Results 251 to 260 of about 172,174 (293)
Some of the next articles are maybe not open access.
Development of Mitochondrial Gene Replacement Therapy
Journal of Bioenergetics and Biomembranes, 2004Many "classic" mitochondrial diseases have been described that arise from single homoplasmic mutations in mitochondrial DNA (mtDNA). These diseases typically affect nonmitotic tissues (brain, retina, muscle), present with variable phenotypes, can appear sporadically, and are untreatable. Evolving evidence implicates mtDNA abnormalities in diseases such
Shaharyar M, Khan, James P, Bennett
openaire +2 more sources
Treatment of haemophilia: From replacement to gene therapy
Medicina Clínica (English Edition), 2021Haemophilia A and B are congenital bleeding disorders characterized by missing or defective factor VIII or factor IX, respectively. Factor replacement therapy has been the gold standard for prophylaxis and treatment of bleeding complications. However, the inconvenience of regular intravenous administration, along with progression of arthropathy and ...
openaire +2 more sources
Prospects for gene replacement therapies in amyotrophic lateral sclerosis
Nature Reviews Neurology, 2022Amyotrophic lateral sclerosis (ALS) is a devastating and incurable neurodegenerative disease characterized by the progressive loss of upper and lower motor neurons. ALS causes death, usually within 2-5 years of diagnosis. Riluzole, the only drug currently approved in Europe for the treatment of this condition, offers only a modest benefit, increasing ...
Ilaria Giovannelli +4 more
openaire +2 more sources
Gene replacement therapy for retinal CNG channelopathies
Molecular Genetics and Genomics, 2013Visual phototransduction relies on the function of cyclic nucleotide-gated channels in the rod and cone photoreceptor outer segment plasma membranes. The role of these ion channels is to translate light-triggered changes in the second messenger cyclic guanosine 3'-5'-monophosphate levels into an electrical signal that is further processed within the ...
Christian, Schön +2 more
openaire +2 more sources
Enzyme replacement and gene therapy for Gaucher's disease
Lipids, 1996AbstractThe lipid storage disorders have long been considered primary candidates for enzyme replacement therapy. This goal has been achieved with a remarkable degree of success in Gaucher's disease. Among the accomplishments that were important to obtain clinical benefit were the development of a large‐scale procedure to purify human placental ...
R O, Brady, N W, Barton
openaire +2 more sources
Gene Therapy for Dopamine Replacement in Parkinson´s Disease
Science Translational Medicine, 2009The introduction of l -dopa ( l -3,4-dihydroxyphenylalanine) therapy 40 years ago was a revolution in the treatment of patients with Parkinson´s disease (PD). With time, however, the shortcomings of oral l -dopa medication became apparent, in particular the appearance ...
Anders, Björklund +2 more
openaire +2 more sources
Charting the next century of insulin replacement with cell and gene therapies
Med, 2021The discovery of insulin a century ago changed the lives of millions of individuals suffering from diabetes, paving the way for long-term survival. While the availability of recombinant insulin for hormone replacement therapy has served extremely well to help control blood glucose in diabetes, there remains significant room for further improvements for
Hwee Hui Lau +5 more
openaire +3 more sources
Suppression and Replacement Gene Therapy for KCNH2 -Mediated Arrhythmias
Circulation: Genomic and Precision Medicine, 2022Background: KCNH2 -mediated arrhythmia syndromes are caused by loss-of-function (type 2 long QT syndrome [LQT2]) or gain-of-function (type 1 short QT syndrome [SQT1]) pathogenic variants in the KCNH2 -encoded K
Sahej Bains +7 more
openaire +2 more sources
Cell-Replacement and Gene-Therapy Strategies for Parkinson‘s and Alzheimer‘s Disease
Regenerative Medicine, 2007Parkinson's disease and Alzheimer's disease are the most common neurodegenerative diseases in the elderly population. Given that age is the most important risk factor in these diseases, the number of patients is expected to rise dramatically in the coming years. Therefore, an effective therapy for these diseases is highly sought.
Korecka, Joanna A +2 more
openaire +3 more sources
Cellular Engineering and Gene Therapy Strategies for Insulin Replacement in Diabetes
Diabetes, 1994In diabetes, insulin secretion is either completely absent (insulin-dependent diabetes mellitus [IDDM]) or inappropriately regulated (non-insulin-dependent diabetes mellitus [NIDDM]). In recent years, new insights into the molecular and biochemical mechanism(s) of fuel-mediated insulin release coupled with advances in gene transfer technology have led ...
openaire +2 more sources