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Acta Neuropathologica

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https://www.readbyqxmd.com/read/29052003/accumulation-of-dysfunctional-sod1-protein-in-parkinson-s-disease-is-not-associated-with-mutations-in-the-sod1-gene
#1
LETTER
Benjamin G Trist, Jennifer A Fifita, Sarah E Freckleton, Dominic J Hare, Simon J G Lewis, Glenda M Halliday, Ian P Blair, Kay L Double
No abstract text is available yet for this article.
October 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29052002/molecular-and-clinical-heterogeneity-of-adult-diffuse-low-grade-idh-wild-type-gliomas-assessment-of-tert-promoter-mutation-and-chromosome-7-and-10-copy-number-status-allows-superior-prognostic-stratification
#2
LETTER
Maarten M J Wijnenga, Hendrikus J Dubbink, Pim J French, Nathalie E Synhaeve, Winand N M Dinjens, Peggy N Atmodimedjo, Johan M Kros, Clemens M F Dirven, Arnaud J P E Vincent, Martin J van den Bent
No abstract text is available yet for this article.
October 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29039141/does-parkinson-s-disease-start-in-the-gut
#3
REVIEW
Arthur Lionnet, Laurène Leclair-Visonneau, Michel Neunlist, Shigeo Murayama, Masaki Takao, Charles H Adler, Pascal Derkinderen, Thomas G Beach
Parkinson's disease (PD) is pathologically characterized by the presence of intraneuronal inclusions, termed Lewy bodies and Lewy neurites, whose main component is alpha-synuclein. Based on the topographic distribution of Lewy bodies and neurites established after autopsy from PD patients, Braak and coworkers hypothesized that PD pathology may start in the gastrointestinal tract then spread through the vagus nerve to the brain. This hypothesis has been reinforced by the discovery that alpha-synuclein may be capable of spreading transcellularly, thereby providing a mechanistic basis for Braak's hypothesis...
October 16, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29039140/casq1-mutations-impair-calsequestrin-polymerization-and-cause-tubular-aggregate-myopathy
#4
LETTER
Johann Böhm, Xavière Lornage, Frederic Chevessier, Catherine Birck, Simona Zanotti, Paola Cudia, Monica Bulla, Florence Granger, Mai Thao Bui, Maxime Sartori, Christiane Schneider-Gold, Edoardo Malfatti, Norma B Romero, Marina Mora, Jocelyn Laporte
No abstract text is available yet for this article.
October 16, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29030706/rare-adar-and-rnaseh2b-variants-and-a-type-i-interferon-signature-in-glioma-and-prostate-carcinoma-risk-and-tumorigenesis
#5
Ulrike Beyer, Frank Brand, Helge Martens, Julia Weder, Arne Christians, Natalie Elyan, Bettina Hentschel, Manfred Westphal, Gabriele Schackert, Torsten Pietsch, Bujung Hong, Joachim K Krauss, Amir Samii, Peter Raab, Anibh Das, Claudia A Dumitru, I Erol Sandalcioglu, Oliver W Hakenberg, Andreas Erbersdobler, Ulrich Lehmann, Guido Reifenberger, Michael Weller, Martin A M Reijns, Matthias Preller, Bettina Wiese, Christian Hartmann, Ruthild G Weber
In search of novel germline alterations predisposing to tumors, in particular to gliomas, we studied a family with two brothers affected by anaplastic gliomas, and their father and paternal great-uncle diagnosed with prostate carcinoma. In this family, whole-exome sequencing yielded rare, simultaneously heterozygous variants in the Aicardi-Goutières syndrome (AGS) genes ADAR and RNASEH2B co-segregating with the tumor phenotype. AGS is a genetically induced inflammatory disease particularly of the brain, which has not been associated with a consistently increased cancer risk to date...
October 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29027579/dna-methylation-profiling-discloses-significant-advantages-over-nanostring-method-for-molecular-classification-of-medulloblastoma
#6
LETTER
Andrey Korshunov, Lukas Chavez, Paul A Northcott, Tanvi Sharma, Marina Ryzhova, David T W Jones, Andreas von Deimling, Stefan M Pfister, Marcel Kool
No abstract text is available yet for this article.
October 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28861715/the-neuroprotective-transcription-factor-atf5-is-decreased-and-sequestered-into-polyglutamine-inclusions-in-huntington-s-disease
#7
Ivó H Hernández, Jesús Torres-Peraza, María Santos-Galindo, Eloísa Ramos-Morón, M Rosario Fernández-Fernández, María J Pérez-Álvarez, Antonio Miranda-Vizuete, José J Lucas
Activating transcription factor-5 (ATF5) is a stress-response transcription factor induced upon different cell stressors like fasting, amino-acid limitation, cadmium or arsenite. ATF5 is also induced, and promotes transcription of anti-apoptotic target genes like MCL1, during the unfolded protein response (UPR) triggered by endoplasmic reticulum stress. In the brain, high ATF5 levels are found in gliomas and also in neural progenitor cells, which need to decrease their ATF5 levels for differentiation into mature neurons or glia...
August 31, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28852847/distinct-molecular-profile-of-diffuse-cerebellar-gliomas
#8
Masashi Nomura, Akitake Mukasa, Genta Nagae, Shogo Yamamoto, Kenji Tatsuno, Hiroki Ueda, Shiro Fukuda, Takayoshi Umeda, Tomonari Suzuki, Ryohei Otani, Keiichi Kobayashi, Takashi Maruyama, Shota Tanaka, Shunsaku Takayanagi, Takahide Nejo, Satoshi Takahashi, Koichi Ichimura, Taishi Nakamura, Yoshihiro Muragaki, Yoshitaka Narita, Motoo Nagane, Keisuke Ueki, Ryo Nishikawa, Junji Shibahara, Hiroyuki Aburatani, Nobuhito Saito
Recent studies have demonstrated that tumor-driving alterations are often different among gliomas that originated from different brain regions and have underscored the importance of analyzing molecular characteristics of gliomas stratified by brain region. Therefore, to elucidate molecular characteristics of diffuse cerebellar gliomas (DCGs), 27 adult, mostly glioblastoma cases were analyzed. Comprehensive analysis using whole-exome sequencing, RNA sequencing, and Infinium methylation array (n = 17) demonstrated their distinct molecular profile compared to gliomas in other brain regions...
August 29, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28849371/msa-prions-exhibit-remarkable-stability-and-resistance-to-inactivation
#9
Amanda L Woerman, Sabeen A Kazmi, Smita Patel, Yevgeniy Freyman, Abby Oehler, Atsushi Aoyagi, Daniel A Mordes, Glenda M Halliday, Lefkos T Middleton, Steve M Gentleman, Steven H Olson, Stanley B Prusiner
In multiple system atrophy (MSA), progressive neurodegeneration results from the protein α-synuclein misfolding into a self-templating prion conformation that spreads throughout the brain. MSA prions are transmissible to transgenic (Tg) mice expressing mutated human α-synuclein (TgM83(+/-)), inducing neurological disease following intracranial inoculation with brain homogenate from deceased patient samples. Noting the similarities between α-synuclein prions and PrP scrapie (PrP(Sc)) prions responsible for Creutzfeldt-Jakob disease (CJD), we investigated MSA transmission under conditions known to result in PrP(Sc) transmission...
August 28, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28823042/a-specific-antibody-to-detect-transcription-factor-t-pit-a-reliable-marker-of-corticotroph-cell-differentiation-and-a-tool-to-improve-the-classification-of-pituitary-neuroendocrine-tumours
#10
LETTER
Evelina Sjöstedt, Jens Bollerslev, Jan Mulder, Cecilia Lindskog, Fredrik Pontén, Olivera Casar-Borota
No abstract text is available yet for this article.
August 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28821944/the-2017-world-health-organization-classification-of-tumors-of-the-pituitary-gland-a-summary
#11
REVIEW
M Beatriz S Lopes
The 4th edition of the World Health Organization (WHO) classification of endocrine tumors has been recently released. In this new edition, major changes are recommended in several areas of the classification of tumors of the anterior pituitary gland (adenophypophysis). The scope of the present manuscript is to summarize these recommended changes, emphasizing a few significant topics. These changes include the following: (1) a novel approach for classifying pituitary neuroendocrine tumors according to pituitary adenohypophyseal cell lineages; (2) changes to the histological grading of pituitary neuroendocrine tumors with the elimination of the term "atypical adenoma;" and (3) introduction of new entities like the pituitary blastoma and re-definition of old entities like the null-cell adenoma...
August 18, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28803412/alpha-synuclein-oligomers-a-new-hope
#12
REVIEW
Nora Bengoa-Vergniory, Rosalind F Roberts, Richard Wade-Martins, Javier Alegre-Abarrategui
Alpha-synuclein is a protein implicated in Parkinson's disease and thought to be one of the main pathological drivers in the disease, although it remains unclear how this protein elicits its neurotoxic effects. Recent findings indicate that the assembly of toxic oligomeric species of alpha-synuclein may be one of the key processes for the pathology and spread of the disease. The absence of a sensitive in situ detection method has hindered the study of these oligomeric species and the role they play in the human brain until recently...
August 12, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28803398/brainstem-angiocentric-gliomas-with-myb-qki-rearrangements
#13
LETTER
Laura D'Aronco, Cécile Rouleau, Tenzin Gayden, Louis Crevier, Jean-Claude Décarie, Sébastien Perreault, Nada Jabado, Pratiti Bandopadhayay, Keith L Ligon, Benjamin Ellezam
No abstract text is available yet for this article.
August 12, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28801693/grading-of-diffuse-astrocytic-gliomas-broders-kernohan-z%C3%A3-lch-the-who%C3%A2-and-shakespeare
#14
David N Louis, Andreas von Deimling
No abstract text is available yet for this article.
August 11, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28780615/a-knock-in-knock-out-mouse-model-of-hspb8-associated-distal-hereditary-motor-neuropathy-and-myopathy-reveals-toxic-gain-of-function-of-mutant-hspb8
#15
Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied, Steven Goossens, Jody J Haigh, Claude Libert, Chantal Ceuterick-de Groote, Joy Irobi, Joachim Weis, Vincent Timmerman
Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot-Marie-Tooth disease, and recently distal myopathy. It is so far not clear how mutant HSPB8 induces the neuronal and muscular phenotypes and if a common pathogenesis lies behind these diseases. Growing evidence points towards a role of HSPB8 in chaperone-associated autophagy, which has been shown to be a determinant for the clearance of poly-glutamine aggregates in neurodegenerative diseases but also for the maintenance of skeletal muscle myofibrils...
August 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28776091/angiocentric-glioma-with-myb-qki-fusion-located-in-the-brainstem-rather-than-cerebral-cortex
#16
LETTER
Emily Chan, Andrew W Bollen, Deepika Sirohi, Jessica Van Ziffle, James P Grenert, Cassie N Kline, Tarik Tihan, Arie Perry, Nalin Gupta, David A Solomon
No abstract text is available yet for this article.
August 3, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28766011/rnai-screen-identifies-essential-regulators-of-human-brain-metastasis-initiating-cells
#17
Mohini Singh, Chitra Venugopal, Tomas Tokar, Kevin R Brown, Nicole McFarlane, David Bakhshinyan, Thusyanth Vijayakumar, Branavan Manoranjan, Sujeivan Mahendram, Parvez Vora, Maleeha Qazi, Manvir Dhillon, Amy Tong, Kathrin Durrer, Naresh Murty, Robin Hallet, John A Hassell, David R Kaplan, Jean-Claude Cutz, Igor Jurisica, Jason Moffat, Sheila K Singh
Brain metastases (BM) are the most common brain tumor in adults and are a leading cause of cancer mortality. Metastatic lesions contain subclones derived from their primary lesion, yet their functional characterization is limited by a paucity of preclinical models accurately recapitulating the metastatic cascade, emphasizing the need for a novel approach to BM and their treatment. We identified a unique subset of stem-like cells from primary human patient brain metastases, termed brain metastasis-initiating cells (BMICs)...
August 1, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28762187/the-choroid-plexus-is-a-key-cerebral-invasion-route-for-t-cells-after-stroke
#18
Gemma Llovera, Corinne Benakis, Gaby Enzmann, Ruiyao Cai, Thomas Arzberger, Alireza Ghasemigharagoz, Xiang Mao, Rainer Malik, Ivana Lazarevic, Sabine Liebscher, Ali Ertürk, Lilja Meissner, Denis Vivien, Christof Haffner, Nikolaus Plesnila, Joan Montaner, Britta Engelhardt, Arthur Liesz
Neuroinflammation contributes substantially to stroke pathophysiology. Cerebral invasion of peripheral leukocytes-particularly T cells-has been shown to be a key event promoting inflammatory tissue damage after stroke. While previous research has focused on the vascular invasion of T cells into the ischemic brain, the choroid plexus (ChP) as an alternative cerebral T-cell invasion route after stroke has not been investigated. We here report specific accumulation of T cells in the peri-infarct cortex and detection of T cells as the predominant population in the ipsilateral ChP in mice as well as in human post-stroke autopsy samples...
July 31, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28756524/muscle-satellite-cells-are-functionally-impaired-in-myasthenia-gravis-consequences-on-muscle-regeneration
#19
Mohamed Attia, Marie Maurer, Marieke Robinet, Fabien Le Grand, Elie Fadel, Rozen Le Panse, Gillian Butler-Browne, Sonia Berrih-Aknin
Myasthenia gravis (MG) is a neuromuscular disease caused in most cases by anti-acetyl-choline receptor (AChR) autoantibodies that impair neuromuscular signal transmission and affect skeletal muscle homeostasis. Myogenesis is carried out by muscle stem cells called satellite cells (SCs). However, myogenesis in MG had never been explored. The aim of this study was to characterise the functional properties of myasthenic SCs as well as their abilities in muscle regeneration. SCs were isolated from muscle biopsies of MG patients and age-matched controls...
July 29, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28755208/persistent-microglial-activation-and-synaptic-loss-with-behavioral-abnormalities-in-mouse-offspring-exposed-to-caspr2-antibodies-in-utero
#20
Ester Coutinho, David A Menassa, Leslie Jacobson, Steven J West, Joana Domingos, Teresa C Moloney, Bethan Lang, Paul J Harrison, David L H Bennett, David Bannerman, Angela Vincent
Gestational transfer of maternal antibodies against fetal neuronal proteins may be relevant to some neurodevelopmental disorders, but until recently there were no proteins identified. We recently reported a fivefold increase in CASPR2-antibodies in mid-gestation sera from mothers of children with intellectual and motor disabilities. Here, we exposed mice in utero to purified IgG from patients with CASPR2-antibodies (CASPR2-IgGs) or from healthy controls (HC-IgGs). CASPR2-IgG but not HC-IgG bound to fetal brain parenchyma, from which CASPR2-antibodies could be eluted...
July 28, 2017: Acta Neuropathologica
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