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Quoted phrase not found in phrase index: "Gaucher disease due to saposin C deficiency"
Page 1
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Nair S, et al. Mol Genet Metab. 2020 Apr;129(4):286-291. doi: 10.1016/j.ymgme.2020.01.009. Epub 2020 Feb 5. Mol Genet Metab. 2020. PMID: 32044242 Free PMC article.
In Gaucher disease type 1 (GD1), genetic deficiency of lysosomal glucocerebrosidase results in the accumulation of glucosylceramide and glucosylsphingosine (GlcSph), that underlie chronic lipid-mediated metabolic inflammation. ...We identified GlcSph, a patho …
In Gaucher disease type 1 (GD1), genetic deficiency of lysosomal glucocerebrosidase results in the accumulation of gluc …
Saposin C protects glucocerebrosidase against alpha-synuclein inhibition.
Yap TL, Gruschus JM, Velayati A, Sidransky E, Lee JC. Yap TL, et al. Biochemistry. 2013 Oct 15;52(41):7161-3. doi: 10.1021/bi401191v. Epub 2013 Oct 1. Biochemistry. 2013. PMID: 24070323 Free PMC article.
GCase deficiency causes the lysosomal storage disorder Gaucher disease (GD). We show that saposin C (Sap C), a protein vital for GCase activity in vivo, protects GCase against alpha-syn inhibition. ...
GCase deficiency causes the lysosomal storage disorder Gaucher disease (GD). We show that saposin C (Sap …
Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).
Oya Y, Nakayasu H, Fujita N, Suzuki K, Suzuki K. Oya Y, et al. Acta Neuropathol. 1998 Jul;96(1):29-40. doi: 10.1007/s004010050857. Acta Neuropathol. 1998. PMID: 9678511
Sphingolipid activator proteins (SAPs) A to D are lysosomal factors required in degradation of sphingolipids with short hydrophilic head groups and are derived from a precursor protein. Sap-B deficiency causes a variant of metachromatic leukodystrophy and sap-C deficien …
Sphingolipid activator proteins (SAPs) A to D are lysosomal factors required in degradation of sphingolipids with short hydrophilic head gro …