A5087831262- Multiple Sclerosis Research Studies
- Neurogenesis and neuroplasticity mechanisms
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- NF-κB Signaling Pathways
- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Climate Change and Health Impacts
- Mitochondrial Function and Pathology
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Lymphoma Diagnosis and Treatment
- Polyomavirus and related diseases
- Skin and Cellular Biology Research
- Toxin Mechanisms and Immunotoxins
- Ubiquitin and proteasome pathways
- Cerebrovascular and genetic disorders
- Colorectal and Anal Carcinomas
- Air Quality and Health Impacts
- DNA Repair Mechanisms
- Acute Lymphoblastic Leukemia research
- Gastric Cancer Management and Outcomes
- Peripheral Neuropathies and Disorders
- Mycobacterium research and diagnosis
- Neurological diseases and metabolism
- Atherosclerosis and Cardiovascular Diseases
University of California, San Francisco
2021-2024
University of California, Irvine Medical Center
2024
Center for Neurosciences
2023
Agency for Science, Technology and Research
2017-2022
National University of Singapore
2019-2020
Shahid Beheshti University of Medical Sciences
2019
Jinan University
2019
Isfahan University of Medical Sciences
2019
Royan Institute
2015
Academic Center for Education, Culture and Research
2015
Highlights•A CRISPR-Cas9 and PiggyBac-based approach allows efficient correction of HD hiPSCs•The corrected hiPSCs can be differentiated into synaptically active neurons•Correction gene mutation reverses a number phenotypic abnormalities•Isogenic help distinguish from genetic background-related effectsSummaryHuntington disease (HD) is dominant neurodegenerative disorder caused by CAG repeat expansion in HTT. Here we report human induced pluripotent stem cells (hiPSCs) using piggyBac...
In Huntington disease (HD), the analysis of tissue-specific CAG repeat length effects has been challenging, given difficulty in obtaining relevant patient tissues with a broad range lengths. We used genome editing to generate an allelic panel isogenic HD (IsoHD) human embryonic stem cell (hESC) lines carrying varying lengths first exon HTT. Functional analyses differentiated neural cells revealed length-related abnormalities mitochondrial respiration and oxidative stress enhanced...
Myelin oligodendrocyte glycoprotein (MOG)-IgG is increasingly detected in children with CNS demyelinating diseases. Due to the clinical overlap demyelination and without MOG-IgG positivity, identifying distinct characteristics would help early diagnosis.
Abstract Ermin is an actin‐binding protein found almost exclusively in the central nervous system (CNS) as a component of myelin sheaths. Although has been predicted to play role formation and stability sheaths, this not directly examined vivo. Here, we show that essential for sheath integrity normal saltatory conduction. Loss mice caused de‐compacted fragmented sheaths led slower conduction along with progressive neurological deficits. RNA sequencing corpus callosum, largest white matter...
Background We previously reported an association between household chemical exposures and increased risk of paediatric-onset multiple sclerosis. Methods Using a case–control paediatric sclerosis study, gene–environment interaction exposure to chemicals genotypes for was estimated. Genetic factors interest included the two major HLA factors, presence DRB1*15 absence A*02, variants within metabolic pathways common toxic chemicals, including IL-6 (rs2069852), BCL-2 (rs2187163) NFKB1...
We previously reported a relationship between air pollutants and increased risk of pediatric-onset multiple sclerosis (POMS). Ozone is an pollutant that may play role in (MS) pathoetiology.
Serum neurofilament light chain (sNfL) is an emerging multiple sclerosis (MS) biomarker which measures neuro-axonal damage. However, understanding its temporal association with disease activity in pediatric-onset MS (POMS) and Myelin oligodendrocyte glycoprotein antibody-associated (MOGAD) remains limited.To investigate the of sNfL levels time from children MOGAD.POMS MOGAD cases onset before 18 years age were enrolled at University California San Francisco (UCSF) Regional Pediatric Center....
Background and Objective: Prior Epstein–Barr virus (EBV) infection is associated with an increased risk of pediatric-onset multiple sclerosis (POMS) adult-onset (MS). It has been challenging to elucidate the biological mechanisms underlying this association. We examined interactions between candidate human leukocyte antigen (HLA) non-HLA variants childhood EBV as it may provide mechanistic insights into EBV-associated MS. Methods: Cases controls were enrolled in Environmental Genetic Risk...
To investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions.The patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting.All showed clinical manifestations ataxia, behavioral mood changes, premature hair loss, memory lower back pain. In addition, they presented with inflammatory-like features recurrent rhinitis. MRI abnormal...
ABSTRACT Ermin is an actin-binding protein found almost exclusively in the central nervous system (CNS) as a component of myelin sheaths. Although has been predicted to play role formation and stability sheaths, this not directly examined vivo . Here we show that essential for sheath integrity normal saltatory conduction. Loss mice caused de-compacted fragmented sheaths led slower conduction along with progressive neurological deficits. RNA sequencing corpus callosum, largest white matter...