Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Charles P. Venditti"'
Autor:
Clara Hjalmarsson, Charlotte Backelin, Anders Thoren, Niklas Bergh, Jennifer L. Sloan, Irini Manoli, Charles P. Venditti, Göran Dellgren
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101089- (2024)
IntroductionCobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all patients with cblC have various structural heart defects. Severe
Externí odkaz:
https://doaj.org/article/d5ab508217ae419d8f2226a5d20d2f21
Autor:
Randy J. Chandler, Giovanni Di Pasquale, Eun-Young Choi, David Chang, Stephanie N. Smith, Jennifer L. Sloan, Victoria Hoffmann, Lina Li, John A. Chiorini, Charles P. Venditti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 181-190 (2023)
Propionic acidemia (PA) is rare autosomal recessive metabolic disorder caused by defects in the mitochondrially localized enzyme propionyl-coenzyme A (CoA) carboxylase. Patients with PA can suffer from lethal metabolic decompensation and cardiomyopat
Externí odkaz:
https://doaj.org/article/c35059820a4742ec9fa25d51c2cda8e8
Autor:
Randy J. Chandler, Giovanni Di Pasquale, Jennifer L. Sloan, Samantha McCoy, Brandon T. Hubbard, Tina M. Kilts, Irini Manoli, John A. Chiorini, Charles P. Venditti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 61-72 (2022)
Methylmalonic acidemia (MMA) is a severe and potentially lethal autosomal recessive inborn error of metabolism most frequently caused by mutations in the methylmalonyl-CoA mutase (MMUT) gene. Proof-of-concept adeno-associated virus (AAV) gene therapy
Externí odkaz:
https://doaj.org/article/5caff188f5664f588fdfedae48923440
Autor:
Jessica L. Schneller, Ciaran M. Lee, Leah E. Venturoni, Randy J. Chandler, Ang Li, Sangho Myung, Thomas J. Cradick, Ayrea E. Hurley, William R. Lagor, Gang Bao, Charles P. Venditti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 619-632 (2021)
Methylmalonic acidemia (MMA) is a metabolic disorder most commonly caused by mutations in the methylmalonyl-CoA mutase (MMUT) gene. Although adeno-associated viral (AAV) gene therapy has been effective at correcting the disease phenotype in MMA mouse
Externí odkaz:
https://doaj.org/article/40477017c9594449b2c47c26ce788c14
Autor:
Petr O. Ilyinskii, Alicia M. Michaud, Gina L. Rizzo, Christopher J. Roy, Sheldon S. Leung, Stephanie L. Elkins, Teresa Capela, Aparajita Chowdhury, Lina Li, Randy J. Chandler, Irini Manoli, Eva Andres-Mateos, Lloyd P.M. Johnston, Luk H. Vandenberghe, Charles P. Venditti, Takashi Kei Kishimoto
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 279-292 (2021)
A major barrier to adeno-associated virus (AAV) gene therapy is the inability to re-dose patients due to formation of vector-induced neutralizing antibodies (Nabs). Tolerogenic nanoparticles encapsulating rapamycin (ImmTOR) provide long-term and spec
Externí odkaz:
https://doaj.org/article/6698961584084f2e8ca2b818f89110a5
Autor:
Francis J. May, PamelaSara E. Head, Leah E. Venturoni, Randy J. Chandler, Charles P. Venditti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 765-776 (2021)
Methylmalonic acidemia (MMA) is a severe metabolic disorder most commonly caused by a mutation in the methylmalonyl-CoA mutase (MMUT) gene. Patients with MMA experience multisystemic disease manifestations and remain at risk for neurological disease
Externí odkaz:
https://doaj.org/article/0cd62ae20d864f7898b0b2bb9a4558f6
Autor:
Rita Ferla, Marialuisa Alliegro, Margherita Dell’Anno, Edoardo Nusco, John M. Cullen, Stephanie N. Smith, Tyra G. Wolfsberg, Patricia O’Donnell, Ping Wang, Anh-Dao Nguyen, Randy J. Chandler, Zelin Chen, Shawn M. Burgess, Charles H. Vite, Mark E. Haskins, Charles P. Venditti, Alberto Auricchio
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 247-257 (2021)
Adeno-associated viral (AAV) vectors have emerged as the preferred platform for in vivo gene transfer because of their combined efficacy and safety. However, insertional mutagenesis with the subsequent development of hepatocellular carcinomas (HCCs)
Externí odkaz:
https://doaj.org/article/bc88977cd5ef427da6506d192e84e042
Autor:
Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 17-24 (2020)
Abstract Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a varia
Externí odkaz:
https://doaj.org/article/bbf156daba584caeab17e8c1a34fdca9
Autor:
Hye-Ri Kang, Monika Gjorgjieva, Stephanie N. Smith, Elizabeth D. Brooks, Zelin Chen, Shawn M. Burgess, Randy J. Chandler, Lauren R. Waskowicz, Kylie M. Grady, Songtao Li, Gilles Mithieux, Charles P. Venditti, Fabienne Rajas, Dwight D. Koeberl
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 383-391 (2019)
Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the glucose-6-phosphatase (G6Pase) catalytic subunit gene (G6PC). GSD Ia complications include hepatocellular adenomas (HCA) with a risk for hepatocellular carcinoma (HCC) formation.
Externí odkaz:
https://doaj.org/article/b62c7d87ff05429b9ac33973aa0abe54
Autor:
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background Expanded carrier screening (ECS) utilizes high‐throughput next‐generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficie
Externí odkaz:
https://doaj.org/article/17c6e9be84be4b0089b4bddb4ddd3fc2