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Condition: Rare Diseases

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Total 22 results found since Jan 2013.

< em > SOX17 < /em > Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension
CONCLUSIONS: Common PAH risk variants upstream of the SOX17 promoter reduce endothelial SOX17 expression, at least in part, through differential binding of HOXA5 and ROR-α. Reduced SOX17 expression results in disturbed hPAEC function and PAH. Existing drug compounds can reverse the disturbed SOX17 pulmonary endothelial transcriptomic signature.PMID:37066790 | DOI:10.1161/CIRCULATIONAHA.122.061940
Source: Circulation - April 17, 2023 Category: Cardiology Authors: Rachel Walters Eleni Vasilaki Jurjan Aman Chien-Nien Chen Yukyee Wu Olin D Liang Ali Ashek Olivier Dubois Lin Zhao Farah Sabrin In ês Cebola Jorge Ferrer Nicholas W Morrell James R Klinger Martin R Wilkins Lan Zhao Christopher J Rhodes Source Type: research

Emerging approaches for enabling RNAi therapeutics
Chem Asian J. 2022 Jun 11. doi: 10.1002/asia.202200451. Online ahead of print.ABSTRACTRNA interference (RNAi) is a primitive evolutionary mechanism developed to escape incorporation of foreign genetic material. siRNA has been instrumental in achieving the therapeutic potential of RNAi by theoretically silencing any gene of interest in a reversible and sequence-specific manner. Extrinsically administered siRNA generally needs a delivery vehicle to span across different physiological barriers and load into the RISC complex in the cytoplasm in its functional form to show its efficacy. This review discusses the designing princ...
Source: Chemistry, an Asian Journal - June 11, 2022 Category: Chemistry Authors: Argha Mario Mallick Archana Tripathi Sukumar Mishra Asmita Mukherjee Chiranjit Dutta Ananya Chatterjee Rituparna Sinha Roy Source Type: research

Principles of translational gene therapy for neuromuscular diseases
This article describes the principles of precision gene therapy for neurogenetic diseases using examples of neuromuscular diseases.DISCUSSION: Various strategies of gene therapy have become established and are being tested in preclinical and clinical trials and evaluated as approved forms for long-term efficacy. The aim of every gene therapy is the modification or introduction of the target gene with initiation of a degradation of dysfunctional proteins. Various techniques, such as gene transfer, gene substitution or gene editing in vivo and ex vivo are now usable. For example, a modification of the pre-mRNA using antisens...
Source: Der Nervenarzt - April 6, 2022 Category: Neurology Authors: B Schoser Source Type: research

Novel treatment options for acute hepatic porphyrias
Purpose of review Acute hepatic porphyrias (AHP) are a group of rare diseases that are characterized by episodic acute neurovisceral pain episodes caused by abnormal accumulation of the neurotoxic porphyrin precursor delta-aminolevulinic acid (ALA). Patient with frequent recurrent acute attacks have been difficult to treat and these patients sometimes require liver transplantation. Recent developments in small interfering RNA (siRNA)-based therapy led to the development of an effective prophylactic treatment for patients with frequent recurrent attacks. This review will describe treatment options for AHP and highlight ...
Source: Current Opinion in Gastroenterology - April 9, 2021 Category: Gastroenterology Tags: LIVER: Edited by Don C. Rockey Source Type: research

Givosiran to treat acute porphyria.
Authors: Honor A, Rudnick SR, Bonkovsky HL Abstract Porphyrias are a family of rare diseases chiefly due to inborn errors of heme biosynthesis. The porphyrias are generally characterized either by the main site of overproduction of heme precursors (hepatic or erythropoietic) or the main clinical manifestations (acute or cutaneous). The regulation of 5- (or δ)-aminolevulinic acid synthase 1 (ALAS1) plays a key role in the pathway of normal hepatic heme synthesis, providing insight into the pathophysiologic mechanisms and potential therapeutic targets for the treatment of the porphyrias. Givosiran (Givlaari; Alnylam...
Source: Drugs of Today - February 18, 2021 Category: Drugs & Pharmacology Tags: Drugs Today (Barc) Source Type: research

Patisiran for the treatment of patients with familial amyloid polyneuropathy.
Authors: Rizk M, Tüzmen S Abstract Onpattro, also commonly known as patisiran, is a small interfering RNA (siRNA) molecule packaged within a lipid nanoparticle and is transported into the cell to target transthyretin gene (TTR) messenger mRNA (mRNA) by attaching to its complementary sequence. The target mRNA is degraded and both mutant and wild-type amyloid transthyretin (ATTR) protein production becomes suppressed. This drug was developed by Alnylam Pharmaceuticals to treat a rare disease called hereditary ATTR (hATTR) amyloidosis. This disease develops as a result of the deposition of toxic aggregates of misfold...
Source: Drugs of Today - May 28, 2019 Category: Drugs & Pharmacology Tags: Drugs Today (Barc) Source Type: research

Gene Therapy Leaves a Vicious Cycle
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - April 23, 2019 Category: Cancer & Oncology Source Type: research

Correcting the F508del-CFTR variant by modulating eukaryotic translation initiation factor 3-mediated translation initiation Cell Biology
Inherited and somatic rare diseases result from>200,000 genetic variants leading to loss- or gain-of-toxic function, often caused by protein misfolding. Many of these misfolded variants fail to properly interact with other proteins. Understanding the link between factors mediating the transcription, translation, and protein folding of these disease-associated variants remains a major challenge in cell biology. Herein, we utilized the cystic fibrosis transmembrane conductance regulator (CFTR) protein as a model and performed a proteomics-based high-throughput screen (HTS) to identify pathways and components affecting the fo...
Source: Journal of Biological Chemistry - August 31, 2018 Category: Chemistry Authors: Darren M. Hutt, Salvatore Loguercio, Daniela Martino Roth, Andrew I. Su, William E. Balch Tags: Cell Biology Source Type: research

The cutting-edge technologies of siRNA delivery and their application in clinical trials.
Abstract siRNA therapeutics allows precise regulation of disease specific gene expression to treat various diseases. Although gene silencing approaches using siRNA therapeutics shows some promising results in the treatment of gene-related diseases, the practical applications has been limited by problems such as inefficient in vivo delivery to target cells and nonspecific immune responses after systemic or local administration. To overcome these issues, various in vivo delivery platforms have been introduced. Here we provide an overview for three different platform technologies for the in vivo delivery of therapeut...
Source: Archives of Pharmacal Research - August 22, 2018 Category: Drugs & Pharmacology Authors: Lee K, Jang B, Lee YR, Suh EY, Yoo JS, Lee MJ, Lee JY, Lee H Tags: Arch Pharm Res Source Type: research