Auinash Kalsotra studies how specific molecules influence the way genes are processed and how cells respond to stress, particularly in conditions like cancer and liver diseases. For example, he investigates how low oxygen levels in tumors can alter gene expression, which is crucial for developing targeted cancer therapies. Additionally, he explores the role of proteins and RNAs in conditions like alcohol-related liver disease and myotonic dystrophy, looking for ways to improve treatment and patient outcomes by understanding cellular behavior and regeneration.
Key findings
The long noncoding RNA MALAT1 enhances gene processing in low-oxygen conditions, which could lead to new cancer treatments.
Loss of the protein ZFP36L1 in liver cells worsens alcohol-related liver disease, correlating with more severe liver problems.
Heart cells in myotonic dystrophy type 1 show a 50% decrease in oxygen consumption, hinting at important treatment avenues for heart function.
Higher levels of the cancer-related snaR-A RNA disrupt normal RNA splicing, suggesting it could be a target for cancer therapies.
Reducing a protein called Cofilin helps embryos survive heat stress, indicating potential protective strategies for developing embryos.
Frequently asked questions
Does Dr. Kalsotra study cancer?
Yes, Dr. Kalsotra researches how specific molecules impact gene processing in cancers, especially in low-oxygen environments.
What treatments has Dr. Kalsotra researched for liver diseases?
Dr. Kalsotra has focused on targeting specific proteins and RNA processes to improve liver regeneration and treatment for alcohol-related liver disease.
Is Dr. Kalsotra's work relevant to patients with myotonic dystrophy?
Absolutely, his research looks into how myotonic dystrophy affects liver function and how to potentially improve treatment strategies for these patients.
How does Dr. Kalsotra's research help with muscle health?
His studies on exercise and muscle metabolism reveal how past training can optimize muscle growth, which is valuable for maintaining muscle health.
What insight does Dr. Kalsotra provide about embryo development?
His research indicates that reducing certain proteins can improve embryo survival under heat stress, which is important for developmental biology.
Publications in plain English
Aberrant Splicing ofImpairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1).
2026
Circulation. Genomic and precision medicine
Adesanya O, Nabie P, Betancourt A, Kalsotra A
Plain English This study looked at how myotonic dystrophy type 1 (DM1) affects heart function by disrupting cellular energy processes and the structure of mitochondria, which are the powerhouses of cells. Researchers found that heart cells in a mouse model of DM1 had a 50% decrease in oxygen consumption and a drop in energy molecules (ATP and NADH), leading to fragmented mitochondria. Understanding these changes is important because they give clues about how to treat heart issues in DM1 patients.
Who this helps: This helps patients with myotonic dystrophy and their doctors.
Zinc-dependent RNA-binding protein controls hepatocyte senescence and recovery from alcohol-related liver failure.
2026
Gut
Dutta RK, Du K, Ren N, Umbaugh DS, Oh SH +4 more
Plain English This study examined a protein called ZFP36L1 and its role in alcohol-related liver disease (ALD). Researchers found that when ZFP36L1 was removed from liver cells in mice, the progression of ALD worsened, with an increase in liver cell aging and inflammation. Additionally, they noted that in human liver samples, lower activity of ZFP36L1 was linked to more severe liver disease and loss of zinc signaling, showing that targeting ZFP36L1 could be a valuable way to treat ALD.
Who this helps: Patients with alcohol-related liver disease.
LncRNA-splicing factor condensates regulate hypoxia-responsive pre-mRNA processing near nuclear speckles.
2026
Molecular cell
Song YJ, Shinn MK, Bangru S, Wang Y, Sun Q +11 more
Plain English This research studied how certain molecules in cells influence the processing of genetic material (pre-mRNA) when cells are low on oxygen, a common situation in tumors. The researchers found that a long noncoding RNA called MALAT1 helps manage the splicing process by gathering splicing factors to areas in the nucleus where they can work most effectively, leading to significant changes in gene expression under low oxygen conditions. This is important because understanding these mechanisms could help develop new treatments for cancers that thrive in low-oxygen environments.
Who this helps: This helps patients with cancer, especially those whose tumors are affected by low oxygen levels.
ESRP2-microRNA-122 axis promotes the postnatal onset of liver polyploidization and maturation.
2025
Genes & development
Bangru S, Chen J, Baker N, Das D, Chembazhi UV +7 more
Plain English This study looked at how a protein called ESRP2 helps liver cells (hepatocytes) develop and increase their genetic material after birth. Researchers found that activating ESRP2 is crucial for the production of liver-specific microRNA, which in turn supports the growth and maturity of these cells. This is important because proper liver function relies on these processes, and understanding them could lead to better treatments for liver diseases.
Who this helps: Patients with liver conditions and their doctors.
Reducing Cofilin dosage makes embryos resilient to heat stress.
2025
bioRxiv : the preprint server for biology
Biel N, Rashid F, Natua S, Wang TY, Chou TF +4 more
Plain English This study looked at how a protein called Cofilin affects embryos when they experience heat stress. Researchers found that when embryos were exposed to mild heat (32°C), it triggered stress responses mediated by Cofilin, but this didn't help them survive; instead, many developmental genes were shut down, resulting in fewer embryos hatching. However, when the amount of Cofilin was reduced, the embryos showed better survival rates and fewer negative effects from the heat, indicating that lowering Cofilin could be a valuable strategy in protecting embryos from heat stress.
Who this helps: This helps researchers and potentially improves outcomes for developing embryos in various species.
Drug delivery agent that acts as a drug for synergistic activity.
2025
iScience
Li K, Chembazhi UV, Krueger SB, Dewald Z, Chen J +7 more
Plain English This study focused on creating a new type of drug delivery system specifically designed to treat myotonic dystrophy type 1 (DM1). Researchers developed a delivery agent that not only helps to get a treatment into cells but also works as a drug itself by targeting harmful genetic sequences involved in DM1. They found that this system improved cell uptake of the treatment in various models, including human cells and mice, leading to beneficial effects, though results varied.
Who this helps: This benefits patients with myotonic dystrophy type 1 and their doctors.
Dysregulated RNA splicing impairs regeneration in alcohol-associated liver disease.
2025
Nature communications
Chembazhi UV, Bangru S, Dutta RK, Das D, Peiffer B +9 more
Plain English This study looked at why livers damaged by alcohol don’t regenerate properly. Researchers found that changes in certain proteins and RNA processing in liver cells prevent these cells from healing, which is critical for patients with severe liver damage. Specifically, they identified a protein called ESRP2 that is important for normal liver function; when it's deficient, it leads to problems in liver regeneration pathways. These RNA processing issues could serve as important indicators of alcohol-related liver disease and targeting them may help improve recovery.
Who this helps: This research benefits patients with alcohol-related liver disease and their doctors by providing potential new ways to improve liver recovery.
Muscle memory of exercise optimizes mitochondrial metabolism to support skeletal muscle growth.
2025
American journal of physiology. Cell physiology
Weidenhamer CJ, Huang YH, Natua S, Kalsotra A, Hernández-Saavedra D
Plain English This study examined how previous exercise training affects muscle growth and metabolism when the muscles are retrained after a break. Researchers found that mice who underwent exercise retraining gained less weight and had increased muscle size, even if they ran less than before. The study showed that exercise improves the ability of mitochondria in muscles to burn fat for energy, which supports healthy muscle growth.
Who this helps: This helps patients and individuals looking to maintain muscle health as they age.
Cancer-associated snaR-A noncoding RNA interacts with core splicing machinery and disrupts processing of mRNA subpopulations.
2025
Nature communications
Zhou S, Lizarazo S, Chorghade S, Mouli L, Cheng R +3 more
Plain English This study looked at a small RNA called snaR-A, which is increased in cancer and affects how RNA is processed in cells. Researchers found that when snaR-A levels were high, it disrupted normal RNA splicing, leading to inefficient processing of messenger RNA (mRNA), while lowering snaR-A improved splicing and reduced cell growth. This matters because it links snaR-A to cancer growth, suggesting that targeting snaR-A could be a new way to address certain cancers.
Who this helps: This research benefits cancer patients and doctors by providing insights into new treatment targets.
Emerging roles of RNA-binding proteins in fatty liver disease.
2024
Wiley interdisciplinary reviews. RNA
Adesanya O, Das D, Kalsotra A
Plain English This study looks at the role of specific proteins, called RNA-binding proteins (RBPs), in fatty liver disease (FLD), which includes both alcoholic and non-alcoholic types. The research found that problems with RBPs can disrupt how genes are managed in the liver, leading to issues like inflammation, which can progress to more serious conditions such as liver cirrhosis and cancer. Understanding RBPs better could lead to new treatment options for FLD, which is a growing health concern worldwide.
Who this helps: This benefits patients with fatty liver disease and their healthcare providers.
PTBP1 mediates Sertoli cell actin cytoskeleton organization by regulating alternative splicing of actin regulators.
2024
bioRxiv : the preprint server for biology
Wang Y, Chembazhi UV, Yee D, Chen S, Ji J +10 more
Plain English This study focused on how a protein called PTBP1 helps organize the internal structure of Sertoli cells, which are essential for sperm production in the testes. Researchers found that PTBP1 influences the way other proteins involved in maintaining the cell's structure are made, particularly affecting a specific protein that strengthens connections between cells. This is important because proper cell structure is crucial for protecting sperm and ensuring their development.
Who this helps: This research helps doctors and scientists understand male fertility better, which can benefit patients experiencing infertility issues.
Cancer-associated snaR-A noncoding RNA interacts with core splicing machinery and disrupts processing of mRNA subpopulations.
2024
bioRxiv : the preprint server for biology
Zhou S, Lizarazo S, Mouli L, Chorghade S, Cheng R +3 more
Plain English This study examined a specific type of RNA called snaR-A, which is linked to cancer growth. Researchers found that higher levels of snaR-A in tumors were associated with worse outcomes for patients, and that snaR-A interacts with proteins involved in processing messenger RNA, impacting how genes are expressed. This matters because understanding this mechanism could lead to new ways to disrupt cancer progression.
Who this helps: This helps cancer patients by potentially leading to better treatments.
ESRP2-microRNA-122 axis directs the postnatal onset of liver polyploidization and maturation.
2024
bioRxiv : the preprint server for biology
Bangru S, Chen J, Baker N, Das D, Chembazhi UV +7 more
Plain English This study looked at how a specific protein called ESRP2 helps liver cells mature and become more efficient after birth. Researchers found that when ESRP2 is activated, it triggers the production of a liver-specific molecule called microRNA-122. This process is crucial for liver cells to grow and function properly, as it helps them change from a fetal state to a more mature state. They discovered that ESRP2 ensures that liver cells multiply correctly, which is important for the liver's overall health and function.
Who this helps: This research helps patients with liver conditions by improving our understanding of liver cell development.
Lipid droplet-associated hydrolase mobilizes stores of liver X receptor sterol ligands and protects against atherosclerosis.
2024
Nature communications
Goo YH, Plakkal Ayyappan J, Cheeran FD, Bangru S, Saha PK +8 more
Plain English This study looked at a protein called LDAH that is found in fat droplets within certain immune cells called macrophages. Researchers discovered that LDAH helps reduce atherosclerosis, a condition where arteries get clogged, by changing how these immune cells behave. In experiments with mice, they found that LDAH not only inhibits plaque development but also leads to a healthier, less inflammatory state in the cells.
Who this helps: This benefits patients at risk for heart disease, particularly those with atherosclerosis.
PTBP1 mediates Sertoli cell actin cytoskeleton organization by regulating alternative splicing of actin regulators.
2024
Nucleic acids research
Wang Y, Chembazhi UV, Yee D, Chen S, Ji J +10 more
Plain English This study looked at how a protein called PTBP1 affects the structure of Sertoli cells, which are essential for producing sperm in the testis. Researchers found that PTBP1 helps organize the actin cytoskeleton in these cells by controlling the way other proteins are made, specifically by influencing which parts of the proteins are included during their creation. This process is crucial for maintaining the blood-testis barrier and assisting in the development of sperm.
Who this helps: This helps patients dealing with fertility issues.
Altered drug metabolism and increased susceptibility to fatty liver disease in a mouse model of myotonic dystrophy.
2024
Nature communications
Dewald Z, Adesanya O, Bae H, Gupta A, Derham JM +2 more
Plain English Researchers studied how myotonic dystrophy type 1 (DM1), a common muscular disorder, affects liver function and drug metabolism in mice. They found that mice with DM1 were more likely to develop fatty liver disease and had trouble processing certain medications. Specifically, the accumulation of harmful substances in the liver got worse with unhealthy diets, revealing that DM1 disrupts liver health and complicates treatment for patients.
Who this helps: This helps patients with myotonic dystrophy and their doctors managing their liver health and medication needs.
Chromatin-associated lncRNA-splicing factor condensates regulate hypoxia responsive RNA processing of genes pre-positioned near nuclear speckles.
2024
bioRxiv : the preprint server for biology
Song YJ, Shinn MK, Bangru S, Wang Y, Sun Q +11 more
Plain English This study looked at how certain RNA molecules in cells respond to low oxygen conditions, affecting the way genes are processed. Researchers found that a long RNA molecule called MALAT1 plays a key role by bringing a splicing factor, called SRSF1, to specific areas in the cell nucleus called nuclear speckles, which helps to enhance the efficiency of gene processing. This matters because understanding this mechanism can improve our knowledge of tumor growth and spread in low oxygen environments.
Who this helps: This helps patients with tumors and their doctors by informing potential treatments.
Dysregulated RNA splicing induces regeneration failure in alcohol-associated liver disease.
2024
bioRxiv : the preprint server for biology
Chembazhi UV, Bangru S, Dutta R, Das D, Peiffer B +9 more
Plain English This study looked at how liver cells respond to damage from alcohol over time and why they fail to regenerate. Researchers found that changes in RNA splicing—processes that help cells use their genetic instructions—were disrupted in alcohol-related liver disease (ALD). Specifically, a protein called ESRP2 was found to be crucial; when it's not functioning properly, it leads to miscommunication in liver cell activities and prevents them from regenerating properly, which could worsen liver health and recovery.
Who this helps: This research benefits patients with alcohol-related liver disease and their doctors by highlighting potential new treatment strategies.
PTBP1 controls intestinal epithelial regeneration through post-transcriptional regulation of gene expression.
2023
Nucleic acids research
Chembazhi UV, Tung WS, Hwang H, Wang Y, Lalwani A +7 more
Plain English This study examined how a protein called PTBP1 affects the regeneration of the intestinal lining in mice. Researchers found that when PTBP1 was removed from intestinal cells, it led to the death of stem cells and stopped the regeneration process. Specifically, the absence of PTBP1 caused problems in a support cell type, leading to a failure in maintaining a healthy environment for stem cells, which play a crucial role in intestinal health.
Who this helps: This research benefits doctors and scientists working on treatments for intestinal diseases and conditions.
Splicing factor SRSF1 deficiency in the liver triggers NASH-like pathology and cell death.
2023
Nature communications
Arif W, Mathur B, Saikali MF, Chembazhi UV, Toohill K +13 more
Plain English This study focused on a protein called SRSF1, which is important for liver cell health. Researchers found that when SRSF1 is missing, liver cells suffer damage, leading to a build-up of harmful substances and eventually causing liver disease similar to non-alcoholic steatohepatitis (NASH). The study highlights that SRSF1 is crucial for keeping liver cells functioning properly and preventing serious conditions.
Who this helps: This helps patients with liver diseases and doctors who treat them.
The discovery, function, and regulation of epithelial splicing regulatory proteins (ESRP) 1 and 2.
2023
Biochemical Society transactions
Derham JM, Kalsotra A
Plain English This study looks at two proteins, called epithelial splicing regulatory proteins (ESRP) 1 and 2, which help control how genes are expressed by managing the process of alternative splicing—the way that RNA can be edited to create different versions of proteins. The researchers found that these proteins play important roles in the development and function of various body parts, such as limbs and the inner ear, and are involved in processes like tissue regeneration and the progression of diseases, including cancer. Understanding how these proteins work could lead to better treatments for conditions related to tissue damage or abnormal cell behavior.
Who this helps: This research benefits patients dealing with tissue regeneration issues or cancer, as well as doctors looking to improve treatment approaches.
NK cell expansion requires HuR and mediates control of solid tumors and long-term virus infection.
2023
The Journal of experimental medicine
Piersma SJ, Bangru S, Yoon J, Liu TW, Yang L +4 more
Plain English This study focused on natural killer (NK) cells, which are important for fighting tumors and virus infections. Researchers found that a protein called HuR is crucial for the growth of NK cells; when HuR was missing, NK cells couldn’t grow properly and had trouble during a key stage of their development. The study showed that HuR helps NK cells control long-term infections like cytomegalovirus and manage solid tumors, but it doesn't help with spreading tumors.
Who this helps: This benefits patients with solid tumors and long-term viral infections.
Plain English This research studied a new method called SimiC that improves how scientists understand how genes control different cell types. By using SimiC, researchers discovered new gene activity patterns in CAR T cells, liver regeneration, and how glial cells affect honeybee behavior. This is important because it helps reveal complex relationships between cells that were previously overlooked, enhancing our overall understanding of biology.
Who this helps: This helps researchers and doctors studying diseases and treatments at a cellular level.
Cellular and molecular profiles of larval and adult Xenopus corneal epithelia resolved at the single-cell level.
2022
Developmental biology
Sonam S, Bangru S, Perry KJ, Chembazhi UV, Kalsotra A +1 more
Plain English Researchers studied the cells in the corneas of young and adult frogs to understand how these cells develop and what makes them unique. They found that as the corneas mature, the variety of cell types increases, along with significant changes in gene activity and how cells communicate. This information is important because it could lead to better ways to repair or regenerate corneas in humans.
Who this helps: This helps patients needing corneal repair or transplants.
Unbiased proteomic screening identifies a novel role for the E3 ubiquitin ligase Nedd4-2 in translational suppression during ER stress.
2021
Journal of neurochemistry
Eagleman DE, Zhu J, Liu DC, Seimetz J, Kalsotra A +1 more
Plain English This study focused on understanding how a protein called Nedd4-2 affects cell response during a type of stress known as endoplasmic reticulum (ER) stress, which can lead to cell death and is linked to various neurological diseases. Researchers found that Nedd4-2 influences the production of essential proteins in brain cells, specifically showing that it interacts with ribosomal proteins when ER stress occurs. This discovery reveals a new way that cells manage stress and could help us understand certain neurological disorders better.
Who this helps: This benefits patients with neurological diseases and their doctors by providing insights into potential new treatment strategies.
Cellular plasticity balances the metabolic and proliferation dynamics of a regenerating liver.
2021
Genome research
Chembazhi UV, Bangru S, Hernaez M, Kalsotra A
Plain English This study explored how the liver manages to both regenerate and maintain its vital functions after partial removal in mice. Researchers discovered that some liver cells temporarily switch back to an earlier state to help them multiply, while other cells stay highly active to support liver functions during this time. They found that the process starts in the middle of the liver and then spreads out, highlighting how different liver cells work together to ensure proper recovery.
Who this helps: This research benefits patients who undergo liver surgery and could improve recovery strategies for them.
Nuclear receptors FXR and SHP regulate protein N-glycan modifications in the liver.
2021
Science advances
Mathur B, Shajahan A, Arif W, Chen Q, Hand NJ +7 more
Plain English This study looked at how two proteins, FXR and SHP, affect the way proteins are modified in the liver. Researchers found that when both FXR and SHP were removed from liver cells, there was an increase in certain complex sugars on proteins. Specifically, there was a rise in specific types of sugar modifications, with increased amounts seen in the modified proteins; this change impacted how the liver processed important substances like albumin and cholesterol.
Who this helps: This helps patients with liver diseases by enhancing understanding of liver function and protein processing.
Epithelial splicing regulatory protein 2-mediated alternative splicing reprograms hepatocytes in severe alcoholic hepatitis.
2020
The Journal of clinical investigation
Hyun J, Sun Z, Ahmadi AR, Bangru S, Chembazhi UV +6 more
Plain English Researchers studied severe alcoholic hepatitis (SAH), a serious liver disease linked to high mortality rates, and found that a protein called ESRP2 helps maintain healthy liver cells. In patients and animal models, lower levels of ESRP2 were associated with severe alcohol consumption and liver damage, leading to immature liver cell growth that hinders recovery. This understanding highlights a potential way to improve treatment for SAH by preventing the transformation of mature liver cells into less functional ones.
Who this helps: This helps patients suffering from severe alcoholic hepatitis.
Cellular and molecular basis of liver regeneration.
2020
Seminars in cell & developmental biology
Bangru S, Kalsotra A
Plain English Researchers studied how the liver heals itself after injury by looking closely at individual liver cells and their changes during the regeneration process. They found that specific signals direct liver cells to grow and adapt, which is crucial for recovery after damage. Understanding these processes is important because it could lead to better treatments for liver diseases and improve recovery strategies.
Who this helps: This benefits patients with liver injuries or diseases and doctors treating them.
Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy.
2020
Developmental cell
Misra C, Bangru S, Lin F, Lam K, Koenig SN +9 more
Plain English Researchers studied how a specific form of a protein called RBFOX2 affects the hearts of people with Myotonic Dystrophy type 1 (DM1), a genetic disorder that affects many body systems. They found that this non-muscle form of RBFOX2 triggers heart conduction problems in about 80% of DM1 patients, leading to dangerous heart issues like delays in heart signals and irregular heartbeats. Understanding this mechanism is important because it reveals potential targets for treatments that could prevent serious heart complications in DM1 patients.
Who this helps: This helps patients with Myotonic Dystrophy and their doctors.
Complementary Oligonucleotide Conjugated Multicolor Carbon Dots for Intracellular Recognition of Biological Events.
2020
ACS applied materials & interfaces
Srivastava I, Misra SK, Bangru S, Boateng KA, Soares JANT +3 more
Plain English Researchers studied a new type of tiny particles called carbon dots that change color when they encounter specific DNA sequences inside cells. They found that these carbon dots, when designed with complementary DNA, can effectively target and signal the presence of GAPDH mRNA, a crucial molecule in cells, by changing fluorescence. This is important because it allows for better monitoring of critical cellular conditions like calcium levels and pH, which can indicate cell health.
Who this helps: This benefits scientists and researchers studying cell biology and diseases.
Effect of PFOA on DNA Methylation and Alternative Splicing in Mouse Liver.
2020
Toxicology letters
Wen Y, Chen J, Li J, Arif W, Kalsotra A +1 more
Plain English This study examined how perfluorooctanoic acid (PFOA), a harmful environmental chemical, affects liver cells in young female mice. Researchers found that higher levels of PFOA led to greater liver weight and changes in DNA markers, with significant alterations in certain genes that control cell division and survival. This information is important because it reveals how PFOA can cause liver damage and could help in understanding related health risks in humans.
Who this helps: This helps patients at risk for liver diseases related to environmental toxins.
Antagonism between splicing and microprocessor complex dictates the serum-induced processing of lnc-for efficient cell cycle reentry.
2020
RNA (New York, N.Y.)
Sun Q, Hao Q, Lin YC, Song YJ, Bangru S +12 more
Plain English This study looked at how specific molecules in cells, called long noncoding RNAs (lncRNAs), affect the transition of cells from a resting state back to active growth. The researchers found that when cells are stimulated by serum (a component of blood), certain lncRNAs increase and help the cells re-enter the cell cycle effectively. Specifically, they found that increased levels of these lncRNAs helped cells resume growth independently of microRNAs, which were previously thought to play a larger role in this process.
Who this helps: This research benefits patients with conditions that require tissue repair, such as those recovering from surgery or injury.
Transcriptomic analysis across liver diseases reveals disease-modulating activation of constitutive androstane receptor in cholestasis.
2020
JHEP reports : innovation in hepatology
Mathur B, Arif W, Patton ME, Faiyaz R, Liu J +6 more
Plain English Researchers studied how different liver diseases affect gene activity in mice and humans. They discovered that liver disease causes changes in genes related to inflammation and tissue growth, but cholestasis— a specific liver condition— showed a strong increase in genes that help break down drugs. For cholestatic mice, this heightened drug metabolism helped protect their livers from damage, indicating that patients with cholestasis might need different medication dosages to avoid side effects.
Who this helps: This helps patients with liver diseases, especially cholestasis, and their doctors in managing medication dosages.
Cell-type specific polysome profiling from mammalian tissues.
2019
Methods (San Diego, Calif.)
Seimetz J, Arif W, Bangru S, Hernaez M, Kalsotra A
Plain English This study focused on understanding how genes are expressed differently in various types of cells in mammal tissues. The researchers developed a method to analyze the proteins and messenger RNAs present in specific cell types, which revealed important details about how these elements work together to control protein production. This matters because knowing how genes are regulated in different cells can help improve treatments for diseases that involve gene expression issues.
Who this helps: This research benefits scientists and healthcare professionals studying genetic disorders and developing targeted therapies.
Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1.
2019
Proceedings of the National Academy of Sciences of the United States of America
Lee J, Bai Y, Chembazhi UV, Peng S, Yum K +6 more
Plain English Researchers created new therapeutic agents that can easily enter cells and target specific DNA and RNA involved in myotonic dystrophy type 1 (DM1). Their tests showed that these agents could significantly reduce DM1 symptoms in cells and in mice, improving movements in affected mice without causing toxicity. This is important because it could lead to more effective treatments for DM1 and similar genetic disorders.
Who this helps: This benefits patients with myotonic dystrophy and other genetic diseases.
Correction: Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.
2018
PLoS biology
Jaiswal M, Haelterman NA, Sandoval H, Xiong B, Donti T +5 more
Plain English This study looked at how problems with energy production in cells affect the eyes, specifically the light-sensing cells known as photoreceptors. Researchers found that issues with energy generation led to damage to these cells when exposed to light, regardless of any oxidative stress, pointing to a direct link between energy production and photoreceptor health. Understanding this connection is important for developing treatments for vision loss related to energy problems in the eye.
Who this helps: This benefits patients with vision loss and their doctors.
Deregulation of RNA Metabolism in Microsatellite Expansion Diseases.
2018
Advances in neurobiology
Misra C, Lin F, Kalsotra A
Plain English This study looked at how RNA metabolism, which is the process that helps produce proteins from our genes, is disrupted in Myotonic Dystrophy, a serious genetic disease. Researchers found that issues with RNA-Binding Proteins lead to problems in various steps of RNA processing, which can worsen the disease. Understanding these disruptions helps clarify why Myotonic Dystrophy and similar diseases occur, and it could lead to better treatments in the future.
Who this helps: This benefits patients with Myotonic Dystrophy and similar genetic disorders.
Alternative splicing rewires Hippo signaling pathway in hepatocytes to promote liver regeneration.
2018
Nature structural & molecular biology
Bangru S, Arif W, Seimetz J, Bhate A, Chen J +4 more
Plain English This study looked at how liver cells, called hepatocytes, grow back after an injury. Researchers found that lowering a protein called ESRP2 leads to changes in how the liver cells use their genetic instructions, which helps them grow faster—specifically, a rapid increase of new proteins that promote liver regeneration. In mice, removing ESRP2 caused an overload of liver cell growth after injury, while adding more of it slowed down their growth.
Who this helps: This research benefits patients recovering from liver injuries and doctors treating liver diseases.
Intersections of post-transcriptional gene regulatory mechanisms with intermediary metabolism.
2017
Biochimica et biophysica acta. Gene regulatory mechanisms
Arif W, Datar G, Kalsotra A
Plain English This study looked at how gene regulation after transcription (the process of copying DNA into RNA) affects metabolism, which is how our bodies manage energy and nutrients. Researchers found that processes like mRNA stability and noncoding RNAs play key roles in controlling how enzymes are made and broken down, impacting overall metabolism. Understanding these mechanisms is important because they help maintain balance in our body's metabolic functions, which can influence health outcomes significantly.
Who this helps: This research benefits patients with metabolic disorders and doctors treating them.
RNA modifications and structures cooperate to guide RNA-protein interactions.
2017
Nature reviews. Molecular cell biology
Lewis CJ, Pan T, Kalsotra A
Plain English This study looked at how chemical changes to RNA and its folding structure affect how RNA interacts with proteins in the cell. The researchers found that both the modifications and the shape of the RNA are important for controlling gene activity and overall cell function. Understanding these interactions is crucial because it can improve our knowledge of how genes are regulated, which could lead to better treatments for diseases.
Who this helps: Patients with genetic disorders.
Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.
2017
Current opinion in genetics & development
Yum K, Wang ET, Kalsotra A
Plain English The study looked at myotonic dystrophy, a genetic muscle disease that causes muscle stiffness and weakness. Researchers found that as myotonic dystrophy affects successive generations, the genetic changes (repeat expansions) get larger, leading to earlier symptoms and more severe disease. This matters because understanding these changes can help improve the diagnosis and management of the disease.
Who this helps: This helps patients with myotonic dystrophy and their doctors.
Poly(A) tail length regulates PABPC1 expression to tune translation in the heart.
2017
eLife
Chorghade S, Seimetz J, Emmons R, Yang J, Bresson SM +4 more
Plain English This research studied how a protein called PABPC1 affects the heart's ability to produce other proteins, especially during stress or when the heart is growing larger. The scientists found that the length of a specific part of the mRNA, known as the poly(A) tail, directly influences how much PABPC1 is made, which in turn helps the heart respond to changes in its environment. These findings are important because they reveal a new way that gene activity is controlled in the heart, which could lead to improved treatments for heart conditions.
Who this helps: This helps patients with heart disease and their doctors.
Mov10 suppresses retroelements and regulates neuronal development and function in the developing brain.
2017
BMC biology
Skariah G, Seimetz J, Norsworthy M, Lannom MC, Kenny PJ +5 more
Plain English This study focused on a protein called Mov10 in mice and its role in brain development and function. Researchers found that when Mov10 was missing, it led to early death in embryos and issues with brain cell growth, such as shorter branches in nerve cells. This is important because it shows that Mov10 is critical for proper brain development and could be linked to neurological disorders like autism and Alzheimer’s disease.
Who this helps: This helps patients with neurological disorders and their families.
Maternal Dead-end 1 promotes translation ofby binding the eIF3 complex.
2017
Development (Cambridge, England)
Aguero T, Jin Z, Chorghade S, Kalsotra A, King ML +1 more
Plain English This research examined how a specific protein called Dead-end 1 (Dnd1) influences the development of reproductive cells in embryos. The study found that Dnd1 helps the embryo's cells produce proteins essential for these reproductive cells by interacting with a complex that usually limits this process. This is important because understanding how reproductive cells develop can help address issues related to infertility in adults.
Who this helps: This helps patients facing infertility issues by providing insights into reproductive cell development.
Mdm2 mediates FMRP- and Gp1 mGluR-dependent protein translation and neural network activity.
2017
Human molecular genetics
Liu DC, Seimetz J, Lee KY, Kalsotra A, Chung HJ +2 more
Plain English Researchers studied how specific brain receptors, called Gp1 mGluRs, impact the growth and activity of brain networks by looking at protein translation in nerve cells. They found that activating these receptors increased the activity of neural networks by boosting the frequency of their signals, which depends on the fragile X mental retardation protein (FMRP) and a molecule called Mdm2, which regulates protein levels. This research helps explain how disruptions in these proteins may contribute to conditions like fragile X syndrome and could lead to new ways to address related neurological issues.
Who this helps: This helps patients with fragile X syndrome and other related neurological disorders.
Advances in analyzing RNA diversity in eukaryotic transcriptomes: peering through the Omics lens.
2016
F1000Research
Bangru S, Kalsotra A
Plain English This study looked at how complex types of RNA work in living cells, focusing on methods for analyzing these RNA varieties more accurately and cost-effectively. Researchers highlighted new technologies that improve our ability to detect and quantify different RNA forms, noting that challenges still exist, such as dealing with mixed samples and managing large data sets. Understanding RNA diversity is crucial because it can shed light on how genes are regulated and potentially lead to new treatments for diseases.
Who this helps: This helps researchers and doctors who study genetic diseases and seek new therapies.
Systematic profiling of poly(A)+ transcripts modulated by core 3' end processing and splicing factors reveals regulatory rules of alternative cleavage and polyadenylation.
2015
PLoS genetics
Li W, You B, Hoque M, Zheng D, Luo W +6 more
Plain English This research studied how certain proteins help control a process called alternative cleavage and polyadenylation (APA), which affects how different versions of messenger RNA (mRNA) are created from genes. The team discovered that specific proteins, such as Pcf11 and Fip1, encourage the use of nearby polyadenylation sites, while others like CFI-25/68 support the use of further sites. They found that the positioning of these polyadenylation sites and interactions with splicing factors greatly influence gene expression, which is important for understanding cell development and differentiation.
Who this helps: This research benefits doctors and scientists working on gene regulation and developing targeted therapies for diseases.
Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.
2015
PLoS biology
Jaiswal M, Haelterman NA, Sandoval H, Xiong B, Donti T +5 more
Plain English This study looked at how problems in energy production within cells in the eye can lead to degeneration of photoreceptors, which are essential for vision, especially when exposed to light. Researchers found that a gene called ppr is crucial for keeping photoreceptors healthy under light exposure; without it, the cells make less energy (ATP) and end up absorbing too much of a light-sensitive protein (Rhodopsin), resulting in cell damage. Specifically, losing ppr led to a significant drop in ATP levels and increased Rhodopsin endocytosis, but interestingly, this process occurred without the stress often associated with cell damage.
Who this helps: This research benefits patients with eye diseases like glaucoma and retinal degeneration by providing insights that could lead to new treatment strategies.
ESRP2 controls an adult splicing programme in hepatocytes to support postnatal liver maturation.
2015
Nature communications
Bhate A, Parker DJ, Bebee TW, Ahn J, Arif W +8 more
Plain English This study looked at how a protein called ESRP2 helps liver cells (hepatocytes) develop properly after birth. The researchers found that ESRP2 controls about 20% of the changes in how genes are read (splice isoforms) as the liver matures from neonatal to adult stages in both mice and humans. Understanding this process is important because it sheds light on liver development and potential issues that could arise if this maturation does not occur correctly.
Who this helps: This helps patients with liver conditions, doctors studying liver development, and researchers focused on liver diseases.