نتایج جستجو برای: npc disease

تعداد نتایج: 1493906  

Journal: :Saudi medical journal 2014
Xin-Hua Xu Yang Liu

Nasopharyngeal carcinoma (NPC) is a polygenic disease related to a variety of factors. With the development of the microRNAs (miRNAs) technique, researchers found a close link between miRNAs and NPC. Differentially expressed miRNAs exist in NPC and normal nasopharyngeal tissues; radiotherapy and chemotherapy also affect the expression of miRNAs in NPC tissues. Further studies showed that dysreg...

Journal: :The Biochemical journal 2005
Saara Vainio Igor Bykov Martin Hermansson Eija Jokitalo Pentti Somerharju Elina Ikonen

Niemann-Pick type C (NPC) disease is a neuro-visceral cholesterol storage disorder caused by mutations in the NPC-1 or NPC-2 gene. In the present paper, we studied IR (insulin receptor) activation and the plasma-membrane lipid assembly in primary hepatocytes from control and NPC1-/- mice. We have previously reported that, in hepatocytes, IR activation is dependent on cholesterol-sphingolipid ra...

2018
Heiko Runz Maria D Ledesma

Niemann–Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with extensive biological, molecular, and clinical heterogeneity. Recently, numerous studies have tried to shed light on the pathophysiology of the disease, highlighting possible disease pathways common to other neurodegenerative disorders, such as Alzheimer’s disease and frontotemporal dementia, and iden...

2018
Alberto Benussi Maria Sofia Cotelli Alessandro Padovani Barbara Borroni

Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with extensive biological, molecular, and clinical heterogeneity. Recently, numerous studies have tried to shed light on the pathophysiology of the disease, highlighting possible disease pathways common to other neurodegenerative disorders, such as Alzheimer's disease and frontotemporal dementia, and iden...

2015
Tavan Janvilisri

Nasopharyngeal carcinoma (NPC) is a head and neck cancer that is highly found in distinct geographic areas, such as Southeast Asia. The management of NPC remains burdensome as the prognosis is poor due to the late presentation of the disease and the complex nature of NPC pathogenesis. Therefore, it is necessary to find effective molecular markers for early detection and therapeutic measure of N...

2016
Min Deng Yong Jiang Xiaojuan Zhou Xue Tian Youling Gong

Although direct intracranial invasion is common in patients with nasopharyngeal carcinoma (NPC), multiple brain metastases from NPC is extremely rare. In this case, the clinical features, imaging, pathological findings, treatment outcomes, prognosis of an NPC patient with brain metastasis are described. Combining the clinical symptoms with auxiliary examination, the disease more likely to be or...

2011
Keiji Tabuchi Masahiro Nakayama Bungo Nishimura Kentaro Hayashi Akira Hara

Nasopharyngeal carcinoma (NPC) is a unique disease with a clinical presentation, epidemiology, and histopathology differing from other squamous cell carcinomas of the head and neck. NPC is an Epstein-Barr virus-associated malignancy with a marked racial and geographic distribution. Specifically, it is highly prevalent in southern China, Southeast Asia, and the Middle East. To date, most NPC pat...

Journal: :Human molecular genetics 2012
Matthew J Elrick Ting Yu Chan Chung Andrew P Lieberman

Niemann-Pick type C disease (NPC) is a childhood onset neurodegenerative disorder arising from lipid-trafficking defects caused by mutations in the NPC1 or NPC2 gene. Marked accumulation of autophagosomes is a prominent feature of NPC cells, yet a detailed understanding of the disease-associated alterations in autophagy and their role in pathogenesis has been lacking. Prior studies have shown t...

2014
Tamara Marín Pablo Contreras Juan Francisco Castro David Chamorro Elisa Balboa Mònica Bosch-Morató Francisco J. Muñoz Alejandra R. Alvarez Silvana Zanlungo

Niemann-Pick C (NPC) disease is a fatal neurodegenerative disorder characterized by the accumulation of free cholesterol in lysosomes. We have previously reported that oxidative stress is the main upstream stimulus activating the proapoptotic c-Abl/p73 pathway in NPC neurons. We have also observed accumulation of vitamin E in NPC lysosomes, which could lead to a potential decrease of its bioava...

2015
Eka Savitri Mubarika Sofia Haryana

Interleukin-8 (IL-8) is angiogeneic chemokine that plays a potential role in both development and progression of many human malignancies including nasopharyngeal carcinoma (NPC). Epstein- Barr virus (EBV) is recognized to be an important etiologic agent of NPC as the viral gene products are frequently detected in NPC tissue along with the elevation of antibody titre to the viral protein (VCA-p1...

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