesting that dysfunctions lipid-derived signaling critical...
Pompe disease (PD) is a progressive myopathy caused by the aberrant accumulation of glycogen in skeletal and cardiac muscle resulting from deficiency enzyme acid alpha-glucosidase (GAA). Administration recombinant human GAA as replacement therapy (ERT) works well alleviating manifestations PD but loses sustained benefit ameliorating pathology. The limited efficacy ERT partially attributable to its inability curb new produced synthase 1 (GYS1). Substrate reduction therapies aimed at knocking...
Valosin Containing Protein (VCP) disease is an autosomal dominant multisystem proteinopathy caused by mutations in the VCP gene, and primarily associated with progressive muscle weakness, including atrophy of pelvic shoulder girdle muscles. Currently, no treatments are available cardiac respiratory failures can lead to mortality at early age. AAA ATPase multifunction complex protein gene resulting disrupted autophagic clearance. Due rarity disease, myopathic nature disorder, ethical...
Pompe disease is a progressive myopathy resulting from deficiency in lysosomal enzyme acid α-glucosidase (GAA), which leads to glycogen accumulation lysosomes primarily skeletal and cardiac muscle. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA works well alleviating the cardiomyopathy; however, many patients continue have muscle weakness. The purpose of this study was evaluate effectiveness respiratory training combined 24-week supervised resistance program on strength...