Database : MEDLINE
Search on : lissencephaly [Words]
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[PMID]: 29470990
[Au] Autor:Jheng GW; Hur SS; Chang CM; Wu CC; Cheng JS; Lee HH; Chung BC; Wang YK; Lin KH; Del Álamo JC; Chien S; Tsai JW
[Ad] Address:Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei 112, Taiwan, ROC.
[Ti] Title:Lis1 dysfunction leads to traction force reduction and cytoskeletal disorganization during cell migration.
[So] Source:Biochem Biophys Res Commun;497(3):869-875, 2018 Mar 11.
[Is] ISSN:1090-2104
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cell migration is a critical process during development, tissue repair, and cancer metastasis. It requires complex processes of cell adhesion, cytoskeletal dynamics, and force generation. Lis1 plays an important role in the migration of neurons, fibroblasts and other cell types, and is essential for normal development of the cerebral cortex. Mutations in human LIS1 gene cause classical lissencephaly (smooth brain), resulting from defects in neuronal migration. However, how Lis1 may affect force generation in migrating cells is still not fully understood. Using traction force microscopy (TFM) with live cell imaging to measure cellular traction force in migrating NIH3T3 cells, we showed that Lis1 knockdown (KD) by RNA interference (RNAi) caused reductions in cell migration and traction force against the extracellular matrix (ECM). Immunostaining of cytoskeletal components in Lis1 KD cells showed disorganization of microtubules and actin filaments. Interestingly, focal adhesions at the cell periphery were significantly reduced. These results suggest that Lis1 is important for cellular traction force generation through the regulation of cytoskeleton organization and focal adhesion formation in migrating cells.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review

  2 / 1366 MEDLINE  
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[PMID]: 29475944
[Au] Autor:Li X; Liu L; Li R; Wu A; Lu J; Wu Q; Jia J; Zhao M; Song H
[Ad] Address:Life Sciences Institute, Zhejiang University, China.
[Ti] Title:Hepatic loss of induces fatty liver and accelerates liver tumorigenesis in mice.
[So] Source:J Biol Chem;, 2018 Feb 23.
[Is] ISSN:1083-351X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The liver is a major organ in lipid metabolism and its malfunction leads to various diseases. Nonalcoholic fatty liver disease, the most common chronic liver disorder in developed countries is characterized by the abnormal retention of excess lipid within hepatocytes and predisposes individuals to liver cancer. We previously reported that the levels of Lissencephaly 1 (LIS1, also known as Pafah1b1) are down-regulated in human hepatocellular carcinoma. Following up on this observation, we found that genetic deletion of Lis1 in the mouse liver increases lipid accumulation and inflammation in this organ. Further analysis revealed that loss of triggers endoplasmic reticulum (ER) stress and reduces triglyceride secretion. Attenuation of ER stress by addition of tauroursodeoxycholic acid (TUDCA) diminished lipid accumulation in the -deficient hepatocytes. Moreover, the Golgi stacks were disorganized in -deficient liver cells. Of note, the Lis1 liver-knockout mice exhibited increased hepatocyte ploidy and accelerated development of liver cancer after exposure to the liver carcinogen diethylnitrosamine (DEN). Taken together, these findings suggest that reduced levels can spur the development of liver diseases from steatosis to liver cancer and provide a useful model for delineating the molecular pathways that lead to these diseases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180224
[Lr] Last revision date:180224
[St] Status:Publisher

  3 / 1366 MEDLINE  
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[PMID]: 29346650
[Au] Autor:Chimelli L; Moura Pone S; Avvad-Portari E; Farias Meira Vasconcelos Z; Araújo Zin A; Prado Cunha D; Raposo Thompson N; Lopes Moreira ME; Wiley CA; da Silva Pone MV
[Ad] Address:Laboratory of Neuropathology, State Institute of Brain and UFRJ.
[Ti] Title:Persistence of Zika Virus After Birth: Clinical, Virological, Neuroimaging, and Neuropathological Documentation in a 5-Month Infant With Congenital Zika Syndrome.
[So] Source:J Neuropathol Exp Neurol;77(3):193-198, 2018 Mar 01.
[Is] ISSN:1554-6578
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia. Bacterial sepsis at 2 months was treated. A sudden increase in head circumference occurred at 4 months necessitating ventricle-peritoneal shunt placement. At 5 months, the infant died with sepsis due to bacterial meningitis. Neuropathological findings were as severe as some of those found in neonates who died soon after birth, including hydrocephalus, destructive lesions/calcification, gliosis, abnormal neuronal migration, dysmaturation of nerve cells, hypomyelination, loss of descending axons, and spinal motor neurons. ZIKV RNA was detected only in frozen brain tissue using RT-qPCR, but infected cells were not detected by in situ hybridization. Progressive gliosis and microgliosis in the midbrain may have contributed to aqueduct compression and subsequent hydrocephalus. The etiology of progressive disease after in utero infection is not clear and requires investigation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[St] Status:In-Data-Review
[do] DOI:10.1093/jnen/nlx116

  4 / 1366 MEDLINE  
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[PMID]: 29442325
[Au] Autor:Aruga J
[Ad] Address:Department of Medical Pharmacology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. aruga@nagasaki-u.ac.jp.
[Ti] Title:Zic Family Proteins in Emerging Biomedical Studies.
[So] Source:Adv Exp Med Biol;1046:233-248, 2018.
[Is] ISSN:0065-2598
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Zic family proteins have been investigated in various biomedical studies. Here we summarize the contact points between Zic proteins and recent medical research. The topics cover a wide range, reflecting the pleiotropic roles of these proteins in early embryogenesis and organogenesis. Zic1, Zic2, and Zic3 proteins play important roles in the development of axial and limb bones, and of muscles, among the derivatives of the notochord and somites. Zic1 is involved in bone's response to mechanical stress, and it also serves as a marker specific for brown adipocytes. Zic1, Zic2, Zic3, and Zic5 proteins are required for the development of neural crest derivatives, including the meningeal membrane and facial bones, and deficiency of these proteins causes cortical lamination defects resembling those in type II lissencephaly. In vascular systems, Zic3 is associated not only with normal cardiovascular development, failure of which causes congenital heart anomalies, but also controls maturation of the blood-brain barrier. Zic1 is also expressed in the brain pericytes possessing stem cell properties that control the blood-brain barrier activity and capillary hemodynamic responses. The possible involvement of Zic proteins in neuropsychiatric disorders has been indicated by the analyses of mutant mice behaviors. Zic1 and Zic3 mutant mice show hypotonia and decreased locomotor activities. Zic2 hypomorphic mutant mice exhibit schizophrenia-related behavioral abnormalities such as cognitive dysfunction and impaired sensorimotor gating and social behaviors, and ZIC2 mutations found in schizophrenia patients included a severely functionally defective one. Based on these facts, the application of Zic protein activities in translational medicine might be considered.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[St] Status:In-Data-Review
[do] DOI:10.1007/978-981-10-7311-3_12

  5 / 1366 MEDLINE  
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[PMID]: 29426806
[Au] Autor:Cornet MC; Sands TT; Cilio MR
[Ad] Address:Department of Pediatrics, University of California, San Francisco, CA, USA.
[Ti] Title:Neonatal epilepsies: Clinical management.
[So] Source:Semin Fetal Neonatal Med;, 2018 Jan 31.
[Is] ISSN:1878-0946
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). Historically, studies on treatment response and long-term consequences of neonatal seizures have lumped all etiologies together. However, etiology has been consistently shown to be the most important determinant of outcome. Here, we address the elements differentiating neonatal-onset epilepsies from acute symptomatic seizures. We review some common neonatal-onset epilepsies and emphasize how pathognomonic electro-clinical phenotypes such as the ones associated with KCNQ2 or KCNT1 gene mutation, when recognized early, can lead to targeted diagnostic testing and precision medicine treatment, enabling the possibility of improved outcome.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180210
[Lr] Last revision date:180210
[St] Status:Publisher

  6 / 1366 MEDLINE  
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[PMID]: 29404402
[Au] Autor:Hines TJ; Gao X; Sahu S; Lange MM; Turner JR; Twiss JL; Smith DS
[Ad] Address:Department of Biological Sciences, University of South Carolina, Columbia, SC 29208.
[Ti] Title:An Essential Postdevelopmental Role for Lis1 in Mice.
[So] Source:eNeuro;5(1), 2018 Jan-Feb.
[Is] ISSN:2373-2822
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:mutations cause lissencephaly (LIS), a severe developmental brain malformation. Much less is known about its role in the mature nervous system. LIS1 regulates the microtubule motor cytoplasmic dynein 1 (dynein), and as LIS1 and dynein are both expressed in the adult nervous system, Lis1 could potentially regulate dynein-dependent processes such as axonal transport. We therefore knocked out Lis1 in adult mice using tamoxifen-induced, Cre-ER-mediated recombination. When an actin promoter was used to drive Cre-ER expression (Act-Cre-ER), heterozygous Lis1 knockout (KO) caused no obvious change in viability or behavior, despite evidence of widespread recombination by a Cre reporter three weeks after tamoxifen exposure. In contrast, homozygous Lis1 KO caused the rapid onset of neurological symptoms in both male and female mice. One tamoxifen-dosing regimen caused prominent recombination in the midbrain/hindbrain, PNS, and cardiac/skeletal muscle within a week; these mice developed severe symptoms in that time frame and were killed. A different tamoxifen regimen resulted in delayed recombination in midbrain/hindbrain, but not in other tissues, and also delayed the onset of symptoms. This indicates that Lis1 loss in the midbrain/hindbrain causes the severe phenotype. In support of this, brainstem regions known to house cardiorespiratory centers showed signs of axonal dysfunction in KO animals. Transport defects, neurofilament (NF) alterations, and varicosities were observed in axons in cultured DRG neurons from KO animals. Because no symptoms were observed when a cardiac specific Cre-ER promoter was used, we propose a vital role for Lis1 in autonomic neurons and implicate defective axonal transport in the KO phenotype.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review

  7 / 1366 MEDLINE  
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[PMID]: 29412347
[Au] Autor:Ribeiro IG; Andrade MR; Silva JM; Silva ZM; Costa MAO; Vieira MADCES; Batista FMA; Guimarães H; Wada MY; Saad E
[Ad] Address:Ministério da Saúde, Secretaria de Vigilância em Saúde, Brasília, DF, Brasil.
[Ti] Title:Microcefalia no Piauí, Brasil: estudo descritivo durante a epidemia do vírus Zika, 2015-2016. Microcephaly in Piauí, Brazil: descriptive study during the Zika virus epidemic, 2015-2016.
[So] Source:Epidemiol Serv Saude;27(1):e20163692, 2018 Feb 01.
[Is] ISSN:2237-9622
[Cp] Country of publication:Brazil
[La] Language:por; eng
[Ab] Abstract:OBJECTIVE: to describe the occurrence and characteristics of microcephaly cases in Piauí, Brazil, during an epidemic of Zika virus infection in 2015-2016. METHODS: descriptive study using data of live births from January/2015 to January/2016, obtained from the Information System on Live Births (Sinasc), the Public Health Events Registry (RESP) and the active search for medical records; mothers and live births were tested for dengue, chikungunya, and Zika, besides syphilis, toxoplasmosis, rubella, cytomegalovirus, and herpes (STORCH). RESULTS: of the 75 microcephaly cases, 34 were related to congenital infectious process; microcephaly prevalence was of 13.6/10 thousand live births; imaging exams confirmed that 34 live births presented calcifications, 23 had cerebral atrophies, 14 had lissencephaly, 12 had ventriculomegaly and 6 had dysgenesis; none tested positive for STORCH, dengue or chikungunya; 1 was IgM positive for Zika. CONCLUSION: there was an outbreak of microcephaly in Piauí, possibly related to infection during pregnancy Zika virus.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:In-Data-Review

  8 / 1366 MEDLINE  
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[PMID]: 29394359
[Au] Autor:Kanagawa M; Toda T
[Ad] Address:Division of Molecular Brain Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
[Ti] Title:Ribitol-phosphate-a newly identified posttranslational glycosylation unit in mammals: structure, modification enzymes, and relationship to human diseases.
[So] Source:J Biochem;, 2018 Jan 31.
[Is] ISSN:1756-2651
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Glycosylation is a crucial posttranslational modification that is involved in numerous biological events. Therefore, abnormal glycosylation can impair the functions of glycoproteins or glycolipids and is occasionally associated with cell dysfunction and human diseases. For example, aberrant glycosylation of dystroglycan, a cellular receptor for matrix and synaptic proteins, is associated with muscular dystrophy and lissencephaly. Dystroglycan sugar chains are required for high-affinity binding to ligand proteins, and thus disruption of dystroglycan-ligand linkages underlies disease conditions. Although their biological significance is well recognized, the sugar-chain structure of dystroglycan and its modification enzymes have long remained incompletely elucidated. However, recent seminal studies have finally revealed a highly regulated mechanism for dystroglycan glycosylation and have discovered a posttranslational unit, ribitol-phosphate, that was not previously known to be used in mammals. This review article introduces the structure, modification enzymes, and functions of the sugar chains of dystroglycan, and then discusses their relationship to human diseases and therapeutic strategies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180202
[Lr] Last revision date:180202
[St] Status:Publisher
[do] DOI:10.1093/jb/mvy020

  9 / 1366 MEDLINE  
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[PMID]: 29380551
[Au] Autor:Kask K; Tikker L; Ruisu K; Lulla S; Oja EM; Meier R; Raid R; Velling T; Tõnissoo T; Pooga M
[Ad] Address:Institute of Molecular and Cell Biology, University of Tartu, 23 Riia St, Tartu, 51010, Estonia.
[Ti] Title:Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles.
[So] Source:Dev Neurobiol;, 2018 Jan 30.
[Is] ISSN:1932-846X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Autosomal recessive disorders such as Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and the muscle-eye-brain disease are characterized by defects in the development of patient's brain, eyes, and skeletal muscles. These syndromes are accompanied by brain malformations like type II lissencephaly in the cerebral cortex with characteristic overmigrations of neurons through the breaches of the pial basement membrane. The signaling pathways activated by laminin receptors, dystroglycan and integrins, control the integrity of the basement membrane, and their malfunctioning may underlie the pathologies found in the rise of defects reminiscent of these syndromes. Similar defects in corticogenesis and neuromuscular disorders were found in mice when RIC8A was specifically removed from neural precursor cells. RIC8A regulates a subset of G-protein α subunits and in several model organisms, it has been reported to participate in the control of cell division, signaling, and migration. Here, we studied the role of RIC8A in the development of the brain, muscles, and eyes of the neural precursor-specific conditional Ric8a knockout mice. The absence of RIC8A severely affected the attachment and positioning of radial glial processes, Cajal-Retzius' cells, and the arachnoid trabeculae, and these mice displayed additional defects in the lens, skeletal muscles, and heart development. All the discovered defects might be linked to aberrancies in cell adhesion and migration, suggesting that RIC8A has a crucial role in the regulation of cell-extracellular matrix interactions and that its removal leads to the phenotype characteristic to type II lissencephaly-associated diseases. © 2018 Wiley Periodicals, Inc. Develop Neurobiol, 2018.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180203
[Lr] Last revision date:180203
[St] Status:Publisher
[do] DOI:10.1002/dneu.22578

  10 / 1366 MEDLINE  
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[PMID]: 29338612
[Au] Autor:Mufson EJ; He B; Ginsberg SD; Carper BA; Bieler GS; Crawford FC; Alverez VE; Huber BR; Stein TD; McKee AC; Perez SE
[Ad] Address:Barrow Neurological Institute, 115467, Neurobiology , 350 WEST THOMAS , PHX , PHX, Arizona, United States , 85133.
[Ti] Title:Gene Profiling of Nucleus Basalis Tau Containing Neurons in Chronic Traumatic Encephalopathy: A Chronic Effects of Neurotrauma Consortium Study.
[So] Source:J Neurotrauma;, 2018 Jan 16.
[Is] ISSN:1557-9042
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Military personnel and athletes exposed to traumatic brain injury may develop chronic traumatic encephalopathy (CTE). Brain pathology in CTE includes intracellular accumulation of abnormally phosphorylated tau proteins (p-tau), the main constituent of neurofibrillary tangles (NFTs). Recently, we found that cholinergic basal forebrain (CBF) neurons within the nucleus basalis of Meynert (nbM), which provide the major cholinergic innervation to the cortex, display an increasing number of NFTs across the pathological stages of CTE.1 However, molecular mechanisms underlying nbM neurodegeneration post CTE remain unknown. Here, we assessed the genetic signature of nbM neurons containing the p-tau pretangle maker pS422 obtained from CTE subjects who came to autopsy and received a neuropathological CTE staging assessment (Stages II, III, and IV) using laser capture microdissection and custom-designed microarray analysis. Quantitative analysis revealed dysregulation of key genes in several gene ontology groups between CTE stages. Specifically, downregulation of the nicotinic cholinergic receptor subunit beta-2 gene (Chrnb2), monoaminergic enzymes catechol-O-methyltransferase (Comt) and dopa decarboxylase (Ddc), chloride channels Clcn4 and Clcn5, scaffolding protein caveolin 1 (Cav1), cortical development/cytoskeleton element lissencephaly 1 (Lis1) and intracellular signaling cascade member adenylate cyclase 3 (Adcy3) was observed in pS422-immunreactive nbM neurons in CTE patients. By contrast, upregulation of calpain 2 (Capn2) and microtubule-associated protein 2 (Map2) transcript levels was found in stage IV CTE patients. These single-population data in vulnerable neurons indicates alterations in gene expression associated with neurotransmission, signal transduction, the cytoskeleton, cell survival/death signaling, and microtubule dynamics suggesting novel molecular pathways to target for drug discovery in CTE.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180203
[Lr] Last revision date:180203
[St] Status:Publisher
[do] DOI:10.1089/neu.2017.5368


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