AAV Vector Integration Sites in Mouse Hepatocellular Carcinoma

Anthony Donsante, Daniel G. Miller, Yi Li, +4

Science

Mps ViiHepatologyMouse Hepatocellular CarcinomaOncogenic AgentAav Vector +12

Neonatal Diagnosis and Treatment of Menkes Disease

Stephen G. Kaler, Courtney Holmes, David S. Goldstein, +6

New England Journal of Medicine

ATP7A Gene Addition to the Choroid Plexus Results in Long-term Rescue of the Lethal Copper Transport Defect in a Menkes Disease Mouse Model

Anthony Donsante, Ling Yi, Patricia M. Zerfas, +7

Molecular Therapy

Neurodegenerative DiseasesMolecular PhysiologyChoroid Plexus ResultsMenkes DiseaseGenetics +13

Central Nervous System-directed AAV2/5-Mediated Gene Therapy Synergizes with Bone Marrow Transplantation in the Murine Model of Globoid-cell Leukodystrophy

Dar‐Shong Lin, Anthony Donsante, Shannon L. Macauley, +3

Molecular Therapy

Neurodegenerative DiseasesGene TherapiesTransplantationMarrow TransplantationBone Marrow Failure +13

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease

Stephen G. Kaler, Clarissa J. Liew, Anthony Donsante, +3

Journal of Inherited Metabolic Disease

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

Ling Yi, Anthony Donsante, Marina Kennerson, +3

Human Molecular Genetics

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

Anthony Donsante, Sarah C. Godwin, Courtney Holmes, +3

Journal of Medical Genetics

Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain

Anthony Donsante, Paul Johnson, Laura A. Jansen, +1

American Journal of Medical Genetics Part A

Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus Epithelia

Marie Reine Haddad, Anthony Donsante, Patricia M. Zerfas, +1

Molecular Therapy — Nucleic Acids

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R

Jingrong Tang, Anthony Donsante, Vishal Desai, +2

Molecular Genetics and Metabolism

Mendelian DisorderGeneticsCopper-responsive Atp7a MutationMenkes Disease PatientsPathology +3