Results 21 to 30 of about 2,693,578 (146)

ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia

Molecular Therapy: Methods & Clinical Development, 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 specific
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   +15 more
doaj   +1 more source

Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9

Molecular Therapy: Methods & Clinical Development, 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.
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   +8 more
doaj   +1 more source

MMUT protein expression in mice treated with 1×10¹⁴ vg/kg mLB-001 at PND 1.

, 2022
(A) Plasma ALB-2A levels remained stable in all heterozygous (Mmut+/-) animals while showing an exponential increase over time in all MMA (Mmut-/-) mice. (B) Immunoblot analysis of MMUT protein in the liver tissues.
Noel Walsh (13833794), Lauren Drouin (13833800), Kyle Chiang (13833803), Chih-Wei Ko (2022751), Shreya Amarwani (13833797), Jenisha Vora (13833785), Carmen Wu (13833791), Nikhil Ramesh (13833782), Elizabeth McCarthy (819837), Xiaohan Zhang (2291644), Jing Liao (193197), B. Nelson Chau (13833806), Susana Gordo (13833779), Dylan Frank (13833788), Matthias Hebben (3271188), Amy Bastille (13833776), Shengwen Zhang (41536), Qiang Xiong (182400)   +17 more
core   +1 more source

Illustration of GeneRide technology and PCR designs.

, 2022
A GeneRide vector genome consists of species-specific homology guide sequences flanking the stop codon of the endogenous ALB gene, a peptide 2A and a coding sequence of methylmalonyl coenzyme A mutase.
Noel Walsh (13833794), Lauren Drouin (13833800), Kyle Chiang (13833803), Chih-Wei Ko (2022751), Shreya Amarwani (13833797), Jenisha Vora (13833785), Carmen Wu (13833791), Nikhil Ramesh (13833782), Elizabeth McCarthy (819837), Xiaohan Zhang (2291644), Jing Liao (193197), B. Nelson Chau (13833806), Susana Gordo (13833779), Dylan Frank (13833788), Matthias Hebben (3271188), Amy Bastille (13833776), Shengwen Zhang (41536), Qiang Xiong (182400)   +17 more
core   +1 more source

Immunoblot analysis of MMUT in the liver mitochondrial fraction of mice treated with mLB-001 as neonates or adults.

, 2022
Animals were injected with vehicle or mLB-001 on PND 1 (A, Neonates) or at 8 weeks of age (B, Adults). Terminal liver tissues were collected at 6 months post-dosing and mitochondrial fractions were isolated.
Noel Walsh (13833794), Lauren Drouin (13833800), Kyle Chiang (13833803), Chih-Wei Ko (2022751), Shreya Amarwani (13833797), Jenisha Vora (13833785), Carmen Wu (13833791), Nikhil Ramesh (13833782), Elizabeth McCarthy (819837), Xiaohan Zhang (2291644), Jing Liao (193197), B. Nelson Chau (13833806), Susana Gordo (13833779), Dylan Frank (13833788), Matthias Hebben (3271188), Amy Bastille (13833776), Shengwen Zhang (41536), Qiang Xiong (182400)   +17 more
core   +1 more source

Transcriptomic Profiling of Diabetic Porcine Wound Healing Model Identifies Key Metabolic, Inflammatory, and Oxidative Stress Pathways. [PDF]

Wound Repair Regen
ABSTRACT Diabetic foot ulcers remain a major clinical challenge as diabetes prevalence rises, emphasising the need for improved therapeutics and relevant preclinical models. Common rodent wound‐healing models poorly recapitulate human skin anatomy and repair.
McCune JT, Bezold MG, Davidson JM, Serezani CH, Cook RS, Duvall CL.   +5 more
europepmc   +2 more sources

Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase [PDF]

, 2020
Cobalamin, commonly known as vitamin B12, is an essential micronutrient for humans because of its role as an enzyme cofactor. Cobalamin is one of over a dozen structurally related compounds - cobamides - that are found in certain foods and are produced ...
Plessl, Tanja, Mackinnon, Sabrina, Froese, D Sean; https://orcid.org/, Baumgartner, Matthias R; https://orcid.org/, Yue, Wyatt W, Taga, Michiko E; https://orcid.org/, Sokolovskaya, Olga M; https://orcid.org/, Bailey, Henry, Sokolovskaya, Olga M, Bailey H, Froese, D Sean, Mackinnon S, Yue WW, Baumgartner MR, Taga, Michiko E, Baumgartner, Matthias R, Sokolovskaya OM, Plessl T, Froese DS, Taga ME   +19 more
core   +3 more sources

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Scientific Reports, 2021
Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai   +11 more
doaj   +1 more source

Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for B12 delivery and repair

, 2023
G-proteins function as molecular switches to power cofactor translocation and confer fidelity in metal trafficking. The G-protein, MMAA, together with MMAB, an adenosyltransferase, orchestrate cofactor delivery and repair of B12-dependent human ...
Natalie Heitman, Markus Ruetz, Harsha Gouda, Romila Mascarenhas, Ruma Banerjee, Madeline Yaw   +5 more
core   +1 more source

Immunohistochemistry analysis of MMUT in the liver of an MMA mouse treated with mLB-001 at 8 weeks of age.

, 2022
Animals were injected with 5×1013 vg/kg mLB-001 at 8 weeks of age. Terminal liver tissues were collected at 6 months post-dosing and subjected to immunohistochemistry analysis for MMUT. Images of a representative animal is shown. The scale bars represent
Noel Walsh (13833794), Lauren Drouin (13833800), Kyle Chiang (13833803), Chih-Wei Ko (2022751), Shreya Amarwani (13833797), Jenisha Vora (13833785), Carmen Wu (13833791), Nikhil Ramesh (13833782), Elizabeth McCarthy (819837), Xiaohan Zhang (2291644), Jing Liao (193197), B. Nelson Chau (13833806), Susana Gordo (13833779), Dylan Frank (13833788), Matthias Hebben (3271188), Amy Bastille (13833776), Shengwen Zhang (41536), Qiang Xiong (182400)   +17 more
core   +1 more source