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Article

Autophagic defects observed in fibroblasts from a patient with β-propeller protein-associated neurodegeneration.

American journal of medical genetics. Part A - 1 Dec 2021

Lee Jae-Hyeok, Nam Sang Ook, Kim Eun Kyoung, Shin Jin-Hong, Oh Seung Hwan, Ryu Dongryeol, Lee Hye Eun, Mun Ji Young

Abstract excerpt

Beta-propeller protein-associated neurodegeneration (BPAN) is associated with mutations in the autophagy gene WDR45. The aim of this study was to demonstrate autophagic defects in a patient with BPAN. We assayed autophagic markers using western blot analysis and immunocytochemistry and applied transmission electron microscopy (TEM) to visualize the autophagic structures in fibroblasts from a 7-year-old Korean...

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PMID: 34325486
DOI: 10.1002/ajmg.a.62442

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