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pro vyhledávání: '"Tugce Sengul"'
Publikováno v:
PLoS ONE, Vol 18, Iss 3, p e0280650 (2023)
Tay-Sachs disease is a lethal lysosomal storage disorder caused by mutations in the HexA gene encoding the α subunit of the lysosomal β-hexosaminidase enzyme (HEXA). Abnormal GM2 ganglioside accumulation causes progressive deterioration in the cent
Externí odkaz:
https://doaj.org/article/9a10d868c6ca470b903255f1c47edf29
Autor:
Melike Can, Tugce Sengül, Secil Akyildiz Demir, Orhan K. İnci, Hande Basırlı, Volkan Seyrantepe
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Introduction: Tay–Sachs disease is an autosomal recessively inherited lysosomal storage disease that results from loss-of-function mutations in the HEXA gene coding β-hexosaminidase A. HEXA gene deficiency affects the central nervous system owing
Externí odkaz:
https://doaj.org/article/9b1293ecff614b7da31e20e3327be828