Background Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder
characterized by progressive destruction of nerve cells in the brain and spinal cord. It is …

Abstract Tay–Sachs disease (TSD)(OMIM) is a neurodegenerative lysosomal storage
disorder caused due to mutations in the HEXA gene. To date, nearly 190 mutations have …

Tay-Sachs disease or GM2 gangliosidosis, is caused by a deficiency of beta-
hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside …

GM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in
the Hexosaminidase A (HEXA) gene, which leads to a deficiency in the activity of the β …

Tay Sachs es una enfermedad autosómica recesiva que pertenece al grupo de las GM2
gangliosidosis y afecta gravemente al SNC. Las terapias génicas que emplean Adeno …

Tay-Sachs disease (TSD) is a rare genetic disorder arising from mutations in the gene
encoding the α-subunit of β-hexosaminidase A (HexA). Hexosaminidase A is a member of a …

Tay-Sachs disease is a neurodegenerative disorder commonly caused by HEXA c.
1278insTATC, a 4-base pair duplication mutation disrupting the mRNA reading frame in …

Background Genetic polymorphisms in the HEXA gene are associated with a
neurodegenerative disorder called Tay-Sachs disease (TSD)(GM2 gangliosidosis type 1) …

Tay-Sachs diseases are group of rare autosomal recessive lysosomal disorders, GM2-
gangliozidoses. They are progressive neurodegenerative diseases, caused by a mutation in …

The antitumor protein Bax is susceptible to microsatellite instability (MSI) mutations that alter
its open reading frame by changing Baxs' microsatellite of eight guanines (G8) to seven …