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APOE5 VARIANT

MedGen UID:
1381652
•Concept ID:
C4479660
•
Finding
OMIM®: 107741

Recent clinical studies

Diagnosis

Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys).
Sasaki M, Yasuno T, Ito K, Matsunaga A, Hisano S, Abe Y, Miyake K, Masutani K, Nakashima H, Saito T
CEN Case Rep 2018 Nov;7(2):225-228. Epub 2018 May 8 doi: 10.1007/s13730-018-0331-4. PMID: 29740794Free PMC Article

Therapy

Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys).
Sasaki M, Yasuno T, Ito K, Matsunaga A, Hisano S, Abe Y, Miyake K, Masutani K, Nakashima H, Saito T
CEN Case Rep 2018 Nov;7(2):225-228. Epub 2018 May 8 doi: 10.1007/s13730-018-0331-4. PMID: 29740794Free PMC Article

Clinical prediction guides

Apolipoprotein E5 (Glu212-->Lys): increased binding to cell surface proteoglycans but decreased uptake and lysosomal degradation in cultured fibroblasts.
Feussner G, Scharnagl H, Scherbaum C, Acar J, Dobmeyer J, Lohrmann J, Wieland H, März W
J Lipid Res 1996 Aug;37(8):1632-45. PMID: 8864947

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