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Image Search Results
Journal: Human Molecular Genetics
Article Title: SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
doi: 10.1093/hmg/ddy101
Figure Lengend Snippet: Accumulation of cholesterol in SCAR20 patients. (A, B) Filipin staining of dermal fibroblasts derived from (A) control and (B) SCAR20 patients show increased perinuclear intensity is indicated by arrowheads (Scale bar = 50 µm). (C) Filipin stained dermal fibroblasts derived from a control and SCAR20 patient (p.Q866*) show increased perinuclear distributions of filipin intensity following 24 h of U18666A treatment (Scale bar = 200 µm). (D) Quantification of filipin intensity in the perinuclear region of each cell. Perinuclear accumulation of cholesterol in SNX14 mutant fibroblasts is exacerbated by U18666A treatment. Each dot represents a single cell, n ≥ 143, bars = mean, error bars = SEM, **P ≤ 0.01, one-way ANOVA.
Article Snippet:
Techniques: Staining, Derivative Assay, Control, Mutagenesis
Journal: Human Molecular Genetics
Article Title: SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
doi: 10.1093/hmg/ddy101
Figure Lengend Snippet: Perinuclear accumulation of cholesterol in SNX14 mutant cells. SNX14 protein in cell lysates from HEK293 clones generated from single cell sorting following CRISPR-Cas9 mediated targeting of the SNX14 gene. (A, B) Clones display either full length SNX14 protein (SNX WT 1–6), no SNX14 protein (SNX14 KO 1–7) or truncated SNX14 protein (SNX14 DEL 1–5). Cells were cultured (C) with or (D) without 23.5 µm U18666A for 24 h. SNX14 mutant cells showed greater accumulation of cholesterol with U18666A treatment. (E) U18666A increased perinuclear distribution of cholesterol. (F) SNX14 mutant clones treated with U18666A displayed an increased perinuclear distribution of cholesterol compared to SNX14WT clones. (C, D) Scale bar = 50 µm. (E, F) The mean radial distribution of filipin signal intensity plotted from nuclear to peripheral regions, N = 6 (SNX14WT clones), N = 5 (SNX14DEL clones), N = 7 (SNX14KO clones), dots = mean, error bars = SD, **P ≤ 0.01, *P ≤ 0.05, n.s. P ≥ 0.05, Student’s t-test.
Article Snippet:
Techniques: Mutagenesis, Clone Assay, Generated, FACS, CRISPR, Cell Culture