A5027956121- Lysosomal Storage Disorders Research
- Biochemical and Molecular Research
- CRISPR and Genetic Engineering
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Stroke Rehabilitation and Recovery
- Calcium signaling and nucleotide metabolism
- Trypanosoma species research and implications
- Dermatology and Skin Diseases
- Glycosylation and Glycoproteins Research
- Hepatitis Viruses Studies and Epidemiology
- Protein Tyrosine Phosphatases
- Glycogen Storage Diseases and Myoclonus
- Hepatitis B Virus Studies
- Zoonotic diseases and public health
- Adenosine and Purinergic Signaling
- Physiological and biochemical adaptations
- Cancer-related gene regulation
- Congenital Heart Disease Studies
- Cytomegalovirus and herpesvirus research
- Wnt/β-catenin signaling in development and cancer
- Yersinia bacterium, plague, ectoparasites research
- Nuclear Receptors and Signaling
- Neuropeptides and Animal Physiology
- Human-Animal Interaction Studies
Children's Hospital of Orange County
2022-2024
Western University of Health Sciences
2019-2021
University of California, Irvine
2017
Health Canada
2000
Infantile-onset Pompe disease (IOPD) results from pathogenic variants in the
Canine Atopic Dermatitis (AD) is a common complex and multifactorial disease involving immune dysregulation, genetic predisposition, skin barrier defects, environmental factors allergic sensitization. To date, diagnosis of canine AD relies on combination patient history, clinical examination, allergy testing response to diet trials/therapies with no reliable biomarkers available distinguish from other diseases similar presentations. A handful studies identify potential in the peripheral...
Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the SLC17A5 gene, which encodes lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out lysosome, leading to cellular dysfunction and neurological impairment, with most severe form FSASD resulting death during early childhood. There are currently no therapies for FSASDs. Here, we evaluated efficacy CRISPR-Cas9-mediated homology directed repair (HDR) adenine base editing...
Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant, the most frequent GAA pathogenic mutation people Southern Han Chinese ancestry, causes infantile-onset disease (IOPD), presenting neonatally with severe hypertrophic cardiomyopathy, profound muscle hypotonia, respiratory failure, infantile mortality. We...
Pompe disease is an autosomal recessive lysosomal storage caused by pathogenic variants in GAA, which encodes enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary evaluate the efficacy of genotype-specific therapies. Dermal fibroblasts from two patients presenting clinically with were reprogrammed induced pluripotent stem cells using Sendai viral method. One patient compound heterozygous for c.258dupC (p.N87QfsX9) frameshift mutation and...
Abstract Pompe disease (PD) is an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), leading to reduced degradation and subsequent accumulation of intra-lysosomal glycogen in tissues, especially skeletal oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant the most frequent GAA pathogenic mutation people Taiwanese Southern Chinese ethnicity, causing infantile-onset PD (IOPD), which presents neonatally with severe hypertrophic cardiomyopathy,...
Abstract Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant, the most frequent GAA pathogenic mutation people Taiwanese Southern Chinese ethnicity, causes infantile-onset disease (IOPD), presenting neonatally with severe hypertrophic cardiomyopathy, profound muscle hypotonia, respiratory failure,...