Sialidase-1, is a mammalian lysosomal
neuraminidase enzyme which in humans is encoded by the NEU1gene.[5][6]
Function
The protein SIALIDASE-1 encoded by the NEU-1 gene encodes the lysosomal enzyme SIALIDASE-1, which cleaves terminal
sialic acid residues from substrates such as
glycoproteins and
glycolipids. In the
lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter also referred to as 'protective protein'). Mutations in this gene can lead to
sialidosis.[5]
Clinical significance
Mutations in NEU1 leads to
sialidosis, a rare
lysosomal storage disease.[7] Sialidase has also been shown to enhance recovery from spinal cord contusion injury when injected in rats.[8]
Okamura-Oho Y, Zhang S, Callahan JW (1994). "The biochemistry and clinical features of galactosialidosis". Biochim. Biophys. Acta. 1225 (3): 244–54.
doi:
10.1016/0925-4439(94)90002-7.
PMID8312369.
Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV (2004). "Molecular pathology of NEU1 gene in sialidosis". Hum. Mutat. 22 (5): 343–52.
doi:
10.1002/humu.10268.
PMID14517945.
S2CID22333886.
Verheijen FW, Palmeri S, Galjaard H (1987). "Purification and partial characterization of lysosomal neuraminidase from human placenta". Eur. J. Biochem. 162 (1): 63–7.
doi:
10.1111/j.1432-1033.1987.tb10542.x.
PMID3102233.
Verheijen FW, Palmeri S, Hoogeveen AT, Galjaard H (1985). "Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein". Eur. J. Biochem. 149 (2): 315–21.
doi:
10.1111/j.1432-1033.1985.tb08928.x.
PMID3922758.
Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M (2001). "Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene". Hum. Genet. 109 (4): 421–8.
doi:
10.1007/s004390100592.
PMID11702224.
S2CID24374154.
Sialidase-1, is a mammalian lysosomal
neuraminidase enzyme which in humans is encoded by the NEU1gene.[5][6]
Function
The protein SIALIDASE-1 encoded by the NEU-1 gene encodes the lysosomal enzyme SIALIDASE-1, which cleaves terminal
sialic acid residues from substrates such as
glycoproteins and
glycolipids. In the
lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter also referred to as 'protective protein'). Mutations in this gene can lead to
sialidosis.[5]
Clinical significance
Mutations in NEU1 leads to
sialidosis, a rare
lysosomal storage disease.[7] Sialidase has also been shown to enhance recovery from spinal cord contusion injury when injected in rats.[8]
Okamura-Oho Y, Zhang S, Callahan JW (1994). "The biochemistry and clinical features of galactosialidosis". Biochim. Biophys. Acta. 1225 (3): 244–54.
doi:
10.1016/0925-4439(94)90002-7.
PMID8312369.
Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV (2004). "Molecular pathology of NEU1 gene in sialidosis". Hum. Mutat. 22 (5): 343–52.
doi:
10.1002/humu.10268.
PMID14517945.
S2CID22333886.
Verheijen FW, Palmeri S, Galjaard H (1987). "Purification and partial characterization of lysosomal neuraminidase from human placenta". Eur. J. Biochem. 162 (1): 63–7.
doi:
10.1111/j.1432-1033.1987.tb10542.x.
PMID3102233.
Verheijen FW, Palmeri S, Hoogeveen AT, Galjaard H (1985). "Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein". Eur. J. Biochem. 149 (2): 315–21.
doi:
10.1111/j.1432-1033.1985.tb08928.x.
PMID3922758.
Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M (2001). "Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene". Hum. Genet. 109 (4): 421–8.
doi:
10.1007/s004390100592.
PMID11702224.
S2CID24374154.