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Published Erratum
. 2017 Feb 14;88(7):720.
doi: 10.1212/WNL.0000000000003650.

Neurologic involvement in patients with atypical Chediak-Higashi disease

No authors listed
Published Erratum

Neurologic involvement in patients with atypical Chediak-Higashi disease

No authors listed. Neurology. .
No abstract available

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Figures

Figure 2
Figure 2. LYST protein expression and lysosome size and distribution in Chediak-Higashi disease (CHD) fibroblasts
(A) High-molecular-weight immunoblots of protein extracts from normal control fibroblasts (lane 7), classic LYST-negative control fibroblasts CHD-16 (lane 3) and CHD-4 (lane 6), and 4 different CHD patients' fibroblast cultures; α-tubulin was used as a loading control. Fibroblasts from patients with atypical CHD (CHD-18, lane 1; CHD-17, lane 2; CHD-6, lane 4; and CHD-5, lane 5) have reduced levels of LYST expression. CHD-5 cells showed no LYST protein, despite the presence of a low level of residual RNA (∼20% of control). Please refer to our previous publication [Manoli I, Golas G, Westbroek W, et al. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. Am J Med Genet A 2010;152A:1474–1483] for methods and antibody information. (B) Fibroblasts are stained with LAMP-1 antibodies (green) to visualize lysosomal membranes and with an F-actin marker (phalloidin, red) to visualize the cell boundaries. Control fibroblasts show a typical distribution of lysosomes throughout the cell. Classic CHD-4 fibroblasts show enlarged lysosomes restricted to the perinuclear area. CHD-5 fibroblasts show enlarged lysosomes in the perinuclear area and normal-sized lysosomes in the periphery. CHD-6 fibroblasts show slightly enlarged lysosomes. CHD-17 and CHD-18 fibroblasts have slightly enlarged lysosomes with a typical distribution of lysosomes throughout the cell. Marked white dotted squares in left panels are zoomed out in right panels. Scale bar 20 μm.
See this image and copyright information in PMC

Erratum for

References

    1. Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology 2016;86:1320–1328. - PMC - PubMed
    1. Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology 2017;88:721. Partial Retraction. - PMC - PubMed
    1. Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology Epub ahead of print 2016 September 28. doi: 10.1212/WNL.0000000000003324. Expression of Concern. - DOI - PMC - PubMed
    1. Introne WJ, Westbroek W, Groden CA, et al. Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology 2017;88:e57–e65. Corrected and Republished Article. - PMC - PubMed

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