A new study reveals that defects in peripheral tissues contribute to SMA pathology, and systemic antisense oligonucleotides (ASOs) increase survival time by 25-fold. ASO treatment also restores normal IGF-1 levels, which are reduced in untreated mice with severe SMA.
Scientists at CSHL have discovered that a 27-gene cluster deletion on chromosome 16 causes autism-like features. Mouse models revealed that inheriting fewer copies of these genes leads to behaviors and brain alterations characteristic of autism.
Scientists at Cold Spring Harbor Laboratory have identified a new approach to treating diabetes and obesity by targeting the PTP1B enzyme, which is crucial in regulating insulin signaling. By oxidizing a specific cysteine residue, the enzyme's activity is temporarily halted, allowing for improved insulin sensitivity.
A study by CSHL and USC researchers reveals that methylation patterns are dynamic and can influence cell fate. The team observed that subtle changes in methylation within specific regions can lead to the activation of genes associated with particular cell types, challenging traditional views on epigenetics.
Neuroscientists at CSHL develop genetic 'GPS' system to comprehensively label GABA neurons, enabling real-time tracking and manipulation. The system uses Cre-Lox recombination to create cell-type specific markers, allowing for the study of inhibitory modulation in living brains.
The study reveals that methylation changes in humans and chimps have co-evolved over 6 million years, driving changes in DNA sequences and characteristics. This finding challenges the conventional understanding of how methylation affects gene expression.
Researchers investigated the dynamics of virus populations in the human gut during dietary changes, finding that viral populations became more similar over time. The study provided new insights into the 'gut virome' and its response to diet, shedding light on potential health consequences.
Researchers discovered that chaperonins are necessary for KN1 protein trafficking between plant cells via plasmodesmata, which helps establish and maintain stem cell populations. This signaling pathway is vital for plant development and growth, allowing cells to communicate and influence each other.
Research at Cold Spring Harbor Laboratory reveals that fruit flies' mushroom body neurons represent odors in a consistently sparse fashion, with patterns of firing being randomly distributed within the brain area. This finding suggests that the fly's brain uses sparsity to form accurate memories.
Researchers discovered striking similarities in gene expression patterns between healthy aging and neurodegenerative diseases, including Alzheimer's. Aging-related changes were found in individuals as young as 50, contradicting previous expectations.
Researchers found that PHLPP1 and PTEN tumor suppressor genes work together to prevent lethal prostate cancer. The study suggests that monitoring gene transcription activity could predict patient outcomes and identify best candidates for clinical trials.
Researchers at Cold Spring Harbor Laboratory identify Brd4 as a novel drug target for acute myeloid leukemia, an aggressive blood cancer. The new therapeutic agent, JQ1, shows remarkable anti-leukemia activity and minimal toxicity to non-cancerous cells.
Researchers at Cold Spring Harbor Laboratory have identified the role of a gene called grassy tillers1 (gt1) in enabling maize plants to grow taller when shaded. This discovery sheds light on the genetic mechanisms behind plant architecture modifications that occurred during domestication.
Researchers reveal that MLL-AF9 hijacks Myb to enforce aberrant self-renewal in leukemia cells. Inhibiting Myb results in rapid and complete eradication of cancer, validating a new approach for targeting oncogene addiction in vivo.
A new knowledgebase, Kbase, will integrate disparate data streams on plants and microbes to facilitate question-asking about huge datasets. This will help make progress on improved ways to generate biofuels and optimize plant yields.
The Collaborative Cross mouse strains have been used to map causative loci for complex traits like body weight and white head-spotting, showcasing the power of ancestry-based approaches. The studies also revealed the scope of phenotypic variation present in the CC lines, providing insights into breeding effects on genetic structure.
A team of researchers at CSHL identified the PTPN23 enzyme as a significant regulator of breast cancer development. Suppressing its expression in human mammary cells led to a cascade of effects, including cell scattering, invasion through extracellular matrix, and metastasis.
A recent study on leaf-cutting ants has sequenced their genome, revealing key adaptations behind their unique social behavior and fungus farming lifestyle. The research found that specific genes are involved in mating system adaptations and symbiotic food processing with the fungus.
Rob Martienssen, CSHL professor, joins prestigious HHMI-GBMF initiative to accelerate basic research in fundamental plant sciences. He will receive flexible support to move his research efforts in creative new directions.
Structural biologists at CSHL have obtained a precise molecular map of an allosteric inhibitor's binding site in the GluN1/GluN2B NMDA receptor subtype. This discovery enables the design of highly specific compounds with minimal side effects for treating neurological diseases.
A clinically extensive study of 1000 families with one autistic child and one unaffected sibling validated the importance of spontaneous causal mutations in autism. The study estimates a minimum of 250 to 300 locations in the human genome where gene copy number variation can give rise to autism spectrum disorder.
Researchers find that melanoma cells can develop an invasive phenotype when exposed to anti-melanoma drugs, leading to relapse. Blocking CCL2 or its upstream effectors may represent a novel therapeutic approach.
A study from Cold Spring Harbor Laboratory suggests that adult stem cells in the brain are 'disposable' and lose their ability to produce neurons with age, leading to a decline in new neuron production. This decline may contribute to age-related cognitive decline.
The study reveals a unique conformation of the GluN2D subunit that mediates slow neuronal deactivation when bound to glutamate, a key neurotransmitter. This discovery can form a basis for designing new drugs targeting this receptor variant, implicated in various neurodegenerative diseases.
Researchers perfect a method to temporarily turn off essential genes in adult mice without killing them, allowing for reversible gene silencing. This breakthrough enables testing of therapeutic targets and evaluation of their efficacy and side effects.
A study at Cold Spring Harbor Laboratory has identified a therapeutic target for liver cancer using a monoclonal antibody that blocks the activity of the FGF19 gene. This approach shows promise in treating patients with FGF19 amplification, which can be used as a biomarker to predict treatment effectiveness.
A new analysis method by CSHL team suggests tumors grow through 'punctuated, clonal expansions,' providing insights into tumor growth and metastasis. By analyzing single cells from breast cancer samples, the researchers inferred three distinct subpopulations of tumor cells, each with highly similar genomic profiles.
Researchers have identified a pattern of DNA sequence called microhomology that plays a key role in the formation of gene fusions in pediatric brain tumors. This discovery sheds light on how these genomic rearrangements form in the early stages of cancer and may have implications for understanding other types of cancers.
A CSHL-led team developed a powerful method to identify potent RNAi triggers, allowing biologists to fully exploit this natural mechanism. The approach revealed new insights into small RNA biogenesis and improved the recipe for creating potent RNAi triggers.
Researchers have cataloged T-cell receptor diversity in blood samples from healthy individuals, identifying over 1 million unique sequences. The study provides insights into the limitations and variability of immune system repertoires.
Researchers have identified a previously overlooked brain area, the lateral habenula, as a prime locus of human depression. The area's hyperactivity is linked to depression-like symptoms and may be targeted by deep brain stimulation (DBS) for treatment.
Researchers at Cold Spring Harbor Laboratory have identified a new role for the sister gene of p53, p63, in skin cancer and stem cell biology. The study reveals that increased activity of Ras combined with overly exuberant activity of ΔNp63α stimulates skin stem cells to promote carcinoma development.
The February issue of Cold Spring Harbor Protocols features a method for quantitative proteomic profiling using laser capture microdissection and nanoscale liquid chromatography/tandem mass spectrometry. Immunoimaging is also explored, with methods for studying immune system dynamics using two-photon microscopy.
A recent study published in Genome Research found that certain regions of the human genome are more similar to those of orangutans than chimpanzees, contrary to previous assumptions. This suggests that humans and orangutans shared a common ancestor with high genetic diversity, while chimpanzees may have experienced a genetic bottleneck.
Researchers at Cold Spring Harbor Laboratory have made a breakthrough in understanding how neural circuits self-assemble. By observing the formation of inhibitory synapses, they found that GABA transmission regulates synaptic adhesion. The discovery sheds light on neurodevelopmental disorders such as autism and schizophrenia.
Researchers at Cold Spring Harbor Laboratory discovered that two non-coding RNAs, MENε and MENβ, trigger the formation of nuclear subcompartments called paraspeckles. Paraspeckles are believed to serve as storage depots for pre-made protein-coding RNA, allowing cells to respond faster to stress.
A new study found that deep brain stimulation (DBS) targets the same class of neuronal cells known to respond to exercise and Prozac, leading to an increase in new neurons in the hippocampus. The targeted area, anterior thalamic nucleus, may provide a guide for designing better treatments.
Scientists have identified age-related gene-specific accumulation of DNA methylation that suppresses the critical TGF-beta pathway contributing to ovarian carcinogenesis. This finding provides crucial information for future translational research and may lead to targeted therapeutic interventions.
Scientists have analyzed the evolution of CRISPR bacterial immune systems in human saliva over time, revealing unique and traceable defenses against viruses. The study's findings suggest that the development of resistance to viruses occurs frequently, even daily, and could lead to more personalized oral health care.
Two methods for culturing and imaging Caenorhabditis elegans embryos are described, enabling researchers to visualize dynamic form and function of molecules, cells, tissues, and whole embryos. Meanwhile, a method for isolating and culturing early mouse embryos is also presented, allowing time-lapse imaging of cell movements.
Researchers used selective breeding of mice to identify a novel gene, AK005651, associated with type 1 diabetes susceptibility. A recombination hotspot helped stack the DNA deck in favor of finding this gene, revealing new clues about genomic mechanisms underlying T1D.
The article reviews standard and cutting-edge laboratory techniques for three-dimensional biological imaging, including confocal microscopy and array tomography. These methods allow for the visualization of previously inaccessible features of tissue structure and molecular architecture.
Researchers have developed a new method to explore the olfactory system in mammals, revealing that there are many more information output channels leaving the olfactory bulb than previously thought. This complexity may help the brain rapidly make accurate odor distinctions.
A team of scientists has made significant progress in understanding how the brain's 'hearing center' processes sound by mapping its acoustic space. They discovered that neurons within the auditory cortex respond to sounds based on their frequency, but also found an unexpected out-of-column pattern for some neurons.
Researchers identified biomarkers associated with radiation response that could help tailor individual cancer treatments. The study employed a pharmacogenomics approach, integrating genome-wide data to find genetic variants and gene expression patterns linked to radiation response.
This article features protocols for investigating histone demethylase activity, including methods for detecting cytosine methylation in RNA using bisulfite sequencing. These methods enable researchers to measure histone demethylase activity in tissues and cell lysates, identify novel enzymes, and screen for inhibitors.
Historians uncover previously unseen correspondence between Francis Crick and Maurice Wilkins, revealing a tangled web of ambition and institutional politics. The letters provide fresh insights into the personalities of the discoverers and their roles in the discovery of DNA's double helix structure.
A new study found that a Peruvian parasite population had significant genetic instability near the telomere, leading to missed diagnoses from rapid diagnostic tests. The researchers also identified a gene mutation that confers resistance to clindamycin, a commonly administered drug for treating malaria in pregnant women and infants.
Two assays, GCR and RQPS, are used to investigate the genetic basis of cancer by measuring chromosomal rearrangements and gene copy numbers. These methods provide insight into pathways that suppress genomic instability in yeast and humans.
Researchers successfully reshaped the gut microbiome of rats, inducing long-term changes that could lead to new treatments for intestinal diseases. The study found that transplantation alone was sufficient to introduce new species into the intestinal microbial composition.