- Effects of Val34Leu and Val35Leu polymorphism on the enzyme activity of the coagulation factor XIII-A
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Lee IH, Chung SI, Lee SY
- KMID: 755212
- Exp Mol Med.
- 2002 Nov;34(5):385-390.
Change in fibrin stabilizing activity of factor XIII A subunit (FXIII-A) caused by a specific mutation, Val34Leu, is recently implicated to incidences of pathophysiology of thrombosis. In an effort to... -
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- Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and alpha-synuclein aggregation
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Bae EJ, Yang NY, Lee C, Lee HJ, Kim S, Sardi SP, Lee SJ
- KMID: 2155418
- Exp Mol Med.
- 2015 Mar;47(3):e153.
- doi: 10.1038/emm.2014.128
Lysosomal dysfunction is a common pathological feature of neurodegenerative diseases. GTP-binding protein type A1 (GBA1) encodes beta-glucocerebrosidase 1 (GCase 1), a lysosomal hydrolase. Homozygous mutations in GBA1 cause Gaucher disease,... -
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