Preprints.org’s Post

A nutrient-dependent molecular feedback circuit converts lysosomes into organelles that support anabolism or catabolism. Researchers have discovered a mutually exclusive molecular switch between PI(4)P and PI(3)P, which rapidly recalibrates lysosome function. This recalibration optimally aligns with the catabolic or anabolic functions that best support the cell's nutrient state, as influenced by mTORC1 activity. This adaptive process takes place before slower, longer-term responses related to biogenesis. This process might have implications for the therapeutics of diseases with lysosomal dysfunction, such as Lysosomal Storage Disorders, Alzheimer's and Parkinson's. The original article was published in Cell: https://lnkd.in/eGESfS2z and a commentary in Mol Cell: https://lnkd.in/ec2T2p-9 #genetics #genomics #precisionmedicine #genomicmedicine #lysosome #brain #neurology #neuroscience #neurodegeneration #raredisease #parkinsons #alzheimers #cellbiology #metabolism #nutrients #lipids #lipidomics #catabolism #omics #analbolism #starvation #biotechnology #therapeutics #innovation #research #science #sciencecommunication

Today, we’re excited to introduce ELPIS—our groundbreaking study bringing new hope to patients with CDKL5 Deficiency Disorder (CDD), a rare genetic condition. #ELPIS is the first study of its kind dedicated to this disorder. Our mission is to validate innovative biomarkers for CDD, focusing on: 📌 Plasma Microtubule Proteins 📌 Neurological Plasma Biomarkers With over $600,000 in initial funding and an additional $584,000 recently awarded by the Loulou Foundation, ELPIS is expanding its research across seven countries. Contact us to learn more and explore partnership opportunities in this pioneering research. Read the news 👉 https://shorturl.at/LvkLa #CDKL5 #Biomarkers #Neuroscience #GlobalResearch #UlyssesNeuroscience #EEG #PatientCentricity #Research

Worm Study Unlocks Key to Treating Alzheimer's and Parkinson's Researchers at Florida Atlantic University have discovered that the gene swip-10, studied in the roundworm Caenorhabditis elegans, plays a key role in copper regulation, which could lead to new treatments for neurodegenerative diseases like Parkinson'sand Alzheimer's The study links copper imbalance to neuron degeneration suggesting that restoring copper levels might prevent or slow disease progression. These findings highlight the importance of studying simple organisms to uncover potential therapeutic breakthroughs for complex human conditions like neurodegenerative disorders. #Neurodegeneration #AlzheimersResearch #ParkinsonsDisease #CopperBalance #Neuroscience #GeneticResearch #Swip10 #MedicalBreakthrough #FAUResearch #RoundwormStudy #BrainHealth #Neurotherapeutics #WissenResearch

The role of PINK1–Parkin in mitochondrial quality control Mitophagy, mediated by the recessive Parkinson's disease genes PINK1 and Parkin, is a cellular process that responds to mitochondrial damage to maintain mitochondrial function. PINK1 is a damage sensor, assessing the integrity of the mitochondrial import pathway and activating Parkin when the import is impaired. Parkin, the effector, selectively tags damaged mitochondria with ubiquitin, targeting them for mitophagy and other quality-control mechanisms. This selective mitochondrial quality-control pathway may be particularly crucial for dopamine neurons affected in Parkinson's disease, given the extensive distribution of their mitochondrial network throughout their highly branched axonal arbor. This review, published in Nat Cell Biol: https://lnkd.in/epz6f9yi summarizes the current understanding of the role of PINK1-Parkin in mitophagy quality control, encompassing PINK1's detection of mitochondrial distress, PINK1-mediated activation of Parkin to induce mitophagy, and the physiological significance of the PINK1-Parkin pathway. #genetics #genomics #precisionmedicine #genomicmedicine #brain #neurology #neurodegeneration #neuroscience #neuroinflammation #parkinson #mitochondria #lysosome #autophagy #biomarkers #therapeutics #biotechnology #innovation #research #science #sciencecommunication

💭 Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motor neurons, leading to severe muscle weakness and eventual loss of motor function. Recent research has sought to explore the potential of using Transcranial Magnetic Stimulation (TMS) to develop reliable biomarkers for neurodegenerative diseases, including ALS. The study yielded several key findings that demonstrate TMS’s potential in enhancing diagnostic accuracy and monitoring of ALS and similar conditions. Read the full breakdown of the study: 🧠 https://lnkd.in/gkKkst8n #ALS #TMS #Neuroscience

🧠 Alamar Biosciences' NULISAseq CNS Disease Panel 120 is gaining significant interest from Alzheimer's researchers. Measuring 120+ proteins linked to neurological diseases, the new panel offers a more comprehensive view of Alzheimer's beyond traditional amyloid biomarkers. Researchers like Dr. Thomas Karikari from the University of Pittsburgh have used the panel in recent studies, identifying key proteins linked to Alzheimer's progression, and are hopeful about its potential in diagnostics. Read the full GenomeWeb article for more 👉 https://ow.ly/opHS50TPbOE #AlzheimersResearch #Biomarkers #Neuroscience #Proteomics

📢 New findings suggest that having two copies of a specific gene could represent a new genetic form of Alzheimer's disease 🧠🧬 Research from Institut de Recerca Sant Pau analyzed data from >10,000 patients and samples from >2,000 brains and found that an estimated 2–3% of the population carries a gene variant where virtually all carriers develop Alzheimer's. "These data represent a reconceptualization of the disease," said Dr. Juan Fortea, MD PhD, director of the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute. 👇 Get the details of who is at risk here 👇 https://lnkd.in/eiFjNiue #AlzheimersDisease #Neuroscience #Genetics #Alzheimers #ClinicalResearch

Ubiquitin system mutations in neurological diseases Neuronal ubiquitin balance is crucial for regulating the fate of numerous cellular proteins, and its impairment is linked to a variety of neurological diseases. The ubiquitin system is essential for proper neuronal development and function, as well as for clearing misfolded or aggregated proteins that compromise cell health. This review examines recent advances in the understanding of how disruptions to components of the ubiquitin system, particularly E3 ligases and deubiquitylases, contribute to neurodevelopmental and neurodegenerative disorders. The authors focus on enzymes with recent characterization progress, including the identification of enzyme-substrate interactions, the utilization of stem cell and animal models, and the development of therapies for ubiquitin-related diseases. This article was published in Trends in Biochemical Sciences: https://lnkd.in/eUcfqAex #genetics #genomics #precisionmedicine #genomicmedicine #brain #neurology #neurodegeneration #neuroscience #neurodevelopment #alzheimer #parkinson #raredisease #proteostasis #biomarkers #therapeutics #biotechnology #innovation #research #science #sciencecommunication

🧠 Exciting Discovery in Memory Formation: 🌟 A recent study published in Nature sheds light on the fascinating connection between DNA damage,repair, and long-term memory formation. Researchers found that when memories are created, brain cells experience DNA breaks, triggering an inflammatory response crucial for memory consolidation. This groundbreaking research, led by Jelena Radulovic and team, uncovers the intricate mechanisms underlying memory encoding and retention. The study highlights the role of the TLR9 protein in the inflammatory response to DNA damage, suggesting that our own DNA acts as a signaling system for memory storage. Deleting the TLR9 gene in mice impaired long-term memory recall, emphasizing the importance of DNA repair in memory processes. Understanding these internal mechanisms not only enhances our knowledge of memory formation but also offers insights into neurodegenerative diseases like Alzheimer's. This research opens new avenues for exploring the complexities of memory at a cellular level. Read more about this exciting study here: https://lnkd.in/gtac6fTs #MemoryFormation #Neuroscience #DNADamage #InflammatoryResponse #ResearchBreakthrough 🧬🔬

🧠 The Genetic Code Behind Normal Pressure Hydrocephalus! Ever wondered what’s behind idiopathic normal pressure hydrocephalus (iNPH) – the condition characterized by cognitive issues, gait abnormalities, and urinary incontinence without increased cerebral pressure? This enlightening article digs deep into the genetic factors that might play a significant role in iNPH pathogenesis. Familial cases and recent genomic studies are shedding light on how genetics could influence everything from cerebrospinal fluid dynamics to neurodegenerative or neuroinflammatory processes. The beauty of it all? These insights are paving the way for better diagnosis and treatment strategies for iNPH patients. The journey of understanding iNPH continues, and with integrated genetic analysis and thorough clinical studies, we’re on the fast track to advancing its management. #Neuroscience #Innovation Read Research 👉🏻 https://lnkd.in/dhScbVA2 #research #pubmed