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[PMID]:28821231
[Au] Autor:Dastsooz H; Nemati H; Fard MAF; Fardaei M; Faghihi MA
[Ad] Endereço:Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
[Ti] Título:Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
[So] Source:BMC Med Genet;18(1):87, 2017 Aug 18.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. The purpose of this study was to investigate disease-causing mutations in two patients with distinct NBIA disorders. CASE PRESENTATION: Whole Exome sequencing using Next Generation Illumina Sequencing was used to enrich all exons of protein-coding genes as well as some other important genomic regions in these two affected patients. A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). The novel mutations were also confirmed by Sanger sequencing in the proband and their parents. CONCLUSIONS: Current study uncovered two rare novel mutations in PANK2 and PLA2G6 genes in patients with NBIA disorder and such studies may help to conduct genetic counseling and prenatal diagnosis more accurately for individuals at the high risk of these types of disorders.
[Mh] Termos MeSH primário: Fosfolipases A2 do Grupo VI/genética
Doenças Neurodegenerativas/genética
Fosfotransferases (Aceptor do Grupo Álcool)/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Encéfalo/diagnóstico por imagem
Criança
Análise Mutacional de DNA
Discinesias/diagnóstico
Discinesias/genética
Distonia/diagnóstico
Distonia/genética
Éxons
Feminino
Mutação da Fase de Leitura
Deleção de Genes
Redes Reguladoras de Genes
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Lactente
Masculino
Debilidade Muscular/diagnóstico
Debilidade Muscular/genética
Doenças Neurodegenerativas/diagnóstico
Polimorfismo Genético
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.33 (pantothenate kinase); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (PLA2G6 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170830
[Lr] Data última revisão:
170830
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170820
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0439-y


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[PMID]:28442572
[Au] Autor:Liu GY; Moon SH; Jenkins CM; Li M; Sims HF; Guan S; Gross RW
[Ad] Endereço:From the Department of Chemistry, Washington University, Saint Louis, Missouri 63130 and.
[Ti] Título:The phospholipase iPLA γ is a major mediator releasing oxidized aliphatic chains from cardiolipin, integrating mitochondrial bioenergetics and signaling.
[So] Source:J Biol Chem;292(25):10672-10684, 2017 Jun 23.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cardiolipin (CL) is a dimeric phospholipid with critical roles in mitochondrial bioenergetics and signaling. Recently, inhibition of the release of oxidized fatty acyl chains from CL by the calcium-independent phospholipase A γ (iPLA γ)-selective inhibitor (R)-BEL suggested that iPLA γ is responsible for the hydrolysis of oxidized CL and subsequent signaling mediated by the released oxidized fatty acids. However, chemical inhibition by BEL is subject to off-target pharmacologic effects. Accordingly, to unambiguously determine the role of iPLA γ in the hydrolysis of oxidized CL, we compared alterations in oxidized CLs and the release of oxidized aliphatic chains from CL in experiments with purified recombinant iPLA γ, germ-line iPLA γ mice, cardiac myocyte-specific iPLA γ transgenic mice, and wild-type mice. Using charge-switch high mass accuracy LC-MS/MS with selected reaction monitoring and product ion accurate masses, we demonstrated that iPLA γ is the major enzyme responsible for the release of oxidized aliphatic chains from CL. Our results also indicated that iPLA γ selectively hydrolyzes 9-hydroxy-octadecenoic acid in comparison to 13-hydroxy-octadecenoic acid from oxidized CLs. Moreover, oxidative stress (ADP, NADPH, and Fe ) resulted in the robust production of oxidized CLs in intact mitochondria from iPLA γ mice. In sharp contrast, oxidized CLs were readily hydrolyzed in mitochondria from wild-type mice during oxidative stress. Finally, we demonstrated that CL activates the iPLA γ-mediated hydrolysis of arachidonic acid from phosphatidylcholine, thereby integrating the production of lipid messengers from different lipid classes in mitochondria. Collectively, these results demonstrate the integrated roles of CL and iPLA γ in lipid second-messenger production and mitochondrial bioenergetics during oxidative stress.
[Mh] Termos MeSH primário: Cardiolipinas/metabolismo
Metabolismo Energético
Fosfolipases A2 do Grupo VI/metabolismo
Mitocôndrias Cardíacas/enzimologia
Estresse Oxidativo
Transdução de Sinais
[Mh] Termos MeSH secundário: Animais
Cardiolipinas/genética
Fosfolipases A2 do Grupo VI/genética
Camundongos
Camundongos Knockout
Mitocôndrias Cardíacas/genética
Oxirredução
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cardiolipins); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (Pla2g6 protein, mouse)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M117.783068


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[PMID]:28213071
[Au] Autor:Miki Y; Tanji K; Mori F; Kakita A; Takahashi H; Wakabayashi K
[Ad] Endereço:Department of Neuropathology, Institute of Brain Science, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan. Electronic address: yasuomiki@hotmail.com.
[Ti] Título:PLA2G6 accumulates in Lewy bodies in PARK14 and idiopathic Parkinson's disease.
[So] Source:Neurosci Lett;645:40-45, 2017 04 03.
[Is] ISSN:1872-7972
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo: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 A , group VI (PLA2G6) is the causative gene for PARK14-linked parkinsonism (PARK14), a familial form of juvenile-onset dystonia parkinsonism. Several lines of evidence have suggested that PLA2G6 might play a role in the pathogenesis of not only PARK14, but also idiopathic PD. However, no published studies have investigated the association of PLA2G6 with the formation of Lewy bodies. In the present study, we used immunohistochemistry and Western blotting to investigate the involvement of PLA2G6 in Lewy body disease (PD and DLB), multiple system atrophy and Alzheimer's disease, in comparison with normal controls. Although cortical Lewy bodies, which lack a definable central core, were unstained with anti-PLA2G6 antibodies, the cores of brainstem-type Lewy bodies from PARK14 and idiopathic PD patients were moderately or intensely immunopositive for PLA2G6. Our results further reinforce the association of PLA2G6 with the pathogenesis of idiopathic PD, in addition to PARK14.
[Mh] Termos MeSH primário: Fosfolipases A2 do Grupo VI/metabolismo
Corpos de Lewy/metabolismo
Doença por Corpos de Lewy/metabolismo
Doença de Parkinson/metabolismo
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Doença de Alzheimer/metabolismo
Doença de Alzheimer/patologia
Estudos de Casos e Controles
Fosfolipases A2 do Grupo VI/genética
Seres Humanos
Doença por Corpos de Lewy/patologia
Meia-Idade
Atrofia de Múltiplos Sistemas/metabolismo
Atrofia de Múltiplos Sistemas/patologia
Doença de Parkinson/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (PLA2G6 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170219
[St] Status:MEDLINE


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[PMID]:28145547
[Au] Autor:Tu SH; Chiou YS; Kalyanam N; Ho CT; Chen LC; Pan MH
[Ad] Endereço:Department of Surgery, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan and Breast Medical Center, Taipei Medical University Hospital, Taipei, Taiwan and Taipei Cancer Center, Taipei Medical University, Taipei, Taiwan.
[Ti] Título:Garcinol sensitizes breast cancer cells to Taxol through the suppression of caspase-3/iPLA and NF-κB/Twist1 signaling pathways in a mouse 4T1 breast tumor model.
[So] Source:Food Funct;8(3):1067-1079, 2017 Mar 22.
[Is] ISSN:2042-650X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Breast cancer is a significant threat to women's health and has high incidence and mortality. Metastasis in breast cancer patients is a major cause of cancer deaths among women worldwide. Clinical experience suggests that patients with metastatic triple-negative breast cancer (TNBC) relapse quickly and often have chemotherapy resistance. Taxol (paclitaxel) is an effective chemotherapeutic agent for treating metastatic breast cancer, but Taxol at high doses can cause adverse effects and recurrent resistance. Thus, the selection of a synergistic combination therapy is recommended, which is safer and has a more significant response rate than monotherapy. In this study, our strategy is to combine a low dose of Taxol (5 mg kg , i.p.) and garcinol (1 mg kg , i.g.) to investigate the synergistic antitumor and anti-metastasis effects and to determine the underlying mechanisms of these effects in vivo. For the in vivo study, metastasis-specific mouse mammary carcinoma 4T1 cells were inoculated in Balb/c mice to establish an orthotopic primary tumor and spontaneous metastasis model. Tumor growth and metastases were monitored. The mechanisms of synergistic efficacies were evaluated at different signaling pathways, including proliferation, survival, and epithelial-mesenchymal transition (EMT)-regulated metastatic propensity. We demonstrated that garcinol combined with Taxol significantly increased the therapeutic efficacy when compared with either treatment alone. The synergistic antitumor and anti-metastasis effects were enhanced primarily through the induction of Taxol-stimulated G2/M phase arrest and the inhibition of caspase-3/cytosolic Ca -independent phospholipase A2 (iPLA ) and nuclear factor-κB (NF-κB)/Twist-related protein 1 (Twist1) drive downstream events including tumor cell repopulation, survival, inflammation, angiogenesis, invasion, and EMT. Our current findings provide the first experimental evidence that a combination of a low dose of Taxol and garcinol is a promising therapeutic strategy for controlling advanced or metastatic breast cancer. Finally, our results also point to the possible role of NF-κB/Twist1 and caspase-3/iPLA signaling pathways as biomarkers to predict the tumor response to treatment.
[Mh] Termos MeSH primário: Antineoplásicos/administração & dosagem
Neoplasias da Mama/tratamento farmacológico
Caspase 3/metabolismo
Fosfolipases A2 do Grupo VI/metabolismo
NF-kappa B/metabolismo
Paclitaxel/administração & dosagem
Terpenos/administração & dosagem
Proteína 1 Relacionada a Twist/metabolismo
[Mh] Termos MeSH secundário: Animais
Neoplasias da Mama/genética
Neoplasias da Mama/metabolismo
Caspase 3/genética
Linhagem Celular Tumoral
Modelos Animais de Doenças
Sinergismo Farmacológico
Feminino
Garcinia
Fosfolipases A2 do Grupo VI/genética
Seres Humanos
Camundongos
Camundongos Endogâmicos BALB C
NF-kappa B/genética
Extratos Vegetais/administração & dosagem
Transdução de Sinais/efeitos dos fármacos
Proteína 1 Relacionada a Twist/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (NF-kappa B); 0 (Plant Extracts); 0 (Terpenes); 0 (Twist-Related Protein 1); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (Pla2g6 protein, mouse); EC 3.4.22.- (Caspase 3); P88XT4IS4D (Paclitaxel); TR1VR1V71B (garcinol)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170202
[St] Status:MEDLINE
[do] DOI:10.1039/c6fo01588c


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[PMID]:28107443
[Au] Autor:Tsuboi M; Watanabe M; Nibe K; Yoshimi N; Kato A; Sakaguchi M; Yamato O; Tanaka M; Kuwamura M; Kushida K; Ishikura T; Harada T; Chambers JK; Sugano S; Uchida K; Nakayama H
[Ad] Endereço:Laboratory of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan.
[Ti] Título:Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.
[So] Source:PLoS One;12(1):e0169002, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. Among them, three candidates were determined to be "deleterious" by in silico pathogenesis evaluation. By subsequent massive screening by TaqMan genotyping analysis, only the PLA2G6 c.1579G>A mutation had an association with the presence or absence of the disease, suggesting that it may be a causal mutation of canine NAD. As a human homologue of this gene is a causative gene for infantile neuroaxonal dystrophy, this canine phenotype may serve as a good animal model for human disease. The results of this study also indicate that WES analysis is a powerful tool for exploring canine hereditary diseases, especially in rare monogenic hereditary diseases.
[Mh] Termos MeSH primário: Doenças do Cão/genética
Exoma
Fosfolipases A2 do Grupo VI/genética
Mutação de Sentido Incorreto
Distrofias Neuroaxonais/veterinária
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Cães
Feminino
Fosfolipases A2 do Grupo VI/química
Imuno-Histoquímica
Masculino
Distrofias Neuroaxonais/genética
Linhagem
RNA Mensageiro/genética
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Homologia de Sequência de Aminoácidos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Messenger); EC 3.1.1.4 (Group VI Phospholipases A2)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170810
[Lr] Data última revisão:
170810
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170121
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0169002


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[PMID]:28063488
[Au] Autor:Barbour SE; Ramanadham S
[Ad] Endereço:University of Georgia at Athens, Athens, GA, United States.
[Ti] Título:Analyses of Calcium-Independent Phospholipase A beta (iPLA ß) in Biological Systems.
[So] Source:Methods Enzymol;583:119-141, 2017.
[Is] ISSN:1557-7988
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Ca -independent phospholipases A (iPLA s) are part of a diverse family of PLA s, manifest activity in the absence of Ca , are ubiquitous, and participate in a variety of biological processes. Among the iPLA s, the cytosolic iPLA ß has received considerable attention and ongoing studies from various laboratories suggest that dysregulation of iPLA ß can have a profound impact on the onset and/or progression of many diseases (e.g., cardiovascular, neurological, metabolic, autoimmune). Therefore, appropriate approaches are warranted to gain a better understanding of the role of iPLA ß in vivo and its contribution to pathophysiology. Given that iPLA ß is very labile, its basal expression is low in a number of cell systems, and that crystal structure of iPLA ß is not yet available, careful and efficient protocols are needed to appropriately assess iPLA ß biochemistry, dynamics, and membrane association. Here, step-by-step details are provided to (a) measure iPLA ß-specific activity in cell lines or tissue preparations (using a simple radiolabel-based assay) and assess the impact of stimuli and inhibitors on resting- and disease-state iPLA ß activity, (b) purify the iPLA ß to near homogeneity (via sequential chromatography) from cell line or tissue preparations, enabling concentration of the enzyme for subsequent analyses (e.g., proteomics), and (c) employ hydrogen/deuterium exchange mass spectrometry analyses to probe both the structure of iPLA ß and dynamics of its association with the membranes, substrates, and inhibitors.
[Mh] Termos MeSH primário: Ensaios Enzimáticos
Fosfolipases A2 do Grupo VI/metabolismo
[Mh] Termos MeSH secundário: Animais
Ácidos Araquidônicos/farmacologia
Química Encefálica
Cálcio/metabolismo
Radioisótopos de Carbono
Linhagem Celular
Medição da Troca de Deutério
Fosfolipases A2 do Grupo VI/antagonistas & inibidores
Fosfolipases A2 do Grupo VI/isolamento & purificação
Seres Humanos
Cetonas/farmacologia
Camundongos
Músculo Esquelético/química
Miocárdio/química
Organofosfonatos/farmacologia
Éteres Fosfolipídicos/metabolismo
Espectrometria de Massas por Ionização por Electrospray
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (1-palmitoyl-2-(5-oxovaleroyl)-sn-glycero-3-phosphorylcholine); 0 (Arachidonic Acids); 0 (Carbon Radioisotopes); 0 (Ketones); 0 (Organophosphonates); 0 (Phospholipid Ethers); 0 (methyl arachidonylfluorophosphonate); 0 (palmitoyl trifluoromethyl ketone); 00XIW1CR0F (arachidonyltrifluoromethane); 6931-56-2 (1-O-hexadecyl-2-arachidonyl-sn-glycero-3-phosphocholine); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (PLA2G6 protein, human); EC 3.1.1.4 (Pla2g6 protein, mouse); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170811
[Lr] Data última revisão:
170811
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170109
[St] Status:MEDLINE


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[PMID]:28055018
[Au] Autor:Chhunchha B; Kubo E; Fatma N; Singh DP
[Ad] Endereço:Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE, USA.
[Ti] Título:Sumoylation-deficient Prdx6 gains protective function by amplifying enzymatic activity and stability and escapes oxidative stress-induced aberrant Sumoylation.
[So] Source:Cell Death Dis;8(1):e2525, 2017 Jan 05.
[Is] ISSN:2041-4889
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Aberrant Sumoylation of protein(s) in response to oxidative stress or during aging is known to be involved in etiopathogenesis of many diseases. Upon oxidative stress, Peroxiredoxin (Prdx) 6 is aberrantly Sumoylated by Sumo1, resulting in loss of functions and cell death. We identified lysines (K) 122 and 142 as the major Sumo1 conjugation sites in Prdx6. Intriguingly, the mutant Prdx6 K122/142 R (arginine) gained protective efficacy, increasing in abundance and promoting glutathione (GSH) peroxidase and acidic calcium-independent phospholipase A (aiPLA ) activities. Using lens epithelial cells derived from targeted inactivation of Prdx6 gene and relative enzymatic and stability assays, we discovered dramatic increases in GSH-peroxidase (30%) and aiPLA (37%) activities and stability in the K122/142 R mutant, suggesting Sumo1 destabilized Prdx6 integrity. Prdx6 LECs with EGFP-Sumo1 transduced or co-expressed with mutant TAT-HA-Prdx6K122/142 R or pGFP-Prdx6K122/142 R were highly resistant to oxidative stress, demonstrating mutant protein escaped and interrupted the Prdx6 aberrant Sumoylation-mediated cell death pathway. Mutational analysis of functional sites showed that both peroxidase and PLA active sites were necessary for mutant Prdx6 function, and that Prdx6 phosphorylation (at T177 residue) was essential for optimum PLA activity. Our work reveals the involvement of oxidative stress-induced aberrant Sumoylation in dysregulation of Prdx6 function. Mutant Prdx6 at its Sumo1 sites escapes and abates this adverse process by maintaining its integrity and gaining function. We propose that the K122/142R mutant of Prdx6 in the form of a TAT-fusion protein may be an easily applicable intervention for pathobiology of cells related to aberrant Sumoylation signaling in aging or oxidative stress.
[Mh] Termos MeSH primário: Envelhecimento/genética
Glutationa Peroxidase/genética
Fosfolipases A2 do Grupo VI/genética
Proteínas Mutantes/genética
Peroxirredoxina VI/genética
Proteína SUMO-1/genética
[Mh] Termos MeSH secundário: Envelhecimento/metabolismo
Envelhecimento/patologia
Animais
Apoptose/genética
Estabilidade Enzimática
Células Epiteliais/metabolismo
Células Epiteliais/patologia
Glutationa Peroxidase/metabolismo
Fosfolipases A2 do Grupo VI/metabolismo
Seres Humanos
Lisina/química
Lisina/genética
Proteínas Mutantes/metabolismo
Estresse Oxidativo/genética
Peroxirredoxina VI/metabolismo
Ligação Proteica
Espécies Reativas de Oxigênio/metabolismo
Proteína SUMO-1/metabolismo
Transdução de Sinais/genética
Sumoilação/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mutant Proteins); 0 (Reactive Oxygen Species); 0 (SUMO-1 Protein); 0 (SUMO1 protein, human); EC 1.11.1.15 (PRDX6 protein, human); EC 1.11.1.15 (Peroxiredoxin VI); EC 1.11.1.9 (Glutathione Peroxidase); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (PLA2G6 protein, human); K3Z4F929H6 (Lysine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170106
[St] Status:MEDLINE
[do] DOI:10.1038/cddis.2016.424


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[PMID]:27884548
[Au] Autor:Iodice A; Spagnoli C; Salerno GG; Frattini D; Bertani G; Bergonzini P; Pisani F; Fusco C
[Ad] Endereço:Child Neurology Unit, Arcispedale Santa Maria Nuova Hospital - IRCCS, Reggio Emilia, Italy. Electronic address: alle.iodice@gmail.com.
[Ti] Título:Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
[So] Source:Brain Dev;39(2):93-100, 2017 Feb.
[Is] ISSN:1872-7131
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo: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. Due to the overlapping phenotypes and heterogeneity of clinical findings characterization of the syndrome is not always achievable. We reviewed the most recent clinical and neuroradiological information in the way to make easier differential diagnosis with other degenerative disorders in the paediatric age. Recognizing subtle signs and symptoms is a fascinating challenge to drive towards better diagnostic and genetic investigations.
[Mh] Termos MeSH primário: Fosfolipases A2 do Grupo VI/genética
Distrofias Neuroaxonais/diagnóstico
Distrofias Neuroaxonais/genética
Doenças Neurodegenerativas/diagnóstico
Doenças Neurodegenerativas/genética
[Mh] Termos MeSH secundário: Adolescente
Encéfalo/diagnóstico por imagem
Encéfalo/fisiopatologia
Criança
Pré-Escolar
Diagnóstico Precoce
Seres Humanos
Lactente
Distrofias Neuroaxonais/fisiopatologia
Doenças Neurodegenerativas/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (PLA2G6 protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170214
[Lr] Data última revisão:
170214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161126
[St] Status:MEDLINE


  9 / 343 MEDLINE  
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[PMID]:27789386
[Au] Autor:Chew WS; Shalini SM; Torta F; Wenk MR; Stohler C; Yeo JF; Herr DR; Ong WY
[Ad] Endereço:Department of Pharmacology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119260, Singapore.
[Ti] Título:Role of prefrontal cortical calcium-independent phospholipase A in antinociceptive effect of the norepinephrine reuptake inhibitor antidepresssant maprotiline.
[So] Source:Neuroscience;340:91-100, 2017 Jan 06.
[Is] ISSN:1873-7544
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The prefrontal cortex is essential for executive functions such as decision-making and planning. There is also accumulating evidence that it is important for the modulation of pain. In this study, we investigated a possible role of prefrontal cortical calcium-independent phospholipase A (iPLA ) in antinociception induced by the norepinephrine reuptake inhibitor (NRI) and tetracyclic (tricyclic) antidepressant, maprotiline. Intraperitoneal injections of maprotiline increased iPLA mRNA and protein expression in the prefrontal cortex. This treatment also reduced grooming responses to von-Frey hair stimulation of the face after facial carrageenan injection, indicating decreased sensitivity to pain. The antinociceptive effect of maprotiline was abrogated by iPLA antisense oligonucleotide injection to the prefrontal cortex, indicating a role of this enzyme in antinociception. In contrast, injection of iPLA antisense oligonucleotide to the somatosensory cortex did not reduce the antinociceptive effect of maprotiline. Lipidomic analysis of the prefrontal cortex showed decrease in phosphatidylcholine species, but increase in lysophosphatidylcholine species, indicating increased PLA2 activity, and release of docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) after maprotiline treatment. Differences in sphingomyelin/ceramide were also detected. These changes were not observed in maprotiline-treated mice that received iPLA antisense oligonucleotide to the prefrontal cortex. Metabolites of DHA and EPA may help to strengthen a known supraspinal antinociceptive pathway from the prefrontal cortex to the periaqueductal gray. Together, results indicate a role of prefrontal cortical iPLA and its enzymatic products in the antinociceptive effect of maprotiline.
[Mh] Termos MeSH primário: Analgésicos/farmacologia
Dor Facial/tratamento farmacológico
Fosfolipases A2 do Grupo VI/metabolismo
Maprotilina/farmacologia
Córtex Pré-Frontal/efeitos dos fármacos
[Mh] Termos MeSH secundário: Inibidores da Captação Adrenérgica/farmacologia
Animais
Antidepressivos de Segunda Geração/farmacologia
Carragenina
Modelos Animais de Doenças
Ácidos Docosa-Hexaenoicos/metabolismo
Ácido Eicosapentaenoico/metabolismo
Dor Facial/imunologia
Fosfolipases A2 do Grupo VI/antagonistas & inibidores
Fosfolipases A2 do Grupo VI/genética
Masculino
Camundongos Endogâmicos C57BL
Limiar da Dor/efeitos dos fármacos
Limiar da Dor/fisiologia
Córtex Pré-Frontal/imunologia
RNA Mensageiro/metabolismo
Córtex Somatossensorial/efeitos dos fármacos
Córtex Somatossensorial/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adrenergic Uptake Inhibitors); 0 (Analgesics); 0 (Antidepressive Agents, Second-Generation); 0 (RNA, Messenger); 25167-62-8 (Docosahexaenoic Acids); 2U1W68TROF (Maprotiline); 9000-07-1 (Carrageenan); AAN7QOV9EA (Eicosapentaenoic Acid); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (Pla2g6 protein, mouse)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161030
[St] Status:MEDLINE


  10 / 343 MEDLINE  
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[PMID]:26965686
[Au] Autor:Cardona F; Perez-Tur J
[Ad] Endereço:Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas (IBV-CSIC). Calle Jaime Roig 11, Valencia E46010, Spain.
[Ti] Título:Other Proteins Involved in Parkinson's Disease and Related Disorders.
[So] Source:Curr Protein Pept Sci;18(7):765-778, 2017.
[Is] ISSN:1875-5550
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo: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). Also the cellular pathways involved in this disease are reviewed, with the goal of having an overview of the effects on the proteins and its possible role in the disease. This knowledge could also serve as the basis for designing tools that may potentially be used as a treatment for the disease, such as inhibitory or activating molecules, as well as other involved in regulating the half-life of the proteins involved.
[Mh] Termos MeSH primário: Mitocôndrias/metabolismo
Mutação
Doença de Parkinson/genética
[Mh] Termos MeSH secundário: Oxirredutases do Álcool/genética
Oxirredutases do Álcool/metabolismo
Transporte Biológico/genética
Proteínas de Transporte/genética
Proteínas de Transporte/metabolismo
Fator de Iniciação 4G em Eucariotos/genética
Fator de Iniciação 4G em Eucariotos/metabolismo
Expressão Gênica
Fosfolipases A2 do Grupo VI/genética
Fosfolipases A2 do Grupo VI/metabolismo
Proteínas de Choque Térmico HSP40/genética
Proteínas de Choque Térmico HSP40/metabolismo
Seres Humanos
Mitocôndrias/patologia
Chaperonas Moleculares/genética
Chaperonas Moleculares/metabolismo
Doença de Parkinson/metabolismo
Doença de Parkinson/patologia
Monoéster Fosfórico Hidrolases/genética
Monoéster Fosfórico Hidrolases/metabolismo
Transmissão Sináptica/genética
Proteínas tau/genética
Proteínas tau/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (DNAJC13 protein, human); 0 (DNAJC6 protein, human); 0 (EIF4G1 protein, human); 0 (Eukaryotic Initiation Factor-4G); 0 (GIGYF2 protein, human); 0 (HSP40 Heat-Shock Proteins); 0 (MAPT protein, human); 0 (Molecular Chaperones); 0 (tau Proteins); EC 1.1.- (Alcohol Oxidoreductases); EC 1.1.1.153 (sepiapterin reductase); EC 3.1.1.4 (Group VI Phospholipases A2); EC 3.1.1.4 (PLA2G6 protein, human); EC 3.1.3.2 (Phosphoric Monoester Hydrolases); EC 3.1.3.36 (phosphoinositide 5-phosphatase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160312
[St] Status:MEDLINE
[do] DOI:10.2174/1389203717666160311122152



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