Publications by authors named "L Petrucelli"
Genetic variants in TMEM106B, coding for a transmembrane protein of unknown function, have been identified as critical genetic modulators in various neurodegenerative diseases with a strong effect in patients with frontotemporal degeneration. The luminal domain of TMEM106B can form amyloid-like fibrils upon proteolysis. Whether this luminal domain is generated under physiological conditions and which protease(s) are involved in shedding remain unclear.
View Article and Find Full Text PDFBackground: The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expansion in multiple tissues, technological limitations have impeded researchers from exploring additional features, such as methylation levels.
Methods: We aimed to characterize C9orf72 repeat expansions using a targeted, amplification-free long-read sequencing method.
Sedimentation velocity, using an analytical ultracentrifuge equipped with fluorescence detection, and electrophoresis methods are used to study aggregation of proteins in transgenic animal model systems. Our previous work validated the power of this approach in an analysis of mutant huntingtin aggregation. We demonstrate that this method can be applied to another neurodegenerative disease studying the aggregation of three dipeptide repeats (DPRs) produced by aberrant translation of mutant c9orf72 containing large GC hexanucleotide repeats.
View Article and Find Full Text PDFProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics.
Genomics Proteomics Bioinformatics
November 2024
Article Synopsis
- Mass spectrometry (MS) is a key technique used for identifying and understanding proteins, which is important for fields like personalized medicine and systems biology.
- The development of ProtPipe aims to simplify MS data analysis by automating processes like data quality control, sample filtering, and normalization, making it easier to handle complex datasets.
- ProtPipe also offers various downstream analyses, such as identifying differences in protein abundance and visualizing interactions, and is available as an open-source tool with a user-friendly interface at https://github.com/NIH-CARD/ProtPipe.
Objective: We sought to identify differentially expressed proteins in serum, plasma, and plaque samples of patients with carotid atherosclerotic lesions.
Methods: We performed a systematic review of the proteomic profile of serum, plasma, and plaque samples of patients with carotid artery disease. We included full-length peer-reviewed studies of adult humans and reported them using PRISMA guidelines.