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HIV-1 Vif protein sequence variations in South African people living with HIV and their influence on Vif-APOBEC3G interaction
PurposeDespite extensive research, HIV-1 remains a global epidemic with variations in pathogenesis across regions and subtypes. The Viral Infectivity...
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Increased vascular smooth muscle cell senescence in aneurysmal Fibulin-4 mutant mice
Aortic aneurysms are dilatations of the aorta that can rupture when left untreated. We used the aneurysmal Fibulin-4 R/R mouse model to further...
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Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease
Alzheimer disease (AD) is a leading cause of dementia in elderly patients who continue to live between 3 and 11 years of diagnosis. A steep rise in...
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WNT5A-ROR2 axis mediates VEGF dependence of BRAF mutant melanoma
PurposeDespite recent advances, approximately 50% of patient with metastatic melanoma eventually succumb to the disease. Patients with melanomas...
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Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
A cell’s ability to survive and to evade cancer is contingent on its ability to retain genomic integrity, which can be seriously compromised when...
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Properties of Spontaneous rpsL Mutant of Streptomyces albus KO-1297
AbstractThe Streptomyces albus J1074 strain remains one of the most popular platforms for the discovery of new natural compounds due to the...
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A sequence-based global map of regulatory activity for deciphering human genetics
Epigenomic profiling has enabled large-scale identification of regulatory elements, yet we still lack a systematic map** from any sequence or...
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Gene therapy restores mitochondrial function and protects retinal ganglion cells in optic neuropathy induced by a mito-targeted mutant ND1 gene
Therapies for genetic disorders caused by mutated mitochondrial DNA are an unmet need, in large part due barriers in delivering DNA to the organelle...
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Elucidation of Site-Specific Ubiquitination on Chaperones in Response to Mutant Huntingtin
Huntington's disease (HD) is one of the prominent neurodegenerative diseases, characterized by the progressive decline of neuronal function, due to...
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Bone Marrow-Derived Alk1 Mutant Endothelial Cells and Clonally Expanded Somatic Alk1 Mutant Endothelial Cells Contribute to the Development of Brain Arteriovenous Malformations in Mice
We have previously demonstrated that deletion of activin receptor-like kinase 1 ( Alk1 ) or endoglin in a fraction of endothelial cells (ECs) induces...
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LRRK2 mutant knock-in mouse models: therapeutic relevance in Parkinson's disease
Mutations in the leucine-rich repeat kinase 2 gene ( LRRK2 ) are one of the most frequent genetic causes of both familial and sporadic Parkinson’s...
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Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation
Mutations in FUS, an RNA-binding protein involved in multiple steps of RNA metabolism, are associated with the most severe forms of amyotrophic...
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Mutant K-Ras Mediated Oxidative Stress in Pancreatic Cancer
Pancreatic ductal adenocarcinoma (PDAC) is one of the highly lethal cancers with dismal prognosis due to lack of effective targeted therapies and...
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Knockdown of Golgi Stress-Responsive Caspase-2 Ameliorates HLD17-Associated AIMP2 Mutant-Mediated Inhibition of Oligodendroglial Cell Morphological Differentiation
Hypomyelinating leukodystrophy 17 is an autosomal recessive disease affecting myelin-forming oligodendroglial cells in the central nervous system....
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Cell-type-specific DNA methylation analysis of the frontal cortices of mutant Polg1 transgenic mice with neuronal accumulation of deleted mitochondrial DNA
Bipolar disorder (BD) is a severe psychiatric disorder characterized by repeated conflicting manic and depressive states. In addition to genetic...
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Sequence-based modeling of three-dimensional genome architecture from kilobase to chromosome scale
To learn how genomic sequence influences multiscale three-dimensional (3D) genome architecture, this manuscript presents a sequence-based...
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HDAC inhibitor ITF2357 reduces resistance of mutant-KRAS non-small cell lung cancer to pemetrexed through a HDAC2/miR-130a-3p-dependent mechanism
BackgroundHistone deacetylases (HDAC) contribute to oncogenic program, pointing to their inhibitors as a potential strategy against cancers. We,...
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Sequence determinants of human gene regulatory elements
DNA can determine where and when genes are expressed, but the full set of sequence determinants that control gene expression is unknown. Here, we...
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A novel D-amino acid peptide with therapeutic potential (ISAD1) inhibits aggregation of neurotoxic disease-relevant mutant Tau and prevents Tau toxicity in vitro
BackgroundAlzheimer’s disease (AD), the most common form of dementia, is a progressive neurodegenerative disorder that mainly affects older adults....
