Research
- Maple Syrup Urine Disease (MSUD)
- Sialidosis
- Ehlers-Danlos Syndromes (EDS)
- Multisystemic smooth muscle dysfunction syndrome (MSMDS)
- Dravet Syndrome
- Huntington's Disease
- GM1 Gangliosidosis
- GM3 Synthase Deficiency
- Spastic Paraplegia Type 4 (SPG4)
- UBA5 Gene Mutation
- Neurofibromatosis type 1 (NF1)
- Tay-Sachs Disease
- Large Animal Models
- Clinical Translation
- Human Genetic Disease Modeling Core
Research
- Maple Syrup Urine Disease (MSUD)
- Sialidosis
- Ehlers-Danlos Syndromes (EDS)
- Multisystemic smooth muscle dysfunction syndrome (MSMDS)
- Dravet Syndrome
- Huntington's Disease
- GM1 Gangliosidosis
- GM3 Synthase Deficiency
- Spastic Paraplegia Type 4 (SPG4)
- UBA5 Gene Mutation
- Neurofibromatosis type 1 (NF1)
- Tay-Sachs Disease
- Large Animal Models
- Clinical Translation
- Human Genetic Disease Modeling Core
UBA5 Gene Mutation
To contact us about UBA5, please email Dr. Toloo Taghian at toloo.taghian@umassmed.edu