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JCI online early table of contents: April 19, 2010

Researchers have identified small molecules that bind to TrkB, a protein involved in nerve cell survival, and demonstrated their potential in treating neurodegenerative conditions. Additionally, a new compound has been found to prevent anaphylactic shock by targeting the SphK1-S1P pathway, which may lead to the development of new thera...

SourceJCI Journals·JournalJournal of Clinical Investigation·DateApr 19, 2010

Breathe easy with the protein LPCAT1

Researchers identified LPCAT1 as a key protein in lung surfactant production, essential for air breathing transition in mice. Decreased LPCAT1 expression may underlie fatal respiratory distress syndrome in premature infants.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateApr 19, 2010

Researchers harness the power of plants to fight hemophilia

A new plant-based system has been developed to help hemophilia patients build tolerance to their treatment, reducing the risk of allergic reactions. The system, made from genetically modified plants, can be ingested and releases a tolerated protein into the small intestine, where it can be acted on by the immune system.

SourceUniversity of Florida·JournalProceedings of the National Academy of Sciences·DateMar 30, 2010

Argonautes: A big turn-off for proteins

Johns Hopkins researchers have discovered how Argonaute protein binds to microRNAs, shutting down protein production. This finding sheds light on the regulation of genes and has implications for treating diseases linked to genetic regulation, such as cancer.

SourceJohns Hopkins Medicine·JournalNature Structural & Molecular Biology·DateFeb 1, 2010

JCI online early table of contents: Jan. 11, 2010

Researchers question the safety of gene therapy targeting I-1c in treating heart failure after finding it can cause abnormal heartbeats and sudden death. Additionally, a study reveals that certain anticancer drugs can cause heart failure by triggering PDGFR-beta signaling in heart muscle cells.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateJan 11, 2010

New suppressor of common liver cancer

Researchers have identified SCARA5 as a candidate tumor suppressor gene in human hepatocellular carcinoma (HCC), a form of liver cancer. Genetic and epigenetic silencing of SCARA5 is linked to aggressive disease, including tumor invasion into blood vessels.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 14, 2009

New genetic cause of a fatal immune disorder

Researchers have discovered a new genetic cause of familial hemophagocytic lymphohistiocytosis (FHL) type 5, a fatal immune disorder. The condition is caused by mutations in the Munc18-2 gene, leading to impaired release of death-inducing molecules from immune cells.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateNov 2, 2009

'Moonlighting' molecules discovered

Researchers at Johns Hopkins Medicine have identified over 300 proteins that control genes, a newly discovered function for previously known proteins. These 'moonlighting' molecules may play a key role in human complexity, with potential implications for understanding gene regulation and cellular behavior.

SourceJohns Hopkins Medicine·JournalCell·DateOct 29, 2009

UCLA study identifies 2 chemicals that could lead to new drugs for genetic disorders

Researchers identified two chemicals that correctly process essential proteins in cells, potentially leading to new treatments for cancers and neurodegenerative diseases. This breakthrough could benefit millions of people worldwide suffering from genetic disorders, including ataxia-telangiectasia and muscular dystrophy.

SourceUniversity of California - Los Angeles·JournalJournal of Experimental Medicine·DateSep 28, 2009

The 'S' stands for surprise

Researchers found that mice lacking protein S suffered massive blood clots and defective blood vessels, highlighting the protein's dual role in coagulation and inflammation. Protein S also binds to receptors that regulate immune responses, suggesting new targets for gene therapy.

SourceSalk Institute·JournalJournal of Clinical Investigation·DateSep 1, 2009

New genes at work in patients with hereditary lung disease

Researchers at University of Florida have safely given new genes to patients with alpha-1 antitrypsin deficiency, enabling them to produce trace amounts of the protective protein for up to one year. This potential step toward a gene therapy could benefit approximately 100,000 Americans with the condition.

SourceUniversity of Florida·JournalProceedings of the National Academy of Sciences·DateAug 10, 2009

JCI online early table of contents: Aug. 10, 2009

Researchers have identified a new gene, PTRF, which causes mutations leading to muscle weakness and lipodystrophy. The study found that these individuals had deficient caveolin-3 protein in their muscles, despite no mutations in the caveolin-3 gene.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateAug 10, 2009

New gene linked to muscular dystrophy

Mutations in the PTRF gene have been found to cause a form of muscular dystrophy with generalized lipodystrophy. The disease is characterized by progressive skeletal muscle weakness and deficiency of caveolin-3 protein.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateAug 10, 2009

Gene evolution process discovered

Researchers at the University of Leeds have discovered a key mechanism governing gene evolution, revealing that protein REST controls gene expression by binding to specific genetic sequences. This process has been shown to play a leading role in the evolution of intelligence in mammals, particularly in the brain.

SourceUniversity of Leeds·JournalMolecular Biology and Evolution·DateJun 15, 2009

Protein linked to mental retardation controls synapse maturation, plasticity, CSHL team finds

A team of neuroscientists at Cold Spring Harbor Laboratory has discovered the mechanism by which a signaling protein controls the maturation and strength of excitatory synapses. The study, led by Professor Linda Van Aelst, found that oligophrenin-1 stabilizes postsynaptic AMPA receptors, which is essential for proper synaptic function.

SourceCold Spring Harbor Laboratory·JournalGenes & Development·DateJun 1, 2009

Immune genes adapt to parasites

A population genetics study found that parasite-driven selection has left a footprint on human DNA, particularly in immune genes. This variation correlates with parasite diversity and may contribute to the development of inflammatory bowel diseases.

SourceRockefeller University Press·JournalJournal of Experimental Medicine·DateMay 25, 2009

New evidence ties gene to Alzheimer's

Researchers at Johns Hopkins University found a link between genetic variations in the neuroglobin gene and an increased risk of Alzheimer's disease. The study, published in Neurobiology of Aging, suggests that lower levels of neuroglobin may contribute to the development of Alzheimer's.

SourceJohns Hopkins Medicine·JournalNeurobiology of Aging·DateMay 6, 2009

Developing fruit fly embryo is capable of genetic corrections

Researchers discover that fruit fly embryos can 'forget' incorrect body plans and develop into recognizable adult flies through cross-regulation among gap genes. This process, known as canalization, allows for robust development despite variable conditions, shedding light on the mechanisms of genetic interactions.

SourcePLOS·JournalPLOS Biology·DateMar 9, 2009

Relationships in rank and file

Researchers Johannes Soeding and Andreas Biegert have developed a new method called CS-BLAST that takes into account the sequence context to improve similarity searches. This approach can identify twice as many distant relatives of proteins compared to traditional BLAST, leading to better insights into gene and protein functions.

SourceLudwig-Maximilians-Universität München·JournalProceedings of the National Academy of Sciences·DateFeb 23, 2009

Fox Chase researchers give mutants another chance

Fox Chase researchers have shown that manipulating the amount of Hsp70 can restore function to mutated proteins, which could potentially reduce severity or correct certain hereditary diseases. By modifying the chaperone environment, they hope to give Hsp70 better opportunities to rescue broken proteins.

SourceFox Chase Cancer Center·JournalJournal of Biological Chemistry·DateFeb 11, 2009