Results 21 to 30 of about 172,174 (293)

Gene Therapy Developments for Pompe Disease [PDF]

, 2022
Pompe disease is an inherited neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The most severe form is infantile-onset Pompe disease, presenting shortly after birth with symptoms of cardiomyopathy ...
Niek P. van Til, Yoon, John K, Schindler, Jeffrey W, Mason, Chris, John K. Yoon, Zeenath Unnisa, Jeffrey W. Schindler, Chris Mason, Unnisa, Zeenath, van Til, Niek P   +9 more
core   +1 more source

AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives

Orphanet Journal of Rare Diseases, 2022
Mitochondrial diseases are a group of rare, heterogeneous diseases caused by gene mutations in both nuclear and mitochondrial genomes that result in defects in mitochondrial function.
Allison R. Hanaford, Yoon-Jae Cho, Hiroyuki Nakai   +2 more
doaj   +1 more source

Treatment of patients with immunodeficiency: Medication, gene therapy, and transplantation

Jornal de Pediatria, 2021
Objectives: To provide an overview of drug treatment, transplantation, and gene therapy for patients with primary immunodeficiencies. Source of data: Non-systematic review of the literature in the English language carried out at PubMed. Synthesis of data:
Gesmar Rodrigues Silva Segundo, Antonio Condino-Neto   +1 more
doaj   +1 more source

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]

, 2015
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B., Rizzi, M, Nishiguchi, KM, James W. B. Bainbridge, Kate Powell, Joana Ribeiro, Duran, Y, Ribeiro, J, Powell, K, Luhmann, UF, Azam, Selina A., Yanai Duran, Rizzi, Matteo, Livia S. Carvalho, Smith, Alexander J., Holthaus, Sophia Martha Kleine, Robin R. Ali, Ulrich F. O. Luhmann, Carvalho, Livia S., Er J. Smith, Koji M. Nishiguchi, Powell, Kate, Matteo Rizzi, Selina A. Azam, Carvalho, LS, Ali, RR, Holthaus, SM, Sophia-martha Kleine Holthaus, Bainbridge, JW, Ali, Robin R.; id_orcid, Luhmann, Ulrich F.O., Duran, Yanai, Azam, SA, Ribeiro, Joana, Smith, AJ, Nishiguchi, Koji M.   +35 more
core   +1 more source

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W   +69 more
core   +1 more source

A case report of a patient with mucopolysaccharidosis type II

Revista Médica del Hospital General de México, 2017
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega, H. García Vidaña, G. Pacheco Cuéllar, S.A. Cuevas-Covarrubias   +3 more
doaj   +1 more source

Gene-Based Therapeutics for Inherited Retinal Diseases

Frontiers in Genetics, 2022
Inherited retinal diseases (IRDs) are a heterogenous group of orphan eye diseases that typically result from monogenic mutations and are considered attractive targets for gene-based therapeutics.
Beau J. Fenner, Beau J. Fenner, Beau J. Fenner, Tien-En Tan, Tien-En Tan, Tien-En Tan, Amutha Veluchamy Barathi, Sai Bo Bo Tun, Sia Wey Yeo, Andrew S. H. Tsai, Andrew S. H. Tsai, Andrew S. H. Tsai, Shu Yen Lee, Shu Yen Lee, Shu Yen Lee, Chui Ming Gemmy Cheung, Chui Ming Gemmy Cheung, Chui Ming Gemmy Cheung, Choi Mun Chan, Choi Mun Chan, Choi Mun Chan, Jodhbir S. Mehta, Jodhbir S. Mehta, Jodhbir S. Mehta, Jodhbir S. Mehta, Jodhbir S. Mehta, Kelvin Y. C. Teo, Kelvin Y. C. Teo, Kelvin Y. C. Teo   +28 more
doaj   +1 more source

Therapeutic Strategies For Tay-Sachs Disease

Frontiers in Pharmacology, 2022
Tay-Sachs disease (TSD) is an autosomal recessive disease that features progressive neurodegenerative presentations. It affects one in 100,000 live births. Currently, there is no approved therapy or cure.
Jaqueline A. Picache, Wei Zheng, Catherine Z. Chen   +2 more
doaj   +1 more source

Gene therapy for dyslipidemia: a review of gene replacement and gene inhibition strategies [PDF]

Clinical Lipidology, 2010
Despite numerous technological and pharmacological advances and more detailed knowledge of molecular etiologies, cardiovascular diseases remain the leading cause of morbidity and mortality worldwide claiming over 17 million lives a year. Abnormalities in the synthesis, processing and catabolism of lipoprotein particles can result in severe ...
Sadik H, Kassim, James M, Wilson, Daniel J, Rader   +2 more
openaire   +2 more sources

B Cell Depletion Eliminates FVIII Memory B Cells and Enhances AAV8-coF8 Immune Tolerance Induction When Combined With Rapamycin

Frontiers in Immunology, 2020
Hemophilia A is an inherited coagulation disorder resulting in the loss of functional clotting factor VIII (FVIII). Presently, the most effective treatment is prophylactic protein replacement therapy. However, this requires frequent life-long intravenous
Moanaro Biswas, Brett Palaschak, Sandeep R. P. Kumar, Jyoti Rana, David M. Markusic   +4 more
doaj   +1 more source