Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy

Brain

Volumn 140, Issue 2, 2017, Pages 370-386

  Falik Zaccai, Tzipora C ^a,b   Savitzki, David ^a   Zivony Elboum, Yifat ^a   Vilboux, Thierry ^c,d   Fitts, Eric C ^e   Shoval, Yishay ^a   Kalfon, Limor ^a   Samra, Nadra ^a   Keren, Zohar ^a   Gross, Bella ^a,b   Chasnyk, Natalia ^a   Straussberg, Rachel ^f,g   Mullikin, James C ^c   Teer, Jamie K ^h   Geiger, Dan ⁱ   Kornitzer, Daniel ⁱ   Bitterman Deutsch, Ora ^a,b   Samson, Abraham O ^b   Wakamiya, Maki ^j   Peterson, Johnny W ^e   Kirtley, Michelle L ^e   Pinchuk, Iryna V ^e   Baze, Wallace B ^k   Gahl, William A ^c   Kleta, Robert ^l   Anikster, Yair ^g,m   Chopra, Ashok K ^e   more..

^a WESTERN GALILEE HOSPITAL   (Israel)

^b BAR ILAN UNIVERSITY   (Israel)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d BETTY AND GUY BEATTY CENTER FOR INTEGRATED RESEARCH   (United States)

^e University of Texas Medical Branch School of Medicine   (United States)

^f SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^g TEL AVIV UNIVERSITY   (Israel)

^h H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

ⁱ TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^j UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^k UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m SHEBA MEDICAL CENTER   (Israel)

more..

Author keywords

Autosomal recessive; Complex phospholipid defects; Phospholipase A2 activating protein (PLAA); Progressive leukoencephalopathy; Startle response

Indexed keywords

LEUCINE; PHENYLALANINE; PHOSPHOLIPASE A2; PHOSPHOLIPASE A2 ACTIVATING PROTEIN; PROSTAGLANDIN E2; UNCLASSIFIED DRUG; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PHOSPHOLIPASE A2-ACTIVATING PROTEIN; PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; FIBROBLAST; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MICROCEPHALY; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPASTICITY; ADOLESCENT; ANIMAL; BRAIN; CONSANGUINITY; DIAGNOSTIC IMAGING; DRUG EFFECTS; EMBRYOLOGY; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; LUNG; MALE; MAMMALIAN EMBRYO; METABOLISM; MOLECULAR MODEL; PATHOLOGY; PATHOPHYSIOLOGY; SKIN; TRANSGENIC MOUSE; ULTRASTRUCTURE;

ADOLESCENT; ANIMALS; BRAIN; CHILD; CONSANGUINITY; DINOPROSTONE; EMBRYO, MAMMALIAN; FAMILY HEALTH; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; HUMANS; LEUKOENCEPHALOPATHIES; LUNG; MALE; MICE; MICE, TRANSGENIC; MODELS, MOLECULAR; NF-KAPPA B; PHOSPHOLIPASES A2; PROTEINS; SKIN;

EID: 85014782264     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww295     Document Type: Article

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