Results 11 to 20 of about 172,174 (293)

Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Lysosomal acid lipase deficiency (LAL-D) presents as one of two rare autosomal recessive diseases: Wolman disease (WD), a severe disorder presenting in infancy characterized by absent or very low LAL activity, and cholesteryl ester storage disease (CESD),
Patricia Lam, Anna Ashbrook, Deborah A. Zygmunt, Cong Yan, Hong Du, Paul T. Martin   +5 more
doaj   +2 more sources

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

Frontiers in Pediatrics, 2023
BackgroundSpinal muscular atrophy (SMA) is a genetic neurodegenerative disease leading to muscular weakness and premature death. Three therapeutic options are currently available including gene replacement therapy (GRT), which is potentially cardiotoxic.
Jessika Johannsen, Deike Weiss, Joenna Driemeyer, Jakob Olfe, Fridrike Stute, Ferdinand Müller, Marion Schütt, Regina Trollmann, Heike Kölbel, Ulrike Schara-Schmidt, Janbernd Kirschner, Astrid Pechmann, Astrid Blaschek, Veronka Horber, Jonas Denecke   +14 more
doaj   +1 more source

AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C. [PDF]

Mol Ther, 2023
Type 4C Charcot-Marie-Tooth (CMT4C) demyelinating neuropathy is caused by autosomal recessive SH3TC2 gene mutations. SH3TC2 is highly expressed in myelinating Schwann cells. CMT4C is a childhood-onset progressive disease without effective treatment. Here,
Georgiou E, Kagiava A, Sargiannidou I, Schiza N, Stavrou M, Richter J, Tryfonos C, Heslegrave A, Zetterberg H, Christodoulou C, Kleopa KA.   +10 more
europepmc   +2 more sources

Gene replacement therapy in a schwannoma mouse model of neurofibromatosis type 2. [PDF]

Mol Ther Methods Clin Dev, 2022
Loss of function of the neurofibromatosis type 2 (NF2) tumor suppressor gene leads to the formation of schwannomas, meningiomas, and ependymomas, comprising ∼50% of all sporadic cases of primary nervous system tumors.
Prabhakar S, Beauchamp RL, Cheah PS, Yoshinaga A, Haidar EA, Lule S, Mani G, Maalouf K, Stemmer-Rachamimov A, Jung DH, Welling DB, Giovannini M, Plotkin SR, Maguire CA, Ramesh V, Breakefield XO.   +15 more
europepmc   +2 more sources

Gene therapy – Principles and applications

Global Journal of Transfusion Medicine, 2022
The concept of gene therapy dates back to the 1960s and 1970s and it is yet to come of age, as there is a paucity of reliable, long-term data on the safety and efficacy of this novel therapy.
Sangeeta Pathak
doaj   +1 more source

Initial Steps for the Development of a Phage-Mediated Gene Replacement Therapy Using CRISPR-Cas9 Technology. [PDF]

J Clin Med, 2020
Yang Zhou J, Suwan K, Hajitou A.
europepmc   +2 more sources

AAV-based gene replacement: The promise of gene therapy for deafness

Molecular Therapy: Nucleic Acids
Jieyu Qi, Liyan Zhang, Renjie Chai
doaj   +2 more sources

Feasibility of using NF1-GRD and AAV for gene replacement therapy in NF1-associated tumors. [PDF]

Gene Ther, 2019
Neurofibromatosis type 1, including the highly aggressive malignant peripheral nerve sheath tumors (MPNSTs), is featured by the loss of functional neurofibromin 1 (NF1) protein resulting from genetic alterations.
Bai RY, Esposito D, Tam AJ, McCormick F, Riggins GJ, Wade Clapp D, Staedtke V.   +6 more
europepmc   +2 more sources

Interim Analysis of Treatment Outcomes of Young Children with 5q Spinal Muscular Atrophy on Gene Replacement Therapy with Onasemnogene Abeparvovec. Clinical Observations

Вопросы современной педиатрии, 2023
Background. Onasemnogene abeparvovec is the first gene replacement therapy medication based on the adeno-associated viral vector (AAV9). One injection to a patient with 5q spinal muscular atrophy (SMA) leads to replacement of the missing or defective ...
Anna A. Kokorina, Sergei S. Nikitin
doaj   +1 more source

NF-κB Decoy Oligodeoxynucleotide-Coated Balloon Catheter for Arteriovenous Fistula in Hemodialysis

Kidney International Reports, 2019
Introduction: New treatments to inhibit neointimal formation after percutaneous transluminal angioplasty (PTA) are needed for patients undergoing chronic hemodialysis (HD).
Mizuya Fukasawa, Mitsuaki Isobe, Shinsuke Nanto, Masato Nakamura, Hiroaki Haruguchi, Takashi Miyake, Ryuichi Morishita   +6 more
doaj   +1 more source