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Son, Daryeon,Quan, Zhejiu,Kang, Phil Jun,Park, Gyuman,Kang, Hoon-Chul,You, Seungkwon Elsevier 2017 Stem cell research Vol.25 No.-
<P>X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with adrenomyeloneuropathy (AMN) by Sendai virus containing OCT4, SOX2, KLF4 and c-MYC. Established iPSC lines expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained ABCD1 mutation. (c) 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license.</P>
Induced pluripotent stem cells for modeling of pediatric neurological disorders.
Jang, Jiho,Quan, Zhejiu,Yum, Yunjin J,Song, Hyo Sook,Paek, Seonyeol,Kang, Hoon-Chul Wiley 2014 BIOTECHNOLOGY JOURNAL Vol.9 No.7
<P>The pathophysiological mechanisms underlying childhood neurological disorders have remained obscure due to a lack of suitable disease models reflecting human pathogenesis. Using induced pluripotent stem cell (iPSC) technology, various neurological disorders can now be extensively modeled. Specifically, iPSC technology has aided the study and treatment of early-onset pediatric neurodegenerative diseases such as Rett syndrome, Down syndrome, Angelman syndrome. Prader-Willi syndrome, Friedreich's ataxia, spinal muscular atrophy (SMA), fragile X syndrome, X-linked adrenoleukodystrophy (ALD), and SCN1A gene-related epilepsies. In this paper, we provide an overview of various gene delivery systems for generating iPSCs, the current state of modeling early-onset neurological disorders and the ultimate application of these in vitro models in cell therapy through the correction of disease-specific mutations.</P>
Kim, Hyun Woo,Quan, Zhejiu,Kim, Young-Beom,Cheong, Eunji,Kim, Heung Dong,Cho, Minjung,Jang, Jiho,Yoo, Young Rang,Lee, Joon Soo,Kim, Ji Hun,Kim, Yang In,Kim, Dae-Sung,Kang, Hoon-Chul Elsevier 2018 Brain and Development Vol.40 No.4
<P><B>Abstract</B></P> <P><B>Background</B></P> <P>We investigated how two distinct mutations in <I>SCN1A</I> differentially affect electrophysiological properties of the patient-derived GABAergic neurons and clinical severities in two Dravet syndrome (DS) patients.</P> <P><B>Materials and Methods</B></P> <P>We established induced pluripotent stem cells from two DS patients with different mutations in <I>SCN1A</I> and subsequently differentiated them into forebrain GABAergic neurons. Functionality of differentiated GABAergic neurons was examined by electrophysiological recordings.</P> <P><B>Results</B></P> <P>DS-1 patient had a missense mutation, c.4261G > T [GenBank: NM_006920.4] and DS-2 patient had a nonsense frameshift mutation, c.3576_3580 del TCAAA [GenBank: NM_006920.4]. Clinically, contrary to our expectations, DS-1 patient had more severe symptoms including frequency of seizure episodes and the extent of intellectual ability penetration than DS-2 patient. Electrophysiologic recordings showed significantly lower sodium current density and reduced action potential frequency at strong current injection (>60 pA) in GABAergic neurons derived from both. Intriguingly, unique genetic alterations of <I>SCN1A</I> differentially impacted electrophysiological impairment of the neurons, and the impairment’s extent corresponded with the symptomatic severity of the donor from which the iPSCs were derived.</P> <P><B>Conclusion</B></P> <P>Our results suggest the possibility that patient-derived iPSCs may provide a reliable <I>in vitro</I> system that reflects clinical severities in individuals with DS.</P>
강준원,강훈철,이상미,구교연,이영목,남효석,Zhejiu Quan 연세대학교의과대학 2014 Yonsei medical journal Vol.55 No.4
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression,but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonanceimaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellardegeneration symptoms.
Jin, Meihua,Moon, Tae Chul,Quan, Zhejiu,Lee, Eunkyung,Kim, Yun Kyung,Yang, Ju Hae,Suh, Seok-Jong,Jeong, Tae Cheon,Lee, Seung Ho,Kim, Cheorl-Ho,Chang, Hyeun Wook Pharmaceutical Society of Japan 2008 BIOLOGICAL & PHARMACEUTICAL BULLETIN Vol.31 No.7
<P>Deoxypodophyllotoxin (DPT), a naturally occurring flavolignan with anti-inflammatory activity, was isolated from <I>Anthriscus sylvestris</I> <SMALL>HOFFM</SMALL>., and we examined its effects on the expression of inducible nitric oxide synthase (iNOS) in lipopolysaccharide (LPS)-stimulated, murine macrophage-like RAW264.7 cells. Western blot analysis performed with specific anti-iNOS antibodies showed that a decrease in nitric oxide (NO) was accompanied by a decrease in the iNOS protein level. To clarify the mechanistic basis for DPT's ability to inhibit iNOS induction, we examined the effect of DPT on nuclear factor (NF)-κB transcriptional activity and DNA binding activity. DPT potently suppressed both reporter gene activity and DNA binding activity. These findings suggest that DPT in RAW264.7 cells abolished LPS-induced iNOS expression by inhibiting the transcription factor, NF-κB.</P>