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https://www.readbyqxmd.com/read/29916839/aripiprazole-in-a-patient-of-pla2g6-associated-neurodegeneration-with-psychosis
#1
Mao-Hsuan Huang, Yu-Chuan Chiu, Chia-Fen Tsai
PLA2G6-associated neurodegeneration is a major subtype of neurodegeneration with brain iron accumulation. Patients with PLA2G6-associated neurodegeneration usually present degenerative motor symptoms with neuropsychiatric disturbance. This report presents a patient with PLA2G6-related dystonia-parkinsonism, who had neuropsychiatric symptoms preceding movement symptoms. Antipsychotic drug was prescribed, and he developed parkinsonism years later. Differential diagnosis between drug-induced parkinsonism and PLA2G6-related dystonia-parkinsonism could be challenging...
June 18, 2018: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/29909971/phospholipase-pla2g6-a-parkinsonism-associated-gene-affects-vps26-and-vps35-retromer-function-and-ceramide-levels-similar-to-%C3%AE-synuclein-gain
#2
Guang Lin, Pei-Tseng Lee, Kuchuan Chen, Dongxue Mao, Kai Li Tan, Zhongyuan Zuo, Wen-Wen Lin, Liping Wang, Hugo J Bellen
Mutations in PLA2G6 (PARK14) cause neurodegenerative disorders in humans, including autosomal recessive neuroaxonal dystrophy and early-onset parkinsonism. We show that loss of iPLA2-VIA, the fly homolog of PLA2G6, reduces lifespan, impairs synaptic transmission, and causes neurodegeneration. Phospholipases typically hydrolyze glycerol phospholipids, but loss of iPLA2-VIA does not affect the phospholipid composition of brain tissue but rather causes an elevation in ceramides. Reducing ceramides with drugs, including myriocin or desipramine, alleviates lysosomal stress and suppresses neurodegeneration...
June 7, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/29878111/discovery-fine-mapping-and-conditional-analyses-of-genetic-variants-associated-with-c-reactive-protein-in-multiethnic-populations-using-the-metabochip-in-the-population-architecture-using-genomics-and-epidemiology-page-study
#3
Jonathan M Kocarnik, Melissa Richard, Misa Graff, Jeffrey Haessler, Stephanie Bien, Chris Carlson, Cara L Carty, Alexander P Reiner, Christy L Avery, Christie M Ballantyne, Andrea Z LaCroix, Themistocles L Assimes, Maja Barbalic, Nathan Pankratz, Weihong Tang, Ran Tao, Dongquan Chen, Gregory A Talavera, Martha L Daviglus, Diana A Chirinos, Rocio Pereira, Katie Nishimura, Petra Bužková, Lyle G Best, José Luis Ambite, Iona Cheng, Dana C Crawford, Lucia A Hindorff, Myriam Fornage, Gerardo Heiss, Kari E North, Christopher A Haiman, Ulrike Peters, Loic Le Marchand, Charles Kooperberg
Introduction: C-reactive protein (CRP) is a circulating biomarker indicative of systemic inflammation. We aimed to evaluate genetic associations with CRP levels among non-European-ancestry populations through discovery, fine-mapping, and conditional analyses. Methods: 30,503 non-European-ancestry participants from six studies participating in the Population Architecture using Genomics and Epidemiology (PAGE) study had serum high-sensitivity CRP measurements and ∼200,000 single nucleotide polymorphisms (SNPs) genotyped on the Metabochip...
June 5, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29859652/pla2g6-associated-neurodegeneration-lessons-from-neurophysiological-findings
#4
Cyril Gitiaux, Anna Kaminska, Nathalie Boddaert, Giulia Barcia, Sophie Guéden, Sylvie Nguyen The Tich, Pascale De Lonlay, Susana Quijano-Roy, Marie Hully, Yann Péréon, Isabelle Desguerre
BACKGROUND AND AIMS: Phospholipase A2 associated neurodegeneration (PLAN) is a heterogeneous autosomal recessive disorder caused by mutations in the ubiquitously expressed PLA2G6 gene. It is responsible for delayed brain iron accumulation and induces progressive psychomotor regression. We report the concomitant clinical, radiological and neurophysiological findings in PLAN patients in an attempt to determine the contribution of each test to guide diagnosis. METHODS: Concomitant clinical, radiological, electroencephalographic (EEG) and electrodiagnostic testing (EDX) findings in a series of 8 consecutive genetically confirmed PLAN patients were collected...
May 22, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29761267/porcine-fc%C3%AE%C2%B5ri-mediates-porcine-reproductive-and-respiratory-syndrome-virus-multiplication-and-regulates-the-inflammatory-reaction
#5
Peidian Shi, Lilin Zhang, Jiashun Wang, Dong Lu, Yi Li, Jie Ren, Menglu Shen, Lei Zhang, Jinhai Huang
Porcine reproductive and respiratory syndrome virus (PRRSV) shows characteristic antibody-dependent enhancement (ADE) of infection and causes porcine systemic inflammation, which is similar to a type I allergic reaction; however, the role of porcine FcεRI in ADE is still unclear. In this study, the expression of different Fc receptors (FcRs) on macrophages was investigated in a PRRSV 3D4/21 cell infection model in the presence or absence of PRRSV antibody. The transcription level of FcγII and FcεRI was significantly up-regulated under PRRSV-antibody complex infection...
May 14, 2018: Virologica Sinica
https://www.readbyqxmd.com/read/29753029/inherited-genetic-variants-associated-with-melanoma-braf-nras-subtypes
#6
Nancy E Thomas, Sharon N Edmiston, Irene Orlow, Peter A Kanetsky, Li Luo, David C Gibbs, Eloise A Parrish, Honglin Hao, Klaus J Busam, Bruce K Armstrong, Anne Kricker, Anne E Cust, Hoda Anton-Culver, Stephen B Gruber, Richard P Gallagher, Roberto Zanetti, Stefano Rosso, Lidia Sacchetto, Terence Dwyer, David W Ollila, Colin B Begg, Marianne Berwick, Kathleen Conway
BRAF and NRAS mutations arise early in melanoma development but their associations with low-penetrance melanoma susceptibility loci remain unknown. In the Genes, Environment and Melanoma (GEM) Study, 1223 European-origin participants had their incident invasive primary melanomas screened for BRAF/NRAS mutations and germline DNA genotyped for 47 single-nucleotide polymorphisms (SNPs) identified as low-penetrant melanoma risk variants. We used multinomial logistic regression to simultaneously examine each SNP's relationship to BRAF V600E, BRAF V600K, BRAF other, and NRAS+ relative to BRAF-/NRAS- melanoma adjusted for study features...
May 9, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29739362/case-report-of-a-novel-homozygous-splice-site-mutation-in-pla2g6-gene-causing-infantile-neuroaxonal-dystrophy-in-a-sudanese-family
#7
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih, Ashraf Yahia, Rayan A Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I Elbashir, Muntaser E Ibrahim, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. CASE PRESENTATION: Two Sudanese siblings presented, at ages 18 and 24 months, with regression in both motor milestones and speech development and hyper-reflexia...
May 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29642561/%C3%AE-nicotinamide-adenine-dinucleotide-%C3%AE-nad-inhibits-atp-dependent-il-1%C3%AE-release-from-human-monocytic-cells
#8
Sebastian Daniel Hiller, Sarah Heldmann, Katrin Richter, Innokentij Jurastow, Mira Küllmar, Andreas Hecker, Sigrid Wilker, Gabriele Fuchs-Moll, Ivan Manzini, Günther Schmalzing, Wolfgang Kummer, Winfried Padberg, J Michael McIntosh, Jelena Damm, Anna Zakrzewicz, Veronika Grau
While interleukin-1β (IL-1β) is a potent pro-inflammatory cytokine essential for host defense, high systemic levels cause life-threatening inflammatory syndromes. ATP, a stimulus of IL-1β maturation, is released from damaged cells along with β-nicotinamide adenine dinucleotide (β-NAD). Here, we tested the hypothesis that β-NAD controls ATP-signaling and, hence, IL-1β release. Lipopolysaccharide-primed monocytic U937 cells and primary human mononuclear leukocytes were stimulated with 2'(3')- O -(4-benzoyl-benzoyl)ATP trieethylammonium salt (BzATP), a P2X7 receptor agonist, in the presence or absence of β-NAD...
April 10, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29577851/structural-and-aggregation-properties-of-alpha-synuclein-linked-to-phospholipase-a2-action
#9
Kerensa Broersen, Violeta Ruiperez, Bazbek Davletov
Alpha-synuclein is a protein involved in the pathogenesis of Parkinson's disease. The physiological function of alpha-synuclein is unknown although the protein has been reported to extensively interact with membranes and lipid vesicles. We and others recently suggested that specific brain-enriched polyunsaturated fatty acids, e.g. arachidonic acid, can also give rise to a conformational change in alpha-synuclein and ultimately induces its fibrillation. Arachidonic acid is released by phospholipase A2 activity and clinical observations have shown a link between mutations in PLA2G6, the gene responsible for the production of phospholipase A2, and early onset types of parkinsonism...
March 26, 2018: Protein and Peptide Letters
https://www.readbyqxmd.com/read/29504901/association-of-cerebrovascular-dysfunction-with-the-development-of-alzheimer-s-disease-like-pathology-in-oxys-rats
#10
Natalia A Stefanova, Kseniya Yi Maksimova, Ekaterina A Rudnitskaya, Natalia A Muraleva, Nataliya G Kolosova
BACKGROUND: Cerebrovascular dysfunction plays a critical role in the pathogenesis of Alzheimer's disease (AD): the most common cause of dementia in the elderly. The involvement of neurovasculature disorders in the progression of AD is now increasingly appreciated, but whether they represent initial factors or late-stage pathological changes during the disease is unclear. Using senescence-accelerated OXYS rats, which simulate key characteristics of sporadic AD, we evaluated contributions of cerebrovascular alterations to the disease development...
February 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29454663/novel-pla2g6-mutations-and-clinical-heterogeneity-in-chinese-cases-with-phospholipase-a2-associated-neurodegeneration
#11
Yi-Jun Chen, Yu-Chao Chen, Hai-Lin Dong, Li-Xi Li, Wang Ni, Hong-Fu Li, Zhi-Ying Wu
INTRODUCTION: Phospholipase A2-associated neurodegeneration (PLAN) is an autosomal recessive movement disorder with abnormal iron deposition in basal ganglia, substantial nigra and adjacent areas, and cerebellar atrophy. It is caused by PLA2G6 mutations and comprises three phenotypes. We aimed to investigate genetic mutations in patients with predominantly extrapyramidal symptoms. METHODS: Eighteen Chinese patients with early onset of extrapyramidal symptoms were identified and underwent targeted next-generation sequencing, followed by Sanger sequencing...
April 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29440694/mutations-in-the-drosophila-homolog-of-human-pla2g6-give-rise-to-age-dependent-loss-of-psychomotor-activity-and-neurodegeneration
#12
Konstantin G Iliadi, Oxana B Gluscencova, Natalia Iliadi, Gabrielle L Boulianne
Infantile neuroaxonal dystrophy (INAD) is a fatal neurodegenerative disorder that typically begins within the first few years of life and leads to progressive impairment of movement and cognition. Several years ago, it was shown that >80% of patients with INAD have mutations in the phospholipase gene, PLA2G6. Interestingly, mutations in PLA2G6 are also causative in two other related neurodegenerative diseases, atypical neuroaxonal dystrophy and Dystonia-parkinsonism. While all three disorders give rise to similar defects in movement and cognition, some defects are unique to a specific disorder...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29344929/pla2g6-deficiency-in-zebrafish-leads-to-dopaminergic-cell-death-axonal-degeneration-increased-%C3%AE-synuclein-expression-and-defects-in-brain-functions-and-pathways
#13
Elena Sánchez, Luis J Azcona, Coro Paisán-Ruiz
This study aimed to gain insights into the pathophysiology underlying PLA2G6-associated neurodegeneration that is implicated in three different neurological disorders, suggesting that other, unknown genetic or environmental factors might contribute to its wide phenotypic expression. To accomplish this, we downregulated the function of pla2g6 in the zebrafish nervous system, performed parkinsonism-related phenotypic characterization, and determined the effects of gene regulation upon the loss of pla2g6 function by using RNA sequencing and downstream analyses...
January 17, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29325618/neurodegeneration-with-brain-iron-accumulation
#14
Susan J Hayflick, Manju A Kurian, Penelope Hogarth
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2 -associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#15
REVIEW
Susanne A Schneider, Roy N Alcalay
Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3)...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29108286/park14-pla2g6-mutants-are-defective-in-preventing-rotenone-induced-mitochondrial-dysfunction-ros-generation-and-activation-of-mitochondrial-apoptotic-pathway
#16
Ching-Chi Chiu, Tu-Hsueh Yeh, Chin-Song Lu, Yin-Cheng Huang, Yi-Chuan Cheng, Ying-Zu Huang, Yi-Hsin Weng, Yu-Chuan Liu, Szu-Chia Lai, Ying-Ling Chen, Yu-Jie Chen, Chao-Lang Chen, Hsin-Yi Chen, Yan-Wei Lin, Hung-Li Wang
Mutations in the gene encoding Ca2+ -independent phospholipase A2 group 6 (PLA2G6) cause the recessive familial type 14 of Parkinson's disease (PARK14). Mitochondrial dysfunction is involved in the pathogenesis of Parkinson's disease (PD). PLA2G6 is believed to be required for maintaining mitochondrial function. In the present study, rotenone-induced cellular model of PD was used to investigate possible molecular pathogenic mechanism of PARK14 mutant PLA2G6-induced PD. Overexpression of wild-type (WT) PLA2G6 ameliorated rotenone-induced apoptotic death of SH-SY5Y dopaminergic cells...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29036293/rare-germline-variants-in-known-melanoma-susceptibility-genes-in-familial-melanoma
#17
Alisa M Goldstein, Yanzi Xiao, Joshua Sampson, Bin Zhu, Melissa Rotunno, Hunter Bennett, Yixuan Wen, Kristine Jones, Aurelie Vogt, Laurie Burdette, Wen Luo, Bin Zhu, Meredith Yeager, Belynda Hicks, Jiali Han, Immaculata De Vivo, Stella Koutros, Gabriella Andreotti, Laura Beane-Freeman, Mark Purdue, Neal D Freedman, Stephen J Chanock, Margaret A Tucker, Xiaohong R Yang
Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk in <40% of melanoma-prone families, suggesting the existence of additional high-risk genes or perhaps a polygenic mechanism involving multiple genetic modifiers. The goal of this study was to systematically characterize rare germline variants in 42 established melanoma genes among 144 CMM patients in 76 American CMM families without known mutations using data from whole-exome sequencing. We identified 68 rare (<0.1% in public and in-house control datasets) nonsynonymous variants in 25 genes...
December 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28993562/ultrastructural-features-of-canine-neuroaxonal-dystrophy-in-a-papillon-dog
#18
Miyuu Tanaka, Shinobu Yamaguchi, Hideo Akiyoshi, Masaya Tsuboi, Kazuyuki Uchida, Takeshi Izawa, Jyoji Yamate, Mitsuru Kuwamura
Neuroaxonal dystrophy (NAD) is a neurodegenerative disease characterized by severe axonal swelling (spheroids) throughout the nervous system. In dogs, NAD has been reported in several breeds and a missense mutation in PLA2G6 gene has recently been identified in the Papillon dog NAD. Here we performed ultrastructural analysis to clarify the detailed ultrastructural features of the Papillon dog NAD. Dystrophic axons consisted of accumulation of filamentous materials, tubulovesicular structures, and swollen edematous mitochondria with degenerated inner membranes were often observed in the central nervous system...
December 6, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28991683/a-new-pla2g6-mutation-in-a-family-with-infantile-neuroaxonal-dystrophy
#19
Grazia Iannello, Claudio Graziano, Giovanna Cenacchi, Duccio Maria Cordelli, Roberta Zuntini, Valentina Papa, Anna Maria Magistà, Monica Gagliardi, Radha Procopio, Aldo Quattrone, Grazia Annesi
Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis. PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14)...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28914269/looking-beyond-the-exome-a-phenotype-first-approach-to-molecular-diagnostic-resolution-in-rare-and-undiagnosed-diseases
#20
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
April 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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