Last Updated: 09/26/2026
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Found 89 publications
Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- mice.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: December 30, 2025
Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease.
Journal: Cell reports. Medicine
Published: December 22, 2025
Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease.
Journal: Molecular genetics and metabolism
Published: September 04, 2025
A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: April 14, 2025
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
Journal: Science translational medicine
Published: February 26, 2025
Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency.
Journal: The journal of allergy and clinical immunology. Global
Published: January 25, 2025
Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.
Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.
Journal: The Journal of experimental medicine
Published: October 26, 2024
Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model.
Journal: The FEBS journal
Published: August 14, 2024
Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy.
Journal: Annals of clinical and translational neurology
Published: March 01, 2024
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Journal: Annals of clinical and translational neurology
Published: May 12, 2023
Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
Journal: JCI insight
Published: January 10, 2023
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
Journal: Human molecular genetics
Published: December 27, 2022
Last Updated: 09/26/2026