• Journal of Genetic Medicine
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• 제11권2호
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• pp.69-73
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• 2014

Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. Results: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was $45{\pm}8.5$ for SCA1, $42{\pm}3.1$ for SCA2, $72{\pm}5.4$ for SCA3, $23{\pm}1.5$ for SCA6, and $50{\pm}11.4$ for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. Conclusion: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.38-43
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• 2015

Purpose: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. Materials and Methods: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. Results: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, $24{\pm}4copies$) for SCA8, 7-18 copies (average, $13{\pm}3copies$) for SCA12, and 26-43 copies (average, $35{\pm}2copies$) for SCA17. Conclusion: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.

• Annals of Clinical Neurophysiology
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• 제3권2호
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• pp.151-155
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• 2001

SCA 1 is an autosomal dominant disorder. The phenotypic manifestations of SCA 1 are not specific, and thus, the diagnosis of SCA 1 rests on molecular genetic testing. The number of CAG repeats ranges from 6-44 in normal alleles and from 39-81 repeats in disease-causing alleles(chromosomal locus 6p22-23). The main clinical features of SCA 1 are ataxia, dysarthria, ophthalmoparesis, extrapyramidal signs without retinal degeneration. A 24-year-old woman with suspected family history presented with progressive cerebellar ataxia, dysarthria, ptosis, titubation and general weakness. Brain MRI revealed a moderate cerebellar atrophy. A genomic polymerase chain reaction(PCR) analysis showed 66 repeats at the SCA 1 locus.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.22-37
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• 2007

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.

• 한국정보과학회논문지:컴퓨팅의 실제 및 레터
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• 제9권3호
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• pp.241-253
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• 2003

SDR(Software Defined Radio, 소프트웨어 기반 무선 통신) 포럼에서 표준으로 인정된 SCA(Software Communication Architecture)는 내장형 시스템 소프트웨어의 설계 패턴을 잘 활용한 프레임워크를 제공하고 있다. 그러나 SCA는 (1) 컴포넌트 인터페이스를 표현하고 이를 구현하는 방법에 대하여 정의하는 컴포넌트 모델과 (2) 배치 단위에 무엇을 어떻게 패키지할 지에 대하여 정의하는 패키지 모델, 그리고 (3) 배치 환경과 절차를 정의하는 배치 모델에 대한 명시적인 표준을 제시하지 않고 있어 컴포넌트 프레임워크로서 부족한 문제점이 있다 본 논문에서는 SCA를 기반으로 하여 SDR을 위한 컴포넌트 프레임워크를 제시한다. 구체적으로 (1) 객체 관리 기능을 지원하는 특성화된 CORBA 객체로서의 컴포넌트를 정의하는 컴포넌트 모델, (2) SCA의 XML 디스크립터를 활용하는 패키지 모델, (3) SCA 기반의 배치 환경, 배치 상태를 복구하는 시동 절차, 느린 응용 인스턴스화와 동적 컴포넌트 교체를 지원하는 배치 절차를 정의하는 배치 모델을 제시한다.

• Molecules and Cells
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• 제27권6호
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• pp.621-627
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• 2009

Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration. SCA1 is associated with an elongated polyglutamine tract in ataxin-1, the SCA1 gene product. As summarized in this review, recent studies have clarified the molecular mechanisms of SCA1 pathogenesis and provided direction for future therapeutic approaches. The nucleus is the subcellular site where misfolded mutant ataxin-1 acts to cause SCA1 disease in the cerebellum. The role of these nuclear aggregates is the subject of intensive study. Additional proteins have been identified, whose conformational alterations occurring through interactions with the polyglutamine tract itself or non-polyglutamine regions in ataxin-1 are the cause of SCA-1 cytotoxicity. Therapeutic hope comes from the observations concerning the reduction of nuclear aggregation and alleviation of the pathogenic phenotype by the application of potent inhibitors and RNA interference.

• 생명과학회지
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• 제21권5호
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• pp.671-677
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• 2011

대두의 세포막에 존재하는 SCA1은 칼모듈린에 의해서 조절된다는 내용을 이전에 보고하였다. 본 연구에서는 대두의 $Ca^{2+}$-ATPase인 SCA2에 관한 특성을 연구하였다. SCA2는 SCA1과 아미노산 서열 비교에서 78%로 높은 유사성을 나타내며, 10개의 transmembrane 도메인이 존재하는 것을 확인하였다. CaM overaly assay로부터, SCA2는 칼슘에 의존적인 방법으로 칼모듈린과 결합한다는 것을 보여주었으며, Southern blot 분석 결과, 대두의 genome에는 두 종류의 $Ca^{2+}$-ATPase가 존재하는 것으로 보인다. SCA2의 $Ca^{2+}$-ATPase 효소활성을 확인하고자 yeast mutant를 이용하여 complementation assay를 수행해 보면, SCA2가 $Ca^{2+}$-ATPase의 효소활성을 가지는 것을 보여 주었다. 이러한 결과들은 SCA2가 식물에 존재하는 type IIB $Ca^{2+}$-ATPase들과 구조적으로 높은 유사성을 가진다는 것을 시사한다.

• 생명과학회지
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• 제16권1호
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• pp.76-81
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• 2006

방선균에서 DNA 전사 억제인자로써 작용하여 이차대사산물의 생산뿐만 아니라 형태분화를 조절하는 $\gamma-butyrolactone$ autoregulator receptor를 암호화하는 유전자(scaR)를 clavulanic arid 생산 균주, Streptomyces clavuligerus로부터 클로닝하고 in vitro에서 ScaR의 특징을 연구하여 보고한 바 있다. 따라서 본 연구에서는 ScaR의 in vivo 기능을 분석하기위해 상동재조합방법을 이용하여 scaR이 제거된 변이주를 제작하고 야생균주와 표현형을 비교해 보았다. 그 결과, Streptomyces clavuligerus의 형태분화에서는 큰 차이를 나타내지 않았지만 clavulanic acid의 생산에 있어서는 scaR 파괴 변이주가 야생균주에 비해 생산이 증가된 경향을 보였다. 그러므로 ScaR이 S. clavuligerus의 형태분화에는 영향을 미치지 않지만 clavulanic acid 생합성에는 negative regulator로 작용한다는 것을 본 연구를 통해 명확하게 확인할 수 있었다.

• KSII Transactions on Internet and Information Systems (TIIS)
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• 제18권3호
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• pp.738-754
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• 2024

Side-channel analysis (SCA) is a cryptanalytic technique that exploits physical leakages, such as power consumption or electromagnetic emanations, from cryptographic devices to extract secret keys used in cryptographic algorithms. Recent studies have shown that training SCA models with semi-supervised learning can effectively overcome the problem of few labeled power traces. However, the process of training SCA models using semi-supervised learning generates many pseudo-labels. The performance of the SCA model can be reduced by some of these pseudo-labels. To solve this issue, we propose the HWFilter method to improve semi-supervised SCA. This method uses a Hamming Weight Pseudo-label Filter (HWPF) to filter the pseudo-labels generated by the semi-supervised SCA model, which enhances the model's performance. Furthermore, we introduce a normal distribution method for constructing the HWPF. In the normal distribution method, the Hamming weights (HWs) of power traces can be obtained from the normal distribution of power points. These HWs are filtered and combined into a HWPF. The HWFilter was tested using the ASCADv1 database and the AES_HD dataset. The experimental results demonstrate that the HWFilter method can significantly enhance the performance of semi-supervised SCA models. In the ASCADv1 database, the model with HWFilter requires only 33 power traces to recover the key. In the AES_HD dataset, the model with HWFilter outperforms the current best semi-supervised SCA model by 12%.

• Journal of Positioning, Navigation, and Timing
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• 제9권2호
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• pp.43-50
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• 2020

In this paper a low power Spreading Code Authentication (SCA) sequence with a BPSK(1) modulation at a frequency offset of +7.161 MHz is tested for authentication purposes, the Galileo E1OS is used as base signal. The tested signals comprise a Galileo constellation with 5 satellites including the Galileo OS Navigation Message Authentication (OSNMA) and a low power offset BPSK (OBPSK(7,1)) as SCA component. The signals are generated with the software based MuSNAT-Signal-Generator. The generated signals were transmitted Over-The-Air (OTA) using a Software-Defined-Radio (SDR) as pseudolite. With a real-environment-testbed the performance of the SCA in real channel conditions (fading and multipath) was tested. A new SCA evaluation scheme is proposed and was implemented. Under real channel conditions we derive experimental threshold values for the new SCA evaluation scheme which allow a robust authentication. A Security Code Estimation and Replay (SCER) spoofing attack was mimicked on the real-environment-testbed and analyzed with the SCA evaluation scheme. It was shown that the usage of an OBPSK is feasible as an authentication method and can be used in combination with the OSNMA to improve the authentication robustness against Security SCER attacks.