Variation in Exon 29 of the NOS1 Gene Does Not Contribute to … – Cureus

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• That time APOE met Alpha Syn February 10, 2020    Recently two independent research groups published scientific papers providing evidence that a genetic variation associated with Alzheimer’s may also be affecting the severity of pathology in Parkinson’s. The genetic variation associated with Alzheimer’s occurs in a gene (a functional region of DNA) called ApoE, and the Parkinson’s pathology involves the clustering of a protein called alpha synuclein. Specifically, both…
• Yo DJ, stop mis-splicing November 16, 2020 # # # # RNA – the usable copy of a section of DNA – has regions called introns that need to be removed before the RNA can be used for the production of protein. The process of removing introns is called splicing. Recently researchers have noticed that a genetic mutation in a Parkinson’s-associated gene – called DJ-1 – affects…
• The road ahead: 2022 January 20, 2022 # # # # The first post at the start of each year on the SoPD website tries to provide an overview of where things are in the search for ‘disease modifying’ therapies for Parkinson’s.  It is an exercise in managing expectations as well as discussing what research events are scheduled for the next year so that we can keep…
• Variation in Exon 29 of the NOS1 Gene Does Not Contribute to Parkinson's Disease in the North Karnataka Population - Cureus September 16, 2023 Variation in Exon 29 of the NOS1 Gene Does Not Contribute to Parkinson's Disease in the North Karnataka Population  Cureus
• The road ahead: 2021 January 25, 2021 # # # # At the start of each year, it is a useful practise to layout what is planned over the next 12 months. The events that are scheduled for the year to come, so that we can keep an eye out for them. Obviously, where 2021 will end actually is unpredictable, but an outline of what is scheduled…
• Bayer doubles down on Parkinson’s? December 10, 2020 # # # # News today of two biotech companies merging did not cause much of a ripple in the media, but the wider implications of the move are rather significant for Parkinson’s. Today it was announced that Brain Neurotherapy Bio (BNB) is going to merge with Asklepios Biopharmaceutical (aka AskBio). BNB are currently clinically testing a GDNF gene therapy…
• Prevail lands on a Lilly pad December 15, 2020 # # # # 2020 has been a dreadful year for most of the world – burdened by the outbreak and consequences of COVID-19. Despite this, there has been a steady stream of biotech acquisitions related to Parkinson’s which have helped to keep morale high in the PD research community. In October alone, we saw the Portuguese pharmaceutical company Bial…
• Forget Special K, maybe focus on LysoK February 20, 2021 # # # # Over the last 20 years, researchers have identified a number of genetic variations that can confer an increased risk of developing Parkinson’s. Tiny alterations in regions of DNA (called genes) – which provide the instructions for making a protein – can increase one’s chances of Parkinson’s. A better understanding of the biological pathways associated with these…
• 2020: Year in Review January 1, 2021 # # # # In this end-of-year post, we review the Parkinson’s research that caught our attention at SoPD HQ in 2020. Month-by-month we will briefly discuss some of the major pieces of research/ announcements that have defined the year and advanced our understanding of Parkinson’s. The list is based on nothing more than the author’s personal opinion – apologies…
• The road ahead: 2020 January 5, 2020 Here at the SoPD, we are primarily interested in disease modification for Parkinson’s. While there is a great deal of interesting research exploring the causes of the condition, novel symptomatic therapies, and other aspects of Parkinson’s, my focus is generally on the science seeking to slow, stop or reverse the condition. At the start of each year, it is a…
• The luminance of a lighthouse January 24, 2022 # # # # LRRK2 inhibition represents one of several biological approaches to slowing the progression of Parkinson’s that is currently being clinically tested. Leading the charge in the development of LRRK2 inhibitors is a biotech company called Denali Therapeutics (in partnership with Biogen). Recently, the company provided news on the immediate future clinical development plans for their lead molecule…
• GCase: Mutants matter? February 20, 2022 # # # # Tiny genetic variations in a region of DNA called the GBA gene are associated with an increased risk of developing Parkinson’s. The information in the GBA gene provides the instructions for making an enzyme (called GCase) which is involved with waste disposal inside of cells. Individuals with Parkinson’s who carry a variation in their GBA gene…
• Denali’s Phase I results May 27, 2021 # # # # Leucine-rich repeat kinase 2 (or LRRK2) is a large, multi function protein that is associated with Parkinson’s. People with genetic variations in the region of DNA that provides the instructions for making LRRK2 protein have a higher risk of developing the condition. In many cases of Parkinson’s, LRRK2 can become hyperactive. Researchers and biotech companies have…
• Repurposing bumetanide for Alzheimer’s October 15, 2021 # # # # Bumetanide (Bumex) is a diuretic drug (a medication that removes water, by increasing the production of urine). It is used to treat swelling caused by heart failure or liver or kidney disease. It is a widely used drug that has been well characterised in clinical use. Recently researchers conducted a screening study to identify clinically available…
• Identification of RBMX as a splicing regulator in Parkinsonian mimetic induced alternative splicing of α-synuclein May 16, 2022 Biochim Biophys Acta Gene Regul Mech. 2022 May 13:194825. doi: 10.1016/j.bbagrm.2022.194825. Online ahead of print.ABSTRACTα-Synuclein (α-syn) plays a precipitating role in Parkinson's disease (PD) due to its tendency to form oligomers and fibrils. The presence of smaller isoforms of α-syn was widely noticed in the affected brain regions of PD patients. 112-synuclein (112-syn) which lacks exon-5, possess enhanced aggregation propensity…
• Identification of RBMX as a splicing regulator in Parkinsonian mimetic induced alternative splicing of α-synuclein May 16, 2022 Biochim Biophys Acta Gene Regul Mech. 2022 May 13:194825. doi: 10.1016/j.bbagrm.2022.194825. Online ahead of print.ABSTRACTα-Synuclein (α-syn) plays a precipitating role in Parkinson's disease (PD) due to its tendency to form oligomers and fibrils. The presence of smaller isoforms of α-syn was widely noticed in the affected brain regions of PD patients. 112-synuclein (112-syn) which lacks exon-5, possess enhanced aggregation propensity…
• Identification of RBMX as a splicing regulator in Parkinsonian mimetic induced alternative splicing of α-synuclein May 16, 2022 Biochim Biophys Acta Gene Regul Mech. 2022 May 13:194825. doi: 10.1016/j.bbagrm.2022.194825. Online ahead of print.ABSTRACTα-Synuclein (α-syn) plays a precipitating role in Parkinson's disease (PD) due to its tendency to form oligomers and fibrils. The presence of smaller isoforms of α-syn was widely noticed in the affected brain regions of PD patients. 112-synuclein (112-syn) which lacks exon-5, possess enhanced aggregation propensity…
• Identification of RBMX as a splicing regulator in Parkinsonian mimetic induced alternative splicing of α-synuclein May 16, 2022 Biochim Biophys Acta Gene Regul Mech. 2022 May 13:194825. doi: 10.1016/j.bbagrm.2022.194825. Online ahead of print.ABSTRACTα-Synuclein (α-syn) plays a precipitating role in Parkinson's disease (PD) due to its tendency to form oligomers and fibrils. The presence of smaller isoforms of α-syn was widely noticed in the affected brain regions of PD patients. 112-synuclein (112-syn) which lacks exon-5, possess enhanced aggregation propensity…
• Identification of RBMX as a splicing regulator in Parkinsonian mimetic induced alternative splicing of α-synuclein May 16, 2022 Biochim Biophys Acta Gene Regul Mech. 2022 May 13:194825. doi: 10.1016/j.bbagrm.2022.194825. Online ahead of print.ABSTRACTα-Synuclein (α-syn) plays a precipitating role in Parkinson's disease (PD) due to its tendency to form oligomers and fibrils. The presence of smaller isoforms of α-syn was widely noticed in the affected brain regions of PD patients. 112-synuclein (112-syn) which lacks exon-5, possess enhanced aggregation propensity…
• Identification of RBMX as a splicing regulator in Parkinsonian mimetic induced alternative splicing of α-synuclein May 16, 2022 Biochim Biophys Acta Gene Regul Mech. 2022 May 13:194825. doi: 10.1016/j.bbagrm.2022.194825. Online ahead of print.ABSTRACTα-Synuclein (α-syn) plays a precipitating role in Parkinson's disease (PD) due to its tendency to form oligomers and fibrils. The presence of smaller isoforms of α-syn was widely noticed in the affected brain regions of PD patients. 112-synuclein (112-syn) which lacks exon-5, possess enhanced aggregation propensity…
• The Llama-nation of LRRK2 April 8, 2022 # # # # Antibodies are tiny y-shaped markers used by the immune system to label foreign agents within the body. Once bound to something, antibodies can alert immune cells to come and remove the object. Antibodies can also inhibit the object from doing anything nasty, like infecting or damaging a cell. Between species, different types of antibodies have been…
• The terazosin pilot study results December 16, 2021 # # # # Drug repurposing represents a means of rapidly testing and bring novel therapies to the patient. By testing clinically available drugs – that have well characterised safety records in a particular medical condition – one can determine if a certain biological pathway is playing an influential role in another disease. A good example of this is work…