New gene therapy corrects a form of inherited macular degeneration in canine model

(University of Pennsylvania) Researchers from the University of Pennsylvania have developed a gene therapy that successfully treats a form of macular degeneration in a canine model. The work sets the stage for translating the findings into a human therapy for an inherited disease that results in a progressive loss of central vision and which is currently untreatable.
Source: EurekAlert! - Biology - Category: Biology Source Type: news

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Mutations in theCTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease. More than 140CTNS mutations have been reported worldwide. Recent studies have discovered that cystinosin exerts other key cellular functions beyond cystine transport such as regulation of oxidative state, lysosomal dynamics and autophagy. Here, we review the different mutations described in theCTNS gene and the geographical distribution of incidence. In addition, the characteristics of the various mutations in relation to the functions of cystinosin needs to...
Source: Nephron - Category: Urology & Nephrology Source Type: research
Conclusion: We reported the synergistic anti-tumor efficacy of ZD55-IL-24 and DTX on prostate cancer. Our results suggest that chemotherapy combined with oncolytic adenovirus mediated gene therapy is a promising strategy for the treatment of advanced prostate cancer.
Source: Journal of Cancer - Category: Cancer & Oncology Authors: Tags: Research Paper Source Type: research
LncRNA SNHG14 promotes inflammatory response induced by cerebral ischemia/reperfusion injury through regulating miR-136-5p /ROCK1, Published online: 14 December 2018; doi:10.1038/s41417-018-0067-5LncRNA SNHG14 promotes inflammatory response induced by cerebral ischemia/reperfusion injury through regulating miR-136-5p /ROCK1
Source: Cancer Gene Therapy - Category: Cancer & Oncology Authors: Source Type: research
Down-regulated long non-coding RNA RNAZFHX4-AS1 suppresses invasion and migration of breast cancer cells via FAT4-dependent Hippo signaling pathway, Published online: 14 December 2018; doi:10.1038/s41417-018-0066-6Down-regulated long non-coding RNA RNAZFHX4-AS1 suppresses invasion and migration of breast cancer cells via FAT4-dependent Hippo signaling pathway
Source: Cancer Gene Therapy - Category: Cancer & Oncology Authors: Source Type: research
Mutations in the gene encoding the protein kinase CDKL5 cause a debilitating neurodevelopmental disease termed CDKL5 disorder. The impact of these mutations on CDKL5 function is poorly understood because the substrates and cellular processes controlled by CDKL5 are unclear. Here, we describe a quantitative phosphoproteomic screening which identified MAP1S, CEP131 and DLG5—regulators of microtubule and centrosome function—as cellular substrates of CDKL5. Antibodies against MAP1S phospho-Ser900 and CEP131 phospho-Ser35 confirmed CDKL5-dependent phosphorylation of these targets in human cells. The phospho-acceptor...
Source: EMBO Journal - Category: Molecular Biology Authors: Tags: Cell Adhesion, Polarity & Cytoskeleton, Genetics, Gene Therapy & Genetic Disease, Post-translational Modifications, Proteolysis & Proteomics Resource Source Type: research
Loss-of-function mutations in CDKL5 kinase cause severe neurodevelopmental delay and early-onset seizures. Identification of CDKL5 substrates is key to understanding its function. Using chemical genetics, we found that CDKL5 phosphorylates three microtubule-associated proteins: MAP1S, EB2 and ARHGEF2, and determined the phosphorylation sites. Substrate phosphorylations are greatly reduced in CDKL5 knockout mice, verifying these as physiological substrates. In CDKL5 knockout mouse neurons, dendritic microtubules have longer EB3-labelled plus-end growth duration and these altered dynamics are rescued by reduction of MAP1S le...
Source: EMBO Journal - Category: Molecular Biology Authors: Tags: Cell Adhesion, Polarity & Cytoskeleton, Genetics, Gene Therapy & Genetic Disease, Post-translational Modifications, Proteolysis & Proteomics Articles Source Type: research
Mutation or inactivation of CDKL5 kinase is associated with a human neurodevelopmental condition commonly referred to as CDKL5 deficiency disorder.§ Two recent phosphoproteomics studies identify the first physiological substrates of mammalian CDKL5 and evaluate functional consequences of their phosphorylation and its loss in cells lacking functional CDKL5, highlighting potential roles for this kinase in regulating neuronal microtubule dynamics.
Source: EMBO Journal - Category: Molecular Biology Authors: Tags: Cell Adhesion, Polarity & Cytoskeleton, Genetics, Gene Therapy & Genetic Disease, Post-translational Modifications, Proteolysis & Proteomics News [amp ] Views Source Type: research
Orchard Therapeutics is tackling "bubble baby" disease and other rare genetic conditions with gene therapy.
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
There are any number of reasons why promising lines of research get stuck. Simple abandonment is a surprisingly common one; people outside the scientific community have little appreciation of the degree to which the floor of the forest is littered with valuable raw materials, just waiting for someone to spend the effort to forge them into useful goods. Many researchers have little interest in implementation, or fail to convince funding sources to continue their initial exploration, or the people involved move on, or the tools are hard to use and no-one else wants to make the effort to replicate the discoveries. It is somet...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
Conditions:   Refractory B-Cell Non-Hodgkin Lymphoma;   Refractory B-Cell Small Lymphocytic Lymphoma;   Relapsed Adult ALL;   Relapsed CLL;   Relapsed Non Hodgkin Lymphoma Interventions:   Genetic: CD19.CAR-aNKT cells;   Drug: Cyclophosphamide;   Drug: Fludarabine Sponsors:   Baylor College of Medicine;   Center for Cell and Gene Therapy, Baylor College of Medicine;   Texas Children's Hospital;   The Methodist Hospital System Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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