Publications by authors named "C Brulard"
Article Synopsis
- - Post-translational modifications (PTMs) of proteins significantly impact their function and localization, and changes to these modifications can lead to post-translational variants (PTVs) that are linked to disease processes.
- - This study focuses on four key proteins related to amyotrophic lateral sclerosis (ALS): SOD1, TDP-43, FUS, and TBK1, detailing their various PTMs like acetylation and phosphorylation, as well as mutation sites relevant to ALS.
- - Understanding the PTMs and PTVs associated with ALS proteins is essential for gaining insights into the disease's pathology and for creating more effective treatments.
Article Synopsis
- The study investigates the role of the ubiquitin pathway in amyotrophic lateral sclerosis (ALS) by analyzing genes associated with this pathway in 176 ALS patients.
- Through next-generation sequencing, researchers identified both known and new pathogenic variants in these genes, highlighting the significance of the ubiquitin system in ALS.
- One notable finding was the role of the NEDL1 gene, which encodes a protein linked to increased cell death and mislocalization of TDP-43, a protein critical to ALS pathology, suggesting a need for further research on NEDL1’s involvement in the disease.
Article Synopsis
- Retinoblastoma is the most common eye cancer in children, originating from developing retinal cells, but its molecular behavior is not well understood.* -
- Researchers identified two distinct subtypes of retinoblastoma: Subtype 1 is characterized by early onset and less genetic alteration, while Subtype 2 has recurrent genetic changes, is less differentiated, and has a higher likelihood of spreading.* -
- Understanding these two subtypes can offer new insights into the biology and treatment of retinoblastoma, with subtype 1 being less aggressive and subtype 2 showing more aggressive traits and stem cell-like features.*
Protein aggregates in affected motor neurons are a hallmark of amyotrophic lateral sclerosis (ALS), but the molecular pathways leading to their formation remain incompletely understood. Oxidative stress associated with age, the major risk factor in ALS, contributes to this neurodegeneration in ALS. We show that several genes coding for enzymes of the ubiquitin and small ubiquitin-related modifier (SUMO) pathways exhibit altered expression in motor neuronal cells exposed to oxidative stress, such as the CCNF gene mutated in ALS patients.
View Article and Find Full Text PDFEffect of familial clustering in the genetic screening of 235 French ALS families.
J Neurol Neurosurg Psychiatry
May 2021
Article Synopsis
- This study aimed to investigate how the familial clustering and symptoms of ALS (amyotrophic lateral sclerosis) cases could help identify the disease's genetic causes.
- Researchers analyzed genetic mutations in 235 French families with familial ALS to find connections between genealogy and the disease's characteristics.
- Findings indicated that specific genetic mutations were linked to the number of affected family generations, suggesting that understanding family history and symptoms could guide targeted genetic testing for ALS.