- Tetraspanin CD9 modulates ADAM17-mediated shedding of LR11 in leukocytes
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Tsukamoto , Takeuchi M, Kawaguchi , Togasaki E, Yamazaki A, Sugita Y, Muto T, Sakai S, Takeda Y, Ohwada C, Sakaida E, Shimizu N, Nishii K, Jiang M, Yokote K, Bujo H, Nakaseko C
- KMID: 2155354
- Exp Mol Med.
- 2014 Apr;46(4):e89.
- doi: 10.1038/emm.2013.161
LR11, also known as SorLA or SORL1, is a type-I membrane protein from which a large extracellular part, soluble LR11 (sLR11), is released by proteolytic shedding on cleavage with a... -
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- A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
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Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW
- KMID: 2373595
- Ann Lab Med.
- 2016 Nov;36(6):561-572.
- doi: 10.3343/alm.2016.36.6.561
BACKGROUND: A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the... -
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- Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants
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Ko JS, Song JH, Park SS, Seo JK
- KMID: 1785752
- J Korean Med Sci.
- 2007 Dec;22(6):952-956.
- doi: 10.3346/jkms.2007.22.6.952
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here,... -
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