نتایج جستجو برای: asah1 gene

تعداد نتایج: 1141508  

Journal: :Genetics 2008
Hie Lim Kim Yoko Satta

To understand the evolution of human mental activity, we performed population genetic analyses of nucleotide sequences ( approximately 11 kb) from a worldwide sample of 60 chromosomes of the N-acylsphingosine amidohydrolase (ASAH1) gene. ASAH1 hydrolyzes ceramides and regulates neuronal development, and its deficiency often results in mental retardation. In the region ( approximately 4.4 kb) en...

2017
Ninh B. Doan Ha S. Nguyen Mona M. Al-Gizawiy Wade M. Mueller Roger A. Sabbadini Scott D. Rand Jennifer M. Connelly Christopher R. Chitambar Kathleen M. Schmainda Shama P. Mirza

Glioblastoma multiforme (GBM) is the most common primary, intracranial malignancy of the central nervous system. The standard treatment protocol, which involves surgical resection, and concurrent radiation with adjuvant temozolomide (TMZ), still imparts a grim prognosis. Ultimately, all GBMs exhibit recurrence or progression, developing resistance to standard treatment. This study demonstrates ...

2017
Ninh B. Doan Hisham Alhajala Mona M. Al-Gizawiy Wade M. Mueller Scott D. Rand Jennifer M. Connelly Elizabeth J. Cochran Christopher R. Chitambar Paul Clark John Kuo Kathleen M. Schmainda Shama P. Mirza

Glioblastoma remains the most common, malignant primary cancer of the central nervous system with a low life expectancy and an overall survival of less than 1.5 years. The treatment options are limited and there is no cure. Moreover, almost all patients develop recurrent tumors, which typically are more aggressive. Therapeutically resistant glioblastoma or glioblastoma stem-like cells (GSCs) ar...

2013
Abdulfatah M Alayoubi James C M Wang Bryan C Y Au Stéphane Carpentier Virginie Garcia Shaalee Dworski Samah El-Ghamrasni Kevin N Kirouac Mathilde J Exertier Zi Jian Xiong Gilbert G Privé Calogera M Simonaro Josefina Casas Gemma Fabrias Edward H Schuchman Patricia V Turner Razqallah Hakem Thierry Levade Jeffrey A Medin

Farber disease (FD) is a severe inherited disorder of lipid metabolism characterized by deficient lysosomal acid ceramidase (ACDase) activity, resulting in ceramide accumulation. Ceramide and metabolites have roles in cell apoptosis and proliferation. We introduced a single-nucleotide mutation identified in human FD patients into the murine Asah1 gene to generate the first model of systemic ACD...

Journal: :genetics in the 3rd millennium 0
yousef shafeghati a. r. tavassoli f hadipour z. hadipour

farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). characteristics are early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement in affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. thre...

Journal: :Journal of lipid research 2013
Luz Camacho Oscar Meca-Cortés José Luis Abad Simón García Nuria Rubio Alba Díaz Toni Celià-Terrassa Francesca Cingolani Raquel Bermudo Pedro L Fernández Jerónimo Blanco Antonio Delgado Josefina Casas Gemma Fabriàs Timothy M Thomson

Acid ceramidase (AC) catalyzes the hydrolysis of ceramide into sphingosine, in turn a substrate of sphingosine kinases that catalyze its conversion into the mitogenic sphingosine-1-phosphate. AC is expressed at high levels in several tumor types and has been proposed as a cancer therapeutic target. Using a model derived from PC-3 prostate cancer cells, the highly tumorigenic, metastatic, and ch...

2017
Forouzan Absalan

Background and aims: Phthalates, which are commonly used to render plastics into soft and flexible materials, have also determined as developmental and reproductive toxicants in human and animals. The purpose of this study was to evaluate the effect of mono-(2-ethylhexyl) phthalate (MEHP) and di-(2-ethylhexyl) phthalate (DEHP) oral administration on maturation of mouse oocytes, apoptosis and ge...

2011
Michael S. Sabel Yashu Liu Kent A. Griffith Jintang He Xaiolei Xie David M. Lubman

Better prognostic and predictive markers in melanoma are needed to select patients for therapy. We utilized a dual-lectin affinity chromatography and a natural protein microarray-based analysis to select a subproteome of target glycoproteins to profile serum antibodies against melanoma associated antigens that may predict nodal positivity. We identified 5 melanoma-associated antigens using this...

Journal: :Haematologica 2015
Shaalee Dworski Alexandra Berger Caren Furlonger Joshua M Moreau Makoto Yoshimitsu Jessa Trentadue Bryan C Y Au Christopher J Paige Jeffrey A Medin

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