Publications by authors named "C Buon"
Article Synopsis
- ALS is a disease that affects nerve cells and usually leads to severe muscle problems and a short life expectancy of 3-5 years.
- The study explored how cholesterol and its levels in muscle might relate to the problems caused by ALS, showing that ALS patients had more cholesterol in their muscles.
- Researchers noticed that certain genes related to cholesterol movement were overactive in ALS patients, suggesting that cholesterol buildup might be linked to the severity of their muscle issues.
Article Synopsis
- Six genes associated with high molecular weight penicillin-binding proteins (Pbp) are found in the β-lactam-resistant strain K411.
- One specific gene linked to penicillin-binding protein 2c (Pbp2c) is present in resistant strains but absent in sensitive ones, demonstrating a clear relationship with resistance levels.
- The Pbp2c protein significantly enhances β-lactam resistance and is regulated by a specific system activated by β-lactams, requiring up to 48 hours for detection in certain strains, with Pbp2c-expressing strains showing resistance to all tested β-lactam antibiotics.
Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many mutations encoding postsynaptic proteins as Agrin, MuSK and LRP4 have been identified as responsible for increasingly complex CMS phenotypes. The majority of mutations identified in LRP4 gene causes bone diseases including CLS and sclerosteosis-2 and rare cases of CMS with mutations in LRP4 gene has been described so far.
View Article and Find Full Text PDFThe development of the neuromuscular junction (NMJ) requires dynamic trans-synaptic coordination orchestrated by secreted factors, including Wnt family morphogens. To investigate how these synaptic cues in NMJ development are transduced, particularly in the regulation of acetylcholine receptor (AChR) accumulation in the postsynaptic membrane, we explored the function of Van Gogh-like protein 2 (Vangl2), a core component of Wnt planar cell polarity signaling. We found that conditional, muscle-specific ablation of in mice reproduced the NMJ differentiation defects seen in mice with global deletion.
View Article and Find Full Text PDFObjective: To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 () gene as the genetic cause of severe and early presynaptic forms of congenital myasthenic syndromes (CMSs).
Methods: Next-generation sequencing identified new homozygous intronic and frameshift mutations in the gene as a likely cause of presynaptic CMS. We describe the clinical and electromyographic patient phenotypes, perform ex vivo splicing analyses to characterize the effect of the intronic mutation on exon splicing, and analyze the functional impact of this variation at the neuromuscular junction (NMJ).