Results 81 to 90 of about 1,551 (185)

Acute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges. [PDF]

Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway.
Beaven, Simon, Fong, Kelly, Rudnick, Samuel, VanderVeen, Nathan, West, Nicole   +4 more
core   +1 more source

Porfiria aguda intermitente - afecções e tratamentos em pacientes transplantados e não transplantados: uma mini revisão [PDF]

, 2023
As porfirias são doenças raras que possuem causas patológicas e hereditárias e são divididas em alguns grupos, dentre eles a hepática aguda que possui como subtipo de maior relevância clínica a porfiria aguda intermitente.
Haubert, Isabelly Cristina, Jaime, Jivago Carneiro, Martins, Pedro Sardinha Leonardo Lopes, Silva, Maria Eduarda Nunes, Sousa, Maria Alice Cavalcante, Vieira, Isabela Junqueira   +5 more
core   +1 more source

Nano Approaches to Nucleic Acid Delivery: Barriers, Solutions, and Current Landscape

WIREs Nanomedicine and Nanobiotechnology, Volume 17, Issue 2, March/April 2025.
Nano approaches for breaking barriers to nucleic acid delivery. ABSTRACT Nucleic acid (NA) therapy holds tremendous potential for treating a wide range of genetic diseases by the delivery of therapeutic genes into target cells. However, significant challenges exist in safely and effectively delivering these genes to their intended locations.
Joan Castaneda Gonzalez, Ki Wan Park, Dallin Brian Evans, Rishi Sharma, Om Sahaym, Shamila Gopalakrishnan, Aqib Iqbal dar, Tulio A. Valdez, Anjali Sharma   +8 more
wiley   +1 more source

Overcoming Barriers for siRNA Therapeutics: From Bench to Bedside [PDF]

, 2020
The RNA interference (RNAi) pathway possesses immense potential in silencing any gene in human cells. Small interfering RNA (siRNA) can efficiently trigger RNAi silencing of specific genes.
Cho, Kayley Yeseom, Kato, Shun, Moazzam, Muhammad, Sajid, Muhammad Imran, Tiwari, Rakesh Kumar   +4 more
core   +2 more sources

Liver transplantation and primary liver cancer in porphyria

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing, Bruce Wang, Staffan Wahlin   +2 more
wiley   +1 more source

Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)

Brain Disorders
We report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C.
Julien Lerusse, Dominique Dive, François Charles Wang   +2 more
doaj   +1 more source

Exploring precision treatments in immune‐mediated inflammatory diseases: Harnessing the infinite potential of nucleic acid delivery

Exploration, Volume 5, Issue 1, February 2025.
Within this review, an in‐depth exploration of therapeutic nucleic acids and their delivery mechanisms in immune‐mediated inflammatory diseases (IMIDs) is presented. The review encapsulates key elements such as different types of nucleic acid molecules, delivery systems for nucleic acids, and the therapeutic use of nucleic acid delivery for IMIDs ...
Lingxiao Xu, Zhenxuan Shao, Xia Fang, Zengfeng Xin, Shenzhi Zhao, Hongbo Zhang, Yu Zhang, Wenbiao Zheng, Xiaohua Yu, Zengjie Zhang, Lingling Sun   +10 more
wiley   +1 more source

Low Proarrhythmic Risk of Imetelstat, a Novel Oligonucleotide Telomerase Inhibitor: A Translational Analysis

Clinical and Translational Science, Volume 18, Issue 2, February 2025.
ABSTRACT Evaluation of the proarrhythmic potential of imetelstat, a novel oligonucleotide telomerase inhibitor, in nonclinical and clinical studies is presented. In vitro, imetelstat sodium ≤ 750 μg/mL and negative (vehicle) and positive (cisapride) controls were evaluated for hERG channel current inhibition.
Ashley L. Lennox, Libo Sun, Fei Huang, Melissa Kelly Behrs, Robert Kleiman, Hongqi Xue, Neha Bhise, Ying Wan, Tymara Berry, Faye Feller, Peter N. Morcos   +10 more
wiley   +1 more source

Principle, application and challenges of development siRNA-based therapeutics against bacterial and viral infections: a comprehensive review

Frontiers in Microbiology
While significant progress has been made in understanding and applying gene silencing mechanisms and the treatment of human diseases, there have been still several obstacles in therapeutic use. For the first time, ONPATTRO, as the first small interfering
Hamid Motamedi, Hamid Motamedi, Marzie Mahdizade Ari, Marzie Mahdizade Ari, Amirhoushang Alvandi, Amirhoushang Alvandi, Ramin Abiri, Ramin Abiri   +7 more
doaj   +1 more source

Oligonucleotide therapeutics in sports? An antidoping perspective

Archiv der Pharmazie, Volume 358, Issue 1, January 2025.
Several gene therapies including oligonucleotide therapeutics have been approved during the last 20 years. In sports, the use of nucleic acids or nucleic acid analogs is prohibited. This review discusses types of oligonucleotide therapeutics, their potential to be misused in sports, and considerations to sample preparation and mass spectrometric ...
Maria K. Parr, Annekathrin M. Keiler
wiley   +1 more source