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https://www.readbyqxmd.com/read/27884548/infantile-neuroaxonal-dystrophy-and-pla2g6-associated-neurodegeneration-an-update-for-the-diagnosis
#1
REVIEW
Alessandro Iodice, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Gianna Bertani, Patrizia Bergonzini, Francesco Pisani, Carlo Fusco
Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. Phenotypic spectrum continues to evolve and genotype-phenotype correlations are currently limited...
November 21, 2016: Brain & Development
https://www.readbyqxmd.com/read/27882168/monozygotic-twins-with-infantile-neuroaxonal-dystrophy-a-case-report-and-literature-review
#2
Haifeng Li, Yan Zou, Xinhua Bao, Hui Wang, Jiangping Wang, Huiying Jin, Yuping Che, Xiaoyan Tang
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease with early onset. PLA2G6 gene mutations have been identified in the majority individuals with INAD. In future, molecular diagnosis of INAD will replace the invasive biopsies used previously. In the present report, monozygotic male twins with INAD were referred The Children's Hospital (Zhejiang University School of Medicine, Zhejiang, China) at fifteen months old for delayed development. The older brother was found to have developmental stagnation when he was 6 months old...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27709683/pla2g6-mutations-and-parkinsonism-long-term-follow-up-of-clinical-features-and-neuropathology
#3
Christine Klein, Tobias Löchte, Suzanne M Delamonte, Ingrid Braenne, Andrew A Hicks, Katja Zschiedrich-Jansen, David K Simon, Joseph H Friedman, Katja Lohmann
No abstract text is available yet for this article.
October 6, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27602958/epigenome-wide-association-study-of-smoking-and-dna-methylation-in-non-small-cell-lung-neoplasms
#4
Joshua R Freeman, Su Chu, Thomas Hsu, Yen-Tsung Huang
Tobacco smoke is a well-established lung cancer carcinogen. We hypothesize that epigenetic processes underlie carcinogenesis. The objective of this study is to examine the effects of smoke exposure on DNA methylation to search for novel susceptibility loci. We obtained epigenome-wide DNA methylation data from lung adenocarcinoma (LUAD) and lung squamous cell (LUSC) tissues in The Cancer Genome Atlas (TCGA). We performed a two-stage discovery (n = 326) and validation (n = 185) analysis to investigate the association of epigenetic DNA methylation level with cigarette smoking pack-years...
September 2, 2016: Oncotarget
https://www.readbyqxmd.com/read/27516098/validation-of-the-finding-of-hypertrophy-of-the-clava-in-infantile-neuroaxonal-dystrophy-pla2g6-by-biometric-analysis
#5
A Al-Maawali, G Yoon, A S Feigenbaum, W C Halliday, J T R Clarke, H M Branson, B L Banwell, D Chitayat, Susan I Blaser
INTRODUCTION: Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset and clinical presentation in INAD is variable. Typically described imaging features of cerebellar atrophy, cerebellar cortex bright FLAIR signal, and globus pallidus iron deposition are variable or late findings...
August 11, 2016: Neuroradiology
https://www.readbyqxmd.com/read/27513994/identification-of-a-novel-mutation-in-pla2g6-gene-in-a-chinese-pedigree-with-familial-cortical-myoclonic-tremor-with-epilepsy
#6
Lehong Gao, Liping Li, Jing Ye, Xilin Zhu, Ning Shen, Xiating Zhang, Dequan Wang, Yu Gao, Hua Lin, Yuping Wang, Ying Liu
PURPOSE: Familial cortical myoclonic tremor with epilepsy (FCMTE) is an epileptic syndrome with autosomal dominant inheritance, of which four genetic subtypes (FCMTE1-4) have been reported. In the present study, we described the clinical and neurophysiologic features of a newly diagnosed Chinese FCMTE family, and investigated the genetic cause for this disease. METHODS: Clinical information was obtained from affected and normal individuals of an FCMTE family comprising 41 members...
October 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27395788/mitochondria-from-a-mouse-model-of-the-human-infantile-neuroaxonal-dystrophy-inad-with-genetic-defects-in-via-ipla2-have-disturbed-ca-2-regulation-with-reduction-in-ca-2-capacity
#7
Mikhail Strokin, Georg Reiser
Mutations in the PLA2G6 gene which encodes Ca(2+)-independent phospholipase A2 (VIA iPLA2) were detected in 85% of cases of the inherited degenerative nervous system disorder INAD (infantile neuroaxonal dystrophy, OMIM #256600). However, molecular mechanisms linking these mutations to the disease progression are unclear. VIA iPLA2 is expressed also in mitochondria. Here, we investigate Ca(2+) handling by brain mitochondria derived from mice with hypomorph Pla2g6 allele. These animals with reduced transcript levels (5% of wild type) represent a suitable model for INAD...
October 2016: Neurochemistry International
https://www.readbyqxmd.com/read/27395053/identification-of-novel-compound-mutations-in-pla2g6-associated-neurodegeneration-patient-with-characteristic-mri-imaging
#8
Sen Guo, Liu Yang, Huijie Liu, Wei Chen, Jinchen Li, Ping Yu, Zhong Sheng Sun, Xiang Chen, Jie Du, Tao Cai
Neurodegeneration with brain iron accumulation comprises a heterogeneous group of disorders characterized clinically by progressive motor dysfunction. Accurate identification of de novo and rare inherited mutations is important for determining causative genes of undiagnosed neurological diseases. In the present study, we report a unique case with cerebellar ataxia symptoms and social communication difficulties in an intermarriage family. MRI showed a marked cerebellar atrophy and the "eye-of-the-tiger"-like sign in the medial globus pallidus...
July 9, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27378808/child-neurology-two-sisters-with-dystonia-and-regression-pla2g6-associated-neurodegeneration
#9
Robert B Blake, Donald L Gilbert, Mark B Schapiro
No abstract text is available yet for this article.
July 5, 2016: Neurology
https://www.readbyqxmd.com/read/27294386/genetic-mutation-analysis-of-parkinson-s-disease-patients-using-multigene-next-generation-sequencing-panels
#10
Ana Gorostidi, José Félix Martí-Massó, Alberto Bergareche, Mari Cruz Rodríguez-Oroz, Adolfo López de Munain, Javier Ruiz-Martínez
BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disorder, affecting millions of people. Genome-wide association studies (GWAS) have found >25 genetic risk factors and at least 15 loci directly associated with PD. Recent advances in new next-generation DNA sequencing technologies, such as the semiconductor-based Ion Torrent platform, make multigene sequencing cheaper, faster, and more reliable. OBJECTIVES: Our objective was to test the power of this next-generation sequencing technology to analyze large samples by screening the majority of the most relevant PD-related genes known for single and compound mutations...
October 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27268037/clinical-heterogeneity-of-pla2g6-related-parkinsonism-analysis-of-two-saudi-families
#11
Saeed A Bohlega, Bashayer R Al-Mubarak, Eman A Alyemni, Mohamed Abouelhoda, Dorota Monies, Abeer E Mustafa, Dania S Khalil, Sara Al Haibi, Hussam Abou Al-Shaar, Tariq Faquih, Mohamed El-Kalioby, Asma I Tahir, Nada A Al Tassan
BACKGROUND: Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. METHOD: Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features...
2016: BMC Research Notes
https://www.readbyqxmd.com/read/27196560/genetic-analysis-of-pla2g6-in-22-indian-families-with-infantile-neuroaxonal-dystrophy-atypical-late-onset-neuroaxonal-dystrophy-and-dystonia-parkinsonism-complex
#12
Saketh Kapoor, Mohd Hussain Shah, Nivedita Singh, Mohammad Iqbal Rather, Vishwanath Bhat, Sindhura Gopinath, Parayil Sankaran Bindu, Arun B Taly, Sanjib Sinha, Madhu Nagappa, Rose Dawn Bharath, Anita Mahadevan, Gayathri Narayanappa, Yasha T Chickabasaviah, Arun Kumar
Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis of families with members affected with INAD, ANAD and DPC from India. Therefore, the main aim of this study was to perform genetic analysis of 22 Indian families with INAD, ANAD and DPC. DNA sequence analysis of the entire coding region of PLA2G6 identified 13 different mutations, including five novel ones (p...
2016: PloS One
https://www.readbyqxmd.com/read/27146152/utility-of-whole-exome-sequencing-for-the-early-diagnosis-of-pediatric-onset-cerebellar-atrophy-associated-with-developmental-delay-in-an-inbred-population
#13
Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel
BACKGROUND: Cerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the genetic and clinical levels. Patients with these signs also typically present with non-specific neuroimaging results that can help prioritize further investigation but don't suggest a specific molecular diagnosis. METHODS: To genetically explore a cohort of 18 Egyptian families with undiagnosed cerebellar atrophy identified on MRI, we sequenced probands and some non-affected family members via high-coverage whole exome sequencing (WES; >97 % of the exome covered at least by 30x)...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27141409/mitochondrial-dysfunction-and-defects-in-lipid-homeostasis-as-therapeutic-targets-in-neurodegeneration-with-brain-iron-accumulation
#14
Kerri J Kinghorn, Jorge Iván Castillo-Quan
The PLA2G6 gene encodes a group VIA calcium independent phospholipase A2 (iPLA2β), which hydrolyses glycerophospholipids to release fatty acids and lysophospholipids. Mutations in PLA2G6 are associated with a number of neurodegenerative disorders including neurodegeneration with brain iron accumulation (NBIA), infantile neuroaxonal dystrophy (INAD), and dystonia parkinsonism, collectively known as PLA2G6-associated neurodegeneration (PLAN). Recently Kinghorn et al. demonstrated in Drosophila and PLA2G6 mutant fibroblasts that loss of normal PLA2G6 activity is associated with mitochondrial dysfunction and mitochondrial lipid peroxidation...
2016: Rare Diseases
https://www.readbyqxmd.com/read/27127721/pla2g6-mutations-related-to-distinct-phenotypes-a-new-case-with-early-onset-parkinsonism
#15
Anamika Giri, Gamze Guven, Hasmet Hanagasi, Ann-Kathrin Hauser, Nihan Erginul-Unaltuna, Basar Bilgic, Hakan Gurvit, Peter Heutink, Thomas Gasser, Ebba Lohmann, Javier Simón-Sánchez
BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism. METHODS: A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicine. She and her unaffected brother were subjected to whole-genome sequencing...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27078024/progressive-axonal-degeneration-of-nigrostriatal-dopaminergic-neurons-in-calcium-independent-phospholipase-a2%C3%AE-knockout-mice
#16
Goichi Beck, Koei Shinzawa, Hideki Hayakawa, Kousuke Baba, Hisae Sumi-Akamaru, Yoshihide Tsujimoto, Hideki Mochizuki
Calcium-independent phospholipase A2β (iPLA2β, PLA2G6) is essential for the remodeling of membrane glycerophospholipids. Mutations in this gene are responsible for autosomal recessive, young onset, L-dopa-responsive parkinsonism (PARK14), suggesting a neurodegenerative condition in the nigrostriatal dopaminergic system in patients with PLA2G6 mutations. We previously observed slowly progressive motor deficits in iPLA2β-knockout (KO) mice. To clarify whether a deficiency of iPLA2β leads to the degeneration of nigrostriatal dopaminergic neurons, we analyzed the striatum of iPLA2β-KO mice...
2016: PloS One
https://www.readbyqxmd.com/read/27030050/high-expression-of-%C3%AE-synuclein-in-damaged-mitochondria-with-pla2g6-dysfunction
#17
Hisae Sumi-Akamaru, Goichi Beck, Koei Shinzawa, Shinsuke Kato, Yuichi Riku, Mari Yoshida, Harutoshi Fujimura, Yoshihide Tsujimoto, Saburo Sakoda, Hideki Mochizuki
To clarify the role of α-synuclein (αSyn) in neuronal membrane remodeling, we analyzed the expression of αSyn in neurons with a dysfunction of PLA2G6, which is indispensable for membrane remodeling. αSyn/phosphorylated-αSyn (PαSyn) distribution and neurodegeneration were quantitatively estimated in PLA2G6-knockout (KO) mice, which demonstrate marked mitochondrial membrane degeneration. We also assessed the relationship between αSyn deposits and mitochondria in brain tissue from patients with PLA2G6-associated neurodegeneration (PLAN) and Parkinson's disease (PD), and quantitatively examined Lewy bodies (LBs) and neurons...
2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27011642/two-unusual-cases-of-pla2g6-associated-neurodegeneration-from-india
#18
Shilpa D Kulkarni, Meenal Garg, Rafat Sayed, Varsha A Patil
Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India...
January 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/26965686/other-proteins-involved-in-parkinson-s-disease-and-related-disorders
#19
Fernando Cardona, Jordi Pérez-Tur
In order to explain the molecular causes of Parkinson's Disease (PD) it is important to understand the effect that mutations described as causative of the disease have at the functional level. In this special issue, several authors have been reviewing the effects in PD and other parkinsonisms of mutations described in LRRK2, α-synuclein, PINK1-Parkin-DJ-1, UCHL1, ATP13A2, GBA, VPS35, FBOX7 and HTRA2. In this review, we compile the knowledge about other proteins with a more general role in neurodegenerative diseases (MAPT) or for which less data is available due to its recent discovery (EIF4G1, DNAJC13), the lack of structural or functional data (as for PLA2G6 or DNAJC6), or even their doubtful association with the disease (as for GIGYF2, SYNJ1 and SPR)...
March 11, 2016: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/26873633/ipla2%C3%AE-deficiency-attenuates-obesity-and-hepatic-steatosis-in-ob-ob-mice-through-hepatic-fatty-acyl-phospholipid-remodeling
#20
Xiuling Deng, Jiliang Wang, Li Jiao, Tanyarath Utaipan, Sabine Tuma-Kellner, Gerd Schmitz, Gerhard Liebisch, Wolfgang Stremmel, Walee Chamulitrat
PLA2G6 or GVIA calcium-independent PLA2 (iPLA2β) is identified as one of the NAFLD modifier genes in humans, and thought to be a target for NAFLD therapy. iPLA2β is known to play a house-keeping role in phospholipid metabolism and remodeling. However, its role in NAFLD pathogenesis has not been supported by results obtained from high-fat feeding of iPLA2β-null (PKO) mice. Unlike livers of human NAFLD and genetically obese rodents, fatty liver induced by high-fat diet is not associated with depletion of hepatic phospholipids...
May 2016: Biochimica et Biophysica Acta
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