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10 results
  1. ELN-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584550
    ... reactive oxygen species ( TALDO1 [OMIM 606003 ]); Defects in phosphatidylserine synthesis ( PTDSS1 ) and mitochondrial fatty acid beta-oxidation ( ... Moore GE. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ...
  2. VPS13A Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1387
    ... activity is exposure to the cell surface of phosphatidylserine, a phospholipid normally confined to the cytosolic leaflet ... Suzuki J, Imanishi E, Nagata S. Exposure of phosphatidylserine by Xk-related protein family members during apoptosis. ...
  3. References - Dementia - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536508
    ... Szelies B, Herholz K. Long-term effects of phosphatidylserine, pyritinol and cognitive training in Alzheimer’s disease: ... 2018 Jun. (NICE Guideline, No. 97.) Appendix I, References. PDF version of this page (664K) PDF version ...
  4. Serine Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK592681
    ... cellular proliferation; Folate and single-carbon metabolism (methylation); Phosphatidylserine, sphingolipid, and ceramide synthesis; Synthesis of NMDA receptor ...
  5. ATP8B1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1297
    ... leaflets. Although early studies suggested that ATP8B1 translocates phosphatidylserine, more recent work suggests phosphatidylcholine is the preferred ...
  6. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... activity is stimulated by interaction with the lipid phosphatidylserine and the protein saposin C. Structural predictions (based ... posted live 23 March 2000 (gp) Original submission References Published Guidelines / Consensus Statements Belmatoug N, Di Rocco ...
  7. LTBP4-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK343782
    ... Moore GE. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  8. ATP6V0A2-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5200
    ... Moore GE. Gain-of-function mutations in the Phosphatidylserine Synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  9. Hormone Interventions - Interventions to Prevent Age-Related Cognitive Decline, Mild Cognitive Impairment, and Clinical ... 
    https://www.ncbi.nlm.nih.gov/books/NBK442413
    ... Sakai M, Ebina R, et al. Soybean-derived phosphatidylserine improves memory function of the elderly Japanese subjects ...
  10. Discussion - Diagnosis and Treatment of Clinical Alzheimer’s-Type Dementia: A Systematic Review - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK556543
    ... no eligible studies for Prevagen (apoaequorin), huperzine or phosphatidylserine. Our findings are mostly consistent with those reported ... excluded studies that used a biomarker as the reference gold standard rather than autopsy. This review also ...