Výsledky vyhledávání - "Andrea DeBarber"

Akademický článek

P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101039- (2024)

Externí odkaz: https://doaj.org/article/42357f5775fb45ad9cbb1f099d5a0e41

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Akademický článek

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

Autor: Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija

Publikováno v: JIMD Reports, Vol 59, Iss 1, Pp 3-9 (2021)

Abstract Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase. Patients with CTX can present wit

Externí odkaz: https://doaj.org/article/cf06f2aa2cf347b6ad211c10d9f51871

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Akademický článek

Apolipoprotein E–low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner

Autor: Lance A. Johnson, Reid H.J. Olsen, Louise S. Merkens, Andrea DeBarber, Robert D. Steiner, Patrick M. Sullivan, Nobuyo Maeda, Jacob Raber

Publikováno v: Neurobiology of Disease, Vol 64, Iss , Pp 150-162 (2014)

Human apolipoprotein E (apoE) exists in three isoforms: apoE2, apoE3 and apoE4. APOE ε4 is a major genetic risk factor for cardiovascular disease (CVD) and Alzheimer's disease (AD). ApoE mediates cholesterol metabolism by binding various receptors.

Externí odkaz: https://doaj.org/article/e423708891324e4fb137181d0ad41de6

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