A5041042540- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Ubiquitin and proteasome pathways
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Genomics and Rare Diseases
- Congenital heart defects research
- Mitochondrial Function and Pathology
- Cerebrovascular and genetic disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Hippo pathway signaling and YAP/TAZ
- Sphingolipid Metabolism and Signaling
- Hereditary Neurological Disorders
- RNA modifications and cancer
- Endoplasmic Reticulum Stress and Disease
- Protein Kinase Regulation and GTPase Signaling
- RNA Research and Splicing
- Neurological diseases and metabolism
- Metalloenzymes and iron-sulfur proteins
- CRISPR and Genetic Engineering
- Mosquito-borne diseases and control
- Autophagy in Disease and Therapy
- Cancer-related molecular mechanisms research
- Fetal and Pediatric Neurological Disorders
- Heat shock proteins research
Neurological Research Institute
2021-2024
Texas Children's Hospital
2021-2024
Baylor College of Medicine
2021-2024
Center for Excellence in Brain Science and Intelligence Technology
2018-2022
Chinese Academy of Sciences
2016-2022
Baylor University
2022
Howard Hughes Medical Institute
2022
University of Chinese Academy of Sciences
2018-2019
Shanghai Institutes for Biological Sciences
2016-2019
Parkinson's disease (PD) is characterized by a chronic loss of dopaminergic neurons and the presence proteinaceous inclusions (Lewy bodies) within some remaining in substantia nigra. Recently, astroglial inclusion body has also been found neurodegenerative diseases including PD. However, underlying molecular mechanisms how protein aggregation forms remain largely unknown. Here, we investigated contribution αB-crystallin (CRYAB), small heat shock protein, α-synuclein formation astrocytes....
Cerebellar hypoplasia and dysplasia encompass a group of clinically genetically heterogeneous disorders frequently associated with neurodevelopmental impairment. The Neuron Navigator 2 (NAV2) gene (MIM: 607,026) encodes member the protein family, widely expressed within central nervous system (CNS), particularly abundant in developing cerebellum. Evidence across different species supports pivotal function NAV2 cytoskeletal dynamics neurite outgrowth. Specifically, deficiency Nav2 mice leads...
SUPT16H encodes the large subunit of FAcilitate Chromatin Transcription (FACT) complex, which functions as a nucleosome organizer during transcription. We identified two individuals from unrelated families carrying de novo missense variants in SUPT16H. The probands exhibit global developmental delay, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities. used Drosophila to characterize variants: p.T171I p.G808R. Loss fly ortholog, dre4, causes lethality at...
Astrocyte activation is associated with progressive inflammatory demyelination in multiple sclerosis (MS). The molecular mechanisms underlying astrocyte remain incompletely understood. Recent studies have suggested that classical neurotransmitter receptors are implicated the modulation of brain innate immunity. We investigated role dopamine signaling process activation. Here, we show upregulation D2 receptor (DRD2) reactive astrocytes MS and noncanonical astrocytic DRD2 pathogenesis. Mice...
The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. Robo family proteins controls midline crossing commissural neurons during development flies. Mono- and bi-allelic variants human ROBO1 (HGNC: 10249) have been associated with incomplete penetrance variable expressivity for a breath phenotypes, including neurodevelopmental defects such as strabismus, pituitary defects, intellectual impairment, well heart...
Development of effective therapies against SARS-CoV-2 infections relies on mechanistic knowledge virus-host interface. Abundant physical interactions between viral and host proteins have been identified, but few functionally characterized. Harnessing the power fly genetics, we develop a comprehensive Drosophila COVID-19 resource (DCR) consisting publicly available strains for conditional tissue-specific expression all encoded proteins, UAS-human cDNA transgenic lines encoding established...
Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and endoplasmic reticulum stress. Variants gene are associated with developmental epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy, movement abnormalities, global delay, intellectual disability, seizures. DEE44 is caused at least 12 different missense variants described as loss function (LoF), but relationships between genotypes molecular or...
Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes. PLCG1 encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of are observed multiple cancers, but only one germline variant has been reported. Here we describe three unrelated individuals with de novo heterozygous missense variants (p.Asp1019Gly, p.His380Arg,...
Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and ER stress. Variants gene are associated with developmental epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy, movement abnormalities, global delay, intellectual disability, seizures. DEE44 is caused at least twelve different missense variants described as loss function (LoF), but relationships between genotypes molecular or clinical...
Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and endoplasmic reticulum stress. Variants gene are associated with developmental epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy, movement abnormalities, global delay, intellectual disability, seizures. DEE44 is caused at least 12 different missense variants described as loss function (LoF), but relationships between genotypes molecular or...
Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes. PLCG1 encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of are observed multiple cancers, but only one germline variant has been reported. Here we describe three unrelated individuals with de novo heterozygous missense variants (p.Asp1019Gly, p.His380Arg,...