For Peer Review Phospholipase A 2 activating protein is associated with a novel form of Leukoencephalopathy
نویسندگان
چکیده
Complete List of Authors: Falik-Zaccai, Tzipora; Galilee Medical Center; Faculty of Medicine in the Galilee, Bar Ilan University Savitzki, David; Galilee Medical Center Zivony-Elboum, Yifat; Galilee Medical Center Vilboux, Thierry; National Human Genome Research Institute, National Institutes of Health; Inova Translational Medicine Institute, Inova Health System Fitts, Eric; University of Texas Medical Branch at Galveston Shoval, Yishay; Galilee Medical Center Kalfon, Limor; Galilee Medical Center Samra, Nadra; Galilee Medical Center Keren, Zohar; Galilee Medical Center Gross, Bella; Galilee Medical Center; Faculty of Medicine in the Galilee, Bar Ilan University Chasnyk, Natalia; Galilee Medical Center Straussberg, Rachel; Schneider Children’s Medical Center of Israel, Epilepsy Unit; Tel Aviv University Sackler Faculty of Medicine Mullikin, James; National Human Genome Research Institute, National Institutes of Health, NIH Intramural Sequencing Center (NISC) Teer, Jamie; H. Lee Moffitt Cancer Center Geiger, Dan; Technion Israel Institute of Technology, Computer Sciences Kornitzer, Daniel; Technion Israel Institute of Technology, Institute of Biomedical Sciences Bitterman-Deutsch, Ora; Galilee Medical Center; Faculty of Medicine in the Galilee, Bar Ilan University Samson, Abraham; Faculty of Medicine in the Galilee, Bar Ilan University Wakamiya, Maki; University of Texas Medical Branch at Galveston Peterson, Johnny; University of Texas Medical Branch at Galveston Kirtley, Michelle; University of Texas Medical Branch at Galveston Pinchuk, Iryna; University of Texas Medical Branch at Galveston Baze, Wallace; University of Texas MD Anderson Cancer Center Michale E Keeling Center for Comparative Medicine and Research Gahl, William; National Human Genome Research Institute, National Institutes of Health Kleta, Robert; UCL Institute of Child Health and Great Ormond Street Hospital NHS Trust Anikster, Yair; Edmond and Lily Safra Children\'s Hospital; Tel Aviv University Sackler Faculty of Medicine
منابع مشابه
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system. These disorders of the brain are categorized according to neuroradiological and pathophysiological criteria. Herein, we have identified a unique form of leukoencephalopathy in seven patients presenting at ages 2 to 4 months with progressiv...
متن کاملActivation of calcium/calmodulin-dependent kinase II following bovine rotavirus enterotoxin NSP4 expression
Objective(s): The rotavirus nonstructural protein 4 (NSP4) is responsible for the increase in cytoplasmic calcium concentration through a phospholipase C-dependent and phospholipase C-independent pathways in infected cells. It is shown that increasing of intracellular calcium concentration in rotavirus infected cells is associated with the activation of some members of protein kinases family su...
متن کاملEffects of T208E activating mutation on MARK2 protein structure and dynamics: Modeling and simulation
Microtubule Affinity-Regulating Kinase 2 (MARK2) protein has a substantial role in regulation of vital cellular processes like induction of polarity, regulation of cell junctions, cytoskeleton structure and cell differentiation. The abnormal function of this protein has been associated with a number of pathological conditions like Alzheimer disease, autism, several carcinomas and development of...
متن کاملThe TREM2-DAP12 signaling pathway in Nasu–Hakola disease: a molecular genetics perspective
Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a rare recessively inherited disease that is associated with early dementia and bone cysts with fractures. Here, we review the genetic causes of PLOSL with loss-of-function mutations or deletions in one of two genes, TYROBP and TREM2, encoding for two proteins DNAX-activating protein 1...
متن کاملPolyomavirus-Associated Progressive Multifocal Leukoencephalopathy (PML) in HAART era
Polyomaviruses may cause human disease, particularly in immunocompromised hosts. JCV, one of the members of polyomaviridae family, is the causative agent of the neurological disease progressive multifocal leukoencephalopathy (PML), which occurs mostly in immunocompromised patients. Progressive Multifocal leukoencephalopathy (PML) is a progressive demyelinating disorder of the central nervous sy...
متن کاملI-15: Assessment of Transcript and Protein Profiles of Infertile Individual May Help to Select Individuals with Low Fertilization Potential Candidate of Artificial Oocyte Activation
Background Following sperm penetration, oocyte is activated by sperm oocyte activating factors (SOAFs) released by sperm. Spermspecific phospholipase C isoform ζ (PLCζ) and post acrosomal WW binding protein (PAWP) are two nominees for the SOAF. PLCζ is located back-to-back with another testis-specific gene called CAPZA3. These two genes share a common bidirectional promoter. In this study we as...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2016