نتایج جستجو برای: npc disease

تعداد نتایج: 1493906  

Journal: :Journal of neuropathology and experimental neurology 2013
Jessica H Bagel Tracey U Sikora Maria Prociuk Jill P Pesayco Andrew P Mizisin G Diane Shelton Charles H Vite

Niemann-Pick disease type C (NPC disease) is an incurable, neurodegenerative, autosomal recessive disease caused by mutations in either the NPC1 or the NPC2 gene. These mutations affect the intracellular trafficking of lipids and cholesterol, resulting in the intralysosomal accumulation of unesterified cholesterol and glycosphingolipids. These abnormalities are associated with clinical ataxia a...

Journal: :Cancer research 2011
Xin-Jian Li Choon Kiat Ong Yun Cao Yan-Qun Xiang Jian-Yong Shao Aikseng Ooi Li-Xia Peng Wen-Hua Lu Zhongfa Zhang David Petillo Li Qin Ying-Na Bao Fang-Jing Zheng Claramae Shulyn Chia N Gopalakrishna Iyer Tie-Bang Kang Yi-Xin Zeng Khee Chee Soo Jeffrey M Trent Bin Tean Teh Chao-Nan Qian

Nasopharyngeal carcinoma (NPC) is known for its high-metastatic potential. Here we report the identification of the proteoglycan serglycin as a functionally significant regulator of metastasis in this setting. Comparative genomic expression profiling of NPC cell line clones with high- and low-metastatic potential revealed the serglycin gene (SRGN) as one of the most upregulated genes in highly ...

Journal: :The Journal of pathology 2015
Lee Fah Yap Sharmila Velapasamy Hui Min Lee Selvam Thavaraj Pathmanathan Rajadurai Wenbin Wei Katerina Vrzalikova Maha Hafez Ibrahim Alan Soo-Beng Khoo Sai Wah Tsao Ian C Paterson Graham S Taylor Christopher W Dawson Paul G Murray

Undifferentiated nasopharyngeal carcinoma (NPC) is a highly metastatic disease that is consistently associated with Epstein-Barr virus (EBV) infection. In this study, we have investigated the contribution of lysophosphatidic acid (LPA) signalling to the pathogenesis of NPC. Here we demonstrate two distinct functional roles for LPA in NPC. First, we show that LPA enhances the migration of NPC ce...

2015
Keiichi Motoyama Yumi Hirai Rena Nishiyama Yuki Maeda Taishi Higashi Yoichi Ishitsuka Yuki Kondo Tetsumi Irie Takumi Era Hidetoshi Arima

The Niemann-Pick type C disease (NPC) is one of inherited lysosomal storage disorders, emerges the accumulation of unesterified cholesterol in endolysosomes. Currently, 2-hydroxypropyl-β-cyclodextrin (HP-β-CyD) has been applied for the treatment of NPC. HP-β-CyD improved hepatosplenomegaly in NPC patients, however, a high dose of HP-β-CyD was necessary. Therefore, the decrease in dose by active...

2011
Sheng-Fa Su Fei Han Chong Zhao Ying Huang Chun-Yan Chen Wei-Wei Xiao Jia-Xin Li Tai-Xiang Lu

Although many studies have investigated intensity-modulated radiation therapy (IMRT) for nasopharyngeal carcinoma (NPC), sample sizes in the reported studies are usually small and different in outcomes in different T and N subgroups are seldom analyzed. Herein, we evaluated the outcomes of NPC patients treated with IMRT and further explored treatment strategy to improve such outcome. We collect...

Journal: :EBioMedicine 2016
Xuntian Jiang Daniel S Ory

Niemann–Pick C (NPC) disease is rare, neurodegenerative, lysosomal cholesterol storage disorder. Diagnosis of the disease is often delayed due to disease heterogeneity, non-specific early visceral and neurological symptoms, and lack of a rapid and reliable diagnostic assay. As a result, the disease progresses and opportunities to intervene tragically are lost. Until recently, the principal diag...

2016
Ren-Hui Chen Yong Du Ping Han Hong-Bo Wang Fa-Ya Liang Guo-Kai Feng Ai-Jun Zhou Mu-Yan Cai Qian Zhong Mu-Sheng Zeng Xiao-Ming Huang

Interferon-stimulated gene 15 (ISG15), the first identified ubiquitin-like protein, is known for its anti-viral capacity. However, its role in tumorigenesis remains controversial. Here, using RNA-seq profiling analysis, we identified ISG15 as a differentially expressed gene in nasopharyngeal carcinoma (NPC) and validated its overexpression in NPC samples and cells. High ISG15 levels in NPC tiss...

Journal: :Head & neck 2014
Ming-Ying Lan Wu-Lung R Yang Kuan-Ting Lin Jin-Ching Lin Yih-Jyh Shann Ching-Yin Ho Chi-Ying F Huang

BACKGROUND Nasopharyngeal carcinoma (NPC) is a unique cancer. Refinement of current therapy by discovering potential drugs may be approached by several computational strategies. METHODS We collected NPC genes from published microarray data and the literature. The NPC disease network was constructed via a protein-protein interaction (PPI) network. The Connectivity Map (CMap) was used to predic...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2003
K A Josephs M W Van Gerpen J A Van Gerpen

Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures. A recent case report demonstrated a delay in diagnosis of eight years when a patient with NPC presented with ...

2013
Barry E. Kennedy Veronique G. LeBlanc Tiffany M. Mailman Debra Fice Ian Burton Tobias K. Karakach Barbara Karten

Niemann-Pick Type C (NPC) disease is an autosomal recessive neurodegenerative disorder caused in most cases by mutations in the NPC1 gene. NPC1-deficiency is characterized by late endosomal accumulation of cholesterol, impaired cholesterol homeostasis, and a broad range of other cellular abnormalities. Although neuronal abnormalities and glial activation are observed in nearly all areas of the ...

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