Sandhoff disease is a severe inherited neurodegenerative disorder resulting from deficiency of the β-subunit of hexosaminidases A and B, lysosomal hydrolases involved in the degradation of GM2 ...

Summary: Serum samples from two unrelated, clinically normal individuals lacked detectable hexosaminidase A by heat inactivation and electrophoretic analysis. In contrast, 15 and 17% of the ...

Tay-Sachs Disease is a progressive and fatal genetic condition that involves a complete deficiency of the hexosaminidase-A (HEXA) enzyme. This enzyme is needed in healthy individuals for the ...

JR-479 is an investigational BBB-penetrating β-Hexosaminidase A (rDNA origin) enzyme replacement therapy (ERT) that JCR is developing for the treatment of people with GM2 gangliosidoses.

First up, Axovant has reported data from two patient treated with the lowest planned dose of its AXO-Lenti-PD gene therapy for Parkinson’s, with the headline news an average 25-point (42% ...

Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a patient-centric, pivotal-stage gene therapy company focused on developing and commercializing AAV-based ...

This means that a child must inherit two affected hexosaminidase-A genes — one from each parent — in order to develop the disease. Tay-Sachs is observed in equal numbers regardless of sex.

Jahnová H, et al. (2019). Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease.

A child is born with Tay-Sachs when he or she inherits two damaged copies of the HEXA gene on chromosome 15 (one from each parent), which results in a deficiency of the Hexosaminidase A enzyme and ...

β-hexosaminidase A activity Another approach that has been studied for the treatment of Tay-Sachs disease has been to increase the activity of the HEXA enzyme so that the deficiency that ...