A5042038376- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Alzheimer's disease research and treatments
- Parkinson's Disease Mechanisms and Treatments
- Bioactive natural compounds
- Cellular transport and secretion
- Chemical synthesis and alkaloids
- Psychedelics and Drug Studies
- Natural product bioactivities and synthesis
- Biochemical Analysis and Sensing Techniques
- ATP Synthase and ATPases Research
- Neurogenesis and neuroplasticity mechanisms
- DNA Repair Mechanisms
- Melanoma and MAPK Pathways
- Metabolism and Genetic Disorders
- interferon and immune responses
- Lipid Membrane Structure and Behavior
- Dementia and Cognitive Impairment Research
- Nuclear Structure and Function
- Bioactive Compounds and Antitumor Agents
- Medicinal Plants and Bioactive Compounds
- Neuroscience and Neuropharmacology Research
- Protein Tyrosine Phosphatases
- Medicinal Plants and Neuroprotection
University of Calgary
2021-2025
Alberta Children's Hospital
2021-2022
Tokyo Metropolitan University
2014-2021
Chosun University
2012-2014
Seoul National University
2014
Pathogenic variants in the mitochondrial protein MFN2 are typically associated with a peripheral neuropathy phenotype, but can also cause variety of additional pathologies including myopathy. Here, we identified an uncharacterized variant, Q367H, patient diagnosed late-onset distal myopathy, without neuropathy. Supporting hypothesis that this variant contributes to patient’s pathology, fibroblasts and transdifferentiated myoblasts showed changes consistent impairment several functions. We...
The psychedelic prodrug psilocybin has shown therapeutic benefits for the treatment of numerous psychiatric conditions. Despite positive clinical end points targeting depression and anxiety, concerns regarding duration experience produced by psilocybin, associated with enduring systemic exposure to active metabolite psilocin, pose a barrier its application. Our objective was create novel psilocin similar but reduced effects compared psilocybin. Here, we report synthesis functional screening...
<ns3:p><ns3:bold>Background: </ns3:bold>Pathogenic variants in <ns3:italic>MFN2</ns3:italic> cause Charcot-Marie-Tooth disease (CMT) type 2A (CMT2A) and are the leading of axonal subtypes CMT. CMT2A is characterized by predominantly distal motor weakness muscle atrophy, with highly variable severity onset age. Notably, some can also lead to other phenotypes such as optic hearing loss lipodystrophy. Despite clear link between CMT2A, our mechanistic understanding how dysfunction MFN2 protein...
Neurite formation, a fundamental process in neuronal maturation, requires the coordinated regulation of cytoskeletal reorganization and membrane transport. Compared to understanding functions, less is known about supply membranes growing neurites. Lemur kinase 1A (LMTK1A) an endosomal protein that highly expressed neurons. We recently reported LMTK1A regulates trafficking Rab11-positive recycling endosomes axons dendrites. Here, we used kinase-negative (kn) mutant investigate role activity...
Abstract Pathogenic variants in MFN2 cause Charcot-Marie-Tooth disease (CMT) type 2A (CMT2A) and are the leading of axonal subtypes CMT. CMT2A is characterized by predominantly distal motor weakness muscle atrophy, with highly variable severity onset age. Notably, some can also lead to other phenotypes such as optic hearing loss lipodystrophy. Despite clear link between CMT2A, our mechanistic understanding how dysfunction protein causes human pathologies remains incomplete. This lack due...
<ns4:p><ns4:bold>Background: </ns4:bold>Pathogenic variants in <ns4:italic>MFN2</ns4:italic> cause Charcot-Marie-Tooth disease (CMT) type 2A (CMT2A) and are the leading of axonal subtypes CMT. CMT2A is characterized by predominantly distal motor weakness muscle atrophy, with highly variable severity onset age. Notably, some can also lead to other phenotypes such as optic hearing loss lipodystrophy. Despite clear link between CMT2A, our mechanistic understanding how dysfunction MFN2 protein...
Abstract Background MFN2 encodes a multifunctional mitochondrial protein best known for its role fusion. While pathogenic variants in typically cause Charcot-Marie-Tooth disease subtype 2A, an axonal peripheral neuropathy, exome sequencing identified uncharacterized variant, Q367H, patient diagnosed with late-onset distal myopathy without neuropathy. Although impaired fusion can mtDNA-mediated inflammation via TLR9 activation of NF-kB, which is linked to mouse model MFN1 deficiency, this...
Abstract The psychedelic compound psilocybin has shown therapeutic benefit in the treatment of numerous psychiatric diseases. A recent randomized clinical trial conducted at Johns Hopkins Bayview Medical Center demonstrated efficacy psilocybin-assisted therapy Major Depressive Disorder (MDD). Similarly, a phase IIb study evaluating for treatment-resistant depression (TRD) presented statistically meaningful and long-term reduction depressive symptoms. Also, many studies have reported...