keyword
MENU ▼
Read by QxMD icon Read
search

pla2g6

keyword
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#1
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28655161/dysfunction-of-pla2g6-and-cyp2c44-associated-network-signals-imminent-carcinogenesis-from-chronic-inflammation-to-hepatocellular-carcinoma
#2
Meiyi Li, Chen Li, Wei-Xin Liu, Conghui Liu, Jingru Cui, Qingrun Li, Hong Ni, Yingcheng Yang, Chaochao Wu, Chunlei Chen, Xing Zhen, Tao Zeng, Mujun Zhao, Lei Chen, Jiarui Wu, Rong Zeng, Luonan Chen
Little is known about how chronic inflammation contributes to the progression of hepatocellular carcinoma (HCC), especially the initiation of cancer. To uncover the critical transition from chronic inflammation to HCC and the molecular mechanisms at a network level, we analyzed the time-series proteomic data of woodchuck hepatitis virus/c-myc mice and age-matched wt-C57BL/6 mice using our dynamical network biomarker (DNB) model. DNB analysis indicated that the 5th month after birth of transgenic mice was the critical period of cancer initiation, just before the critical transition, which is consistent with clinical symptoms...
June 26, 2017: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/28651698/an-association-between-pla2g6-and-pla2g4c-gene-polymorphisms-and-schizophrenia-risk-and-illness-severity-in-a-croatian-population
#3
Sergej Nadalin, Alena Buretić-Tomljanović
We investigated the allele and genotype frequency of the rs4375 and rs1549637 polymorphisms in phospholipase A2 (PLA2)G6 and PLA2G4C genes in 203 patients with schizophrenia and 191 controls in a Croatian population. We hypothesized that these polymorphic variations might influence the age of schizophrenia onset and Positive and Negative Syndrome Scale psychopathology (PANSS) data. We detected a significant overrepresentation of the PLA2G6-CT and PLA2G4C-AT genotype combination in patients compared with controls (14...
June 2017: Prostaglandins, Leukotrienes, and Essential Fatty Acids
https://www.readbyqxmd.com/read/28542792/on-the-complexity-of-clinical-and-molecular-bases-of-neurodegeneration-with-brain-iron-accumulation
#4
REVIEW
Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós
Neurodegeneration with brain iron accumulation (NBIA) are a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain MRI evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17, and. Nonetheless, a relevant percentage of patients remain without genetic diagnosis, suggesting that other novel NBIA genes remain to be discovered...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28445716/trumping-neurodegeneration-targeting-common-pathways-regulated-by-autosomal-recessive-parkinson-s-disease-genes
#5
REVIEW
Laura Scott, Valina L Dawson, Ted M Dawson
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized by the progressive loss of dopaminergic (DA) neurons. Most PD cases are sporadic; however, rare familial forms have been identified. Autosomal recessive PD (ARPD) results from mutations in Parkin, PINK1, DJ-1, and ATP13A2, while rare, atypical juvenile ARPD result from mutations in FBXO7, DNAJC6, SYNJ1, and PLA2G6. Studying these genes and their function has revealed mitochondrial quality control, protein degradation processes, and oxidative stress responses as common pathways underlying PD pathogenesis...
April 23, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28295203/pla2g6-mutations-associated-with-a-continuous-clinical-spectrum-from-neuroaxonal-dystrophy-to-hereditary-spastic-paraplegia
#6
B Ozes, N Karagoz, R Schüle, A Rebelo, M-J Sobrido, F Harmuth, M Synofzik, S I P Pascual, M Colak, B Ciftci-Kavaklioglu, B Kara, A Ordóñez-Ugalde, B Quintáns, M A Gonzalez, A Soysal, S Zuchner, E Battaloglu
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging...
March 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28279750/neurons-and-astrocytes-in-an-infantile-neuroaxonal-dystrophy-inad-mouse-model-show-characteristic-alterations-in-glutamate-induced-ca-2-signaling
#7
Mikhail Strokin, Georg Reiser
INAD (infantile neuroaxonal dystrophy, OMIM#256600), an autosomal recessive inherited degenerative disease, is associated with PLA2G6 mutations. PLA2G6 encodes Ca(2+)-independent phospholipase A2 (VIA iPLA2). However, it is unclear how the PLA2G6-mutations lead to disease. Non-canonical functions, which were suggested for VIA iPLA2, such as regulation of cellular and mitochondrial Ca(2+) are promising candidates. Therefore, we investigate glutamate (Glu)-evoked Ca(2+) signals in neurons and astrocytes in co-culture obtained from three INAD mouse model strains with Pla2g6 mutations, (i) hypomorphic Pla2g6 allele with reduced transcript levels, (ii) knocked-out Pla2g6, and (iii) (G373R)-point mutation with inactive VIA iPLA2 enzyme...
March 6, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28213071/pla2g6-accumulates-in-lewy-bodies-in-park14-and-idiopathic-parkinson-s-disease
#8
Yasuo Miki, Kunikazu Tanji, Fumiaki Mori, Akiyoshi Kakita, Hitoshi Takahashi, Koichi Wakabayashi
The histopathological hallmark of Parkinson's disease (PD) and dementia with Lewy bodies (DLB) is the occurrence of insoluble fibrillary aggregates known as Lewy bodies, in which phosphorylated α-synuclein (α-syn) is a major component. To date, familial PD-linked gene products, including α-syn, parkin, PINK-1, DJ-1 and LRRK2, are known to be involved in Lewy body formation. Phospholipase A2, group VI (PLA2G6) is the causative gene for PARK14-linked parkinsonism (PARK14), a familial form of juvenile-onset dystonia parkinsonism...
February 14, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28107443/identification-of-the-pla2g6-c-1579g-a-missense-mutation-in-papillon-dog-neuroaxonal-dystrophy-using-whole-exome-sequencing-analysis
#9
Masaya Tsuboi, Manabu Watanabe, Kazumi Nibe, Natsuko Yoshimi, Akihisa Kato, Masahiro Sakaguchi, Osamu Yamato, Miyuu Tanaka, Mitsuru Kuwamura, Kazuya Kushida, Takashi Ishikura, Tomoyuki Harada, James Kenn Chambers, Sumio Sugano, Kazuyuki Uchida, Hiroyuki Nakayama
Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as "spheroids," throughout the nervous system. By sequencing all eleven DNA samples from one NAD-affected Papillon dog and her parents, two unrelated NAD-affected Papillon dogs, and six unaffected control Papillon dogs, we identified 10 candidate mutations...
2017: PloS One
https://www.readbyqxmd.com/read/28091863/fast-progression-of-cerebellar-atrophy-in-pla2g6-associated-infantile-neuronal-axonal-dystrophy
#10
Mario Mascalchi, Francesco Mari, Beatrice Berti, Emanuele Bartolini, Matteo Lenge, Andrea Bianchi, Laura Antonucci, Filippo M Santorelli, Barbara Garavaglia, Renzo Guerrini
Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (t 0) and 36 months (t 1) in patient 1 and at age 22 (t 0) and 31 months (t 1) in patient 2. Data at t 0 were compared to those obtained in 18 control children aged 14-44 months with normal MRI...
January 14, 2017: Cerebellum
https://www.readbyqxmd.com/read/27993549/higher-nevus-count-exhibits-a-distinct-dna-methylation-signature-in-healthy-human-skin-implications-for-melanoma
#11
COMPARATIVE STUDY
Leonie Roos, Johanna K Sandling, Christopher G Bell, Daniel Glass, Massimo Mangino, Tim D Spector, Panos Deloukas, Veronique Bataille, Jordana T Bell
High nevus count is the strongest risk factor for melanoma, and although gene variants have been discovered for both traits, epigenetic variation is unexplored. We investigated 322 healthy human skin DNA methylomes associated with total body nevi count, incorporating genetic and transcriptomic variation. DNA methylation changes were identified at genes involved in melanocyte biology, such as RAF1 (P = 1.2 × 10(-6)) and CTC1 (region: P = 6.3 × 10(-4)), and other genes including ARRDC1 (P = 3.1 × 10(-7))...
April 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27942883/mutation-screening-of-pla2g6-in-japanese-patients-with-early-onset-dystonia-parkinsonism
#12
Chikara Yamashita, Manabu Funayama, Yuanzhe Li, Hiroyo Yoshino, Hitoshi Yamada, Yusuke Seino, Hiroyuki Tomiyama, Nobutaka Hattori
A recessive mutation in PLA2G6, which is known to cause infantile neuroaxonal dystrophy (INAD) and neurodegeneration associated with brain iron accumulation (NBIA), has recently been shown to be responsible for PARK14-linked dystonia-parkinsonism. To study the frequency of PLA2G6 mutations, including those caused by gene rearrangement in patients with parkinsonism, we performed direct sequencing and investigated copy number variations (CNVs) of this gene in 109 Japanese patients with parkinsonism. Direct sequencing revealed a homozygous mutation (c...
December 9, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27884548/infantile-neuroaxonal-dystrophy-and-pla2g6-associated-neurodegeneration-an-update-for-the-diagnosis
#13
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...
February 2017: Brain & Development
https://www.readbyqxmd.com/read/27882168/monozygotic-twins-with-infantile-neuroaxonal-dystrophy-a-case-report-and-literature-review
#14
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
#15
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.
December 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
#16
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...
October 25, 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
#17
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...
October 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
#18
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
#19
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
#20
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...
August 2017: Molecular Neurobiology
keyword
keyword
27847
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"