Publications by authors named "Kaela O'Connor"
The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35 known causative genes cause impaired neuromuscular transmission at the NMJ, resulting in fatigable muscle weakness. A subset of five of these CMS-causative genes are associated with protein glycosylation.
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- Brain pericytes can change into multiple cell types after injury, but different subsets might have varied abilities to do so based on their characteristics.
- Using an ischemic stroke model and advanced techniques like single-cell RNA sequencing, researchers identified two main pericyte subpopulations (NG2 and Tbx18) that respond differently to brain injury: NG2 pericytes are more likely to turn into neurons, while Tbx18 pericytes can become endothelial cells, fibroblasts, and microglia.
- Additionally, by manipulating AMP-dependent kinase (AMPK) activity, the study found ways to enhance the conversion of pericytes into functional neurons, implying that targeted treatments could improve neuron formation from pericytes after
Congenital myasthenic syndromes (CMS) are a group of rare, neuromuscular disorders that usually present in childhood or infancy. While the phenotypic presentation of these disorders is diverse, the unifying feature is a pathomechanism that disrupts neuromuscular transmission. Recently, two mitochondrial genes-SLC25A1 and TEFM-have been reported in patients with suspected CMS, prompting a discussion about the role of mitochondria at the neuromuscular junction (NMJ).
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- FILIP1 is a structural protein that plays a role in the function and integrity of neurons and muscles, and mutations in this protein lead to serious health issues, particularly neurological and muscular disorders.
- Researchers studied five patients from unrelated families who had harmful FILIP1 mutations and found they exhibited a range of symptoms, such as brain malformations and muscle weakness.
- The findings indicate that defective FILIP1 causes a recessive disorder with both neurological and muscular effects, highlighting issues like protein dysregulation and muscle damage typical of a new condition known as FILIP1opathy.
Graduate students are vital to the creation of research and innovation in Canada. The National Graduate Student Finance Survey was launched in 2021 by the Ottawa Science Policy Network to investigate the financial realities of Canadian graduate students. Closing in April 2022, the survey received 1305 responses from graduate students representing various geographical locations, years of study, fields of education, and demographic backgrounds.
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