Articles

A metastable subproteome underlies inclusion formation in muscle proteinopathies

Protein aggregation is a pathological feature of neurodegenerative disorders. We previously demonstrated that protein inclusions in the brain are composed of supersaturated proteins, which are abundant and agg...

Authors: Prajwal Ciryam, Matthew Antalek, Fernando Cid, Gian Gaetano Tartaglia, Christopher M. Dobson, Anne-Katrin Guettsches, Britta Eggers, Matthias Vorgerd, Katrin Marcus, Rudolf A. Kley, Richard I. Morimoto, Michele Vendruscolo and Conrad C. Weihl

KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients

Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MECP2) gene. Deficient K⁺-Cl^—co-transporter 2 (KCC2) expression is suggested to play a key role in the...

Authors: Lisa Hinz, Joan Torrella Barrufet and Vivi M. Heine

Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer’s disease and not in other tauopathies

We recently identified Secernin-1 (SCRN1) as a novel amyloid plaque associated protein using localized proteomics. Immunohistochemistry studies confirmed that SCRN1 was present in plaque-associated dystrophic ...

Authors: Geoffrey Pires, Sacha McElligott, Shiron Drusinsky, Glenda Halliday, Marie-Claude Potier, Thomas Wisniewski and Eleanor Drummond

The amyloid-β degradation intermediate Aβ34 is pericyte-associated and reduced in brain capillaries of patients with Alzheimer’s disease

An impairment of amyloid β-peptide (Aβ) clearance is suggested to play a key role in the pathogenesis of sporadic Alzheimer’s disease (AD). Amyloid degradation is mediated by various mechanisms including fragm...

Authors: Tunahan Kirabali, Serena Rigotti, Alessandro Siccoli, Filip Liebsch, Adeola Shobo, Christoph Hock, Roger M. Nitsch, Gerhard Multhaup and Luka Kulic

A post-translational modification signature defines changes in soluble tau correlating with oligomerization in early stage Alzheimer’s disease brain

Tau is a microtubule-binding protein that can receive various post-translational modifications (PTMs) including phosphorylation, methylation, acetylation, glycosylation, nitration, sumoylation and truncation. ...

Authors: Ebru Ercan-Herbst, Jens Ehrig, David C. Schöndorf, Annika Behrendt, Bernd Klaus, Borja Gomez Ramos, Nuria Prat Oriol, Christian Weber and Dagmar E. Ehrnhoefer

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. W...

Authors: Alice Goldenberg, Florent Marguet, Vianney Gilard, Aude-Marie Cardine, Adnan Hassani, François Doz, Sophie Radi, Stéphanie Vasseur, Jacqueline Bou, Maud Branchaud, Claude Houdayer, Stéphanie Baert-Desurmont, Annie Laquerriere and Thierry Frebourg

Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases

Motor-, behavior- and/or cognition-related symptoms are key hallmarks in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with TDP-43 pathology (FTLD-TDP), respect...

Authors: Lieselot Dedeene, Evelien Van Schoor, Rik Vandenberghe, Philip Van Damme, Koen Poesen and Dietmar Rudolf Thal

Immune landscapes associated with different glioblastoma molecular subtypes

Recent work has highlighted the tumor microenvironment as a central player in cancer. In particular, interactions between tumor and immune cells may help drive the development of brain tumors such as glioblast...

Authors: Maria Martinez-Lage, Timothy M. Lynch, Yingtao Bi, Carolina Cocito, Gregory P. Way, Sharmistha Pal, Josephine Haller, Rachel E. Yan, Amy Ziober, Aivi Nguyen, Manoj Kandpal, Donald M. O’Rourke, Jeffrey P. Greenfield, Casey S. Greene, Ramana V. Davuluri and Nadia Dahmane

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described ...

Authors: Christina Sundal, Susana Carmona, Maria Yhr, Odd Almström, Maria Ljungberg, John Hardy, Carola Hedberg-Oldfors, Åsa Fred, José Brás, Anders Oldfors, Oluf Andersen and Rita Guerreiro

Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the...

Authors: Rikesh M. Rajani, Julien Ratelade, Valérie Domenga-Denier, Yoshiki Hase, Hannu Kalimo, Raj N. Kalaria and Anne Joutel

Attenuation of neuroinflammation reverses Adriamycin-induced cognitive impairments

Numerous clinical studies have established the debilitating neurocognitive side effects of chemotherapy in the treatment of breast cancer, often referred as chemobrain. We hypothesize that cognitive impairment...

Authors: Barrett D. Allen, Lauren A. Apodaca, Amber R. Syage, Mineh Markarian, Al Anoud D. Baddour, Harutyun Minasyan, Leila Alikhani, Celine Lu, Brian L. West, Erich Giedzinski, Janet E. Baulch and Munjal M. Acharya

Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing

Many biology-based precision drugs are available that neutralize aberrant molecular pathways in cancer. Molecular heterogeneity and the lack of reliable companion diagnostic biomarkers for many drugs makes tar...

Authors: Krissie Lenting, Corina N. A. M. van den Heuvel, Anne van Ewijk, Duaa ElMelik, Remco de Boer, Elizabeth Tindall, Ge Wei, Benno Kusters, Maarten te Dorsthorst, Mark ter Laan, Martijn A. Huynen and William P. Leenders

Exosome release and neuropathology induced by α-synuclein: new insights into protective mechanisms of Drp1 inhibition

Targeting alpha-synuclein (α-syn) as a therapeutic strategy for Parkinson’s disease (PD) has been intensively pursued largely due to its well-recognized pathogenic role. Since its discovery as the first famili...

Authors: Rebecca Z. Fan, Min Guo, Shouqing Luo, Mei Cui and Kim Tieu

Alzheimer’s disease tau is a prominent pathology in LRRK2 Parkinson’s disease

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson’s disease (PD). While the clinical presentation of LRRK2 mutation carriers is similar to that of idiopathic PD (iP...

Authors: Michael X. Henderson, Medha Sengupta, John Q. Trojanowski and Virginia M. Y. Lee

DNA repair deficiency and senescence in concussed professional athletes involved in contact sports

Mild traumatic brain injury (mTBI) leads to diverse symptoms including mood disorders, cognitive decline, and behavioral changes. In some individuals, these symptoms become chronic and persist in the long-term...

Authors: Nicole Schwab, Karl Grenier and Lili-Naz Hazrati

Improved risk-stratification for posterior fossa ependymoma of childhood considering clinical, histological and genetic features – a retrospective analysis of the HIT ependymoma trial cohort

Risk stratification of children with ependymomas of the posterior fossa in current therapeutic protocols is mainly based on clinical criteria. We aimed to identify independent outcome predictors for this disea...

Authors: Stephanie T. Jünger, Martin Mynarek, Inken Wohlers, Evelyn Dörner, Anja zur Mühlen, Natalia Velez-Char, Katja von Hoff, Stefan Rutkowski, Monika Warmuth-Metz, Rolf-Dieter Kortmann, Beate Timmermann, Sven Rahmann, Ludger Klein-Hitpass, Andre O. von Bueren and Torsten Pietsch

Increased soluble amyloid-beta causes early aberrant brain network hypersynchronisation in a mature-onset mouse model of amyloidosis

Alzheimer’s disease (AD) is the most common form of dementia in the elderly. According to the amyloid hypothesis, the accumulation and deposition of amyloid-beta (Aβ) peptides play a key role in AD. Soluble Aβ...

Authors: Inès R. H. Ben-Nejma, Aneta J. Keliris, Jasmijn Daans, Peter Ponsaerts, Marleen Verhoye, Annemie Van der Linden and Georgios A. Keliris

Correction to: c-MYC overexpression induces choroid plexus papillomas through a T-cell mediated inflammatory mechanism

In the original version of this article [1], there was 1 error in the affiliation of the European Institute of Oncology (affiliation 3). In this correction article the updated affiliation is shown for clarific...

Authors: Ashirwad Merve, Xinyu Zhang, Nicola Pomella, Serena Acquati, Joerg D. Hoeck, Anaelle Dumas, Gabriel Rosser, Yichen Li, Jennie Jeyapalan, Silvia Vicenzi, Qianhai Fan, Zeng Jie Yang, Arianna Sabò, Denise Sheer, Axel Behrens and Silvia Marino

Different aspects of Alzheimer’s disease-related amyloid β-peptide pathology and their relationship to amyloid positron emission tomography imaging and dementia

Alzheimer’s disease (AD)-related amyloid β-peptide (Aβ) pathology in the form of amyloid plaques and cerebral amyloid angiopathy (CAA) spreads in its topographical distribution, increases in quantity, and unde...

Authors: Dietmar Rudolf Thal, Alicja Ronisz, Thomas Tousseyn, Ajeet Rijal Upadhaya, Karthikeyan Balakrishnan, Rik Vandenberghe, Mathieu Vandenbulcke, Christine A. F. von Arnim, Markus Otto, Thomas G. Beach, Johan Lilja, Kerstin Heurling, Aruna Chakrabarty, Azzam Ismail, Christopher Buckley, Adrian P. L. Smith…

N368-Tau fragments generated by legumain are detected only in trace amount in the insoluble Tau aggregates isolated from AD brain

Intraneuronal insoluble inclusions made of Tau protein are neuropathological hallmarks of Alzheimer Disease (AD). Cleavage of Tau by legumain (LGMN) has been proposed to be crucial for aggregation of Tau into ...

Authors: Kerstin Schlegel, Khader Awwad, Roland G. Heym, David Holzinger, Annika Doell, Stefan Barghorn, Thomas R. Jahn, Corinna Klein, Yulia Mordashova, Michael Schulz and Laura Gasparini

Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading

Authors: Arnault Tauziède-Espariat, Mélanie Pagès, Alexandre Roux, Aurore Siegfried, Emmanuelle Uro-Coste, Yvan Nicaise, Annick Sevely, Marion Gambart, Sergio Boetto, Martin Dupuy, Pomone Richard, Romain Perbet, Matthieu Vinchon, Sabine Caron, Felipe Andreiuolo, Albane Gareton…

The level of activity of the alternative lengthening of telomeres correlates with patient age in IDH-mutant ATRX-loss-of-expression anaplastic astrocytomas

All cancer cells need to maintain functional telomeres to sustain continuous cell division and proliferation. In human diffuse gliomas, functional telomeres are maintained due either to reactivation of telomer...

Authors: Nathalie Grandin, Bruno Pereira, Camille Cohen, Pauline Billard, Caroline Dehais, Catherine Carpentier, Ahmed Idbaih, Franck Bielle, François Ducray, Dominique Figarella-Branger, Jean-Yves Delattre, Marc Sanson, Patrick Lomonte, Delphine Poncet, Pierre Verrelle and Michel Charbonneau

Microglial motility in Alzheimer’s disease and after Aβ42 immunotherapy: a human post-mortem study

Microglial function is highly dependent on cell motility, with baseline motility required for homeostatic surveillance activity and directed motility to migrate towards a source of injury. Experimental evidenc...

Authors: Diana K. Franco-Bocanegra, Bethany George, Laurie C. Lau, Clive Holmes, James A. R. Nicoll and Delphine Boche

Region-specific interneuron demyelination and heightened anxiety-like behavior induced by adolescent binge alcohol treatment

Adolescent binge drinking represents a major public health challenge and can lead to persistent neurological and mental conditions, but the underlying pathogenic mechanisms remain poorly understood. Using a mo...

Authors: James Rice, Laurence Coutellier, Jeffrey L. Weiner and Chen Gu

Chemokines modulate the tumour microenvironment in pituitary neuroendocrine tumours

Non-tumoural cells within the tumour microenvironment (TME) influence tumour proliferation, invasiveness and angiogenesis. Little is known about TME in pituitary neuroendocrine tumours (PitNETs). We aimed to c...

Authors: Pedro Marques, Sayka Barry, Eivind Carlsen, David Collier, Amy Ronaldson, Sherine Awad, Neil Dorward, Joan Grieve, Nigel Mendoza, Samiul Muquit, Ashley B. Grossman, Frances Balkwill and Márta Korbonits

In vivo detection of tau fibrils and amyloid β aggregates with luminescent conjugated oligothiophenes and multiphoton microscopy

The detection of amyloid beta deposits and neurofibrillary tangles, both hallmarks of Alzheimer’s disease (AD), is key to understanding the mechanisms underlying these pathologies. Luminescent conjugated oligo...

Authors: Maria Calvo-Rodriguez, Steven S. Hou, Austin C. Snyder, Simon Dujardin, Hamid Shirani, K. Peter R. Nilsson and Brian J. Bacskai

Synergistic toxicity in an in vivo model of neurodegeneration through the co-expression of human TDP-43^M337V and tau^T175D protein

Although it has been suggested that the co-expression of multiple pathological proteins associated with neurodegeneration may act synergistically to induce more widespread neuropathology, experimental evidence...

Authors: Alexander J. Moszczynski, Madeline Harvey, Niveen Fulcher, Cleusa de Oliveira, Patrick McCunn, Neil Donison, Robert Bartha, Susanne Schmid, Michael J. Strong and Kathryn Volkening

Multiplex proteomics identifies novel CSF and plasma biomarkers of early Alzheimer’s disease

To date, the development of disease-modifying therapies for Alzheimer’s disease (AD) has largely focused on the removal of amyloid beta Aβ fragments from the CNS. Proteomic profiling of patient fluids may help...

Authors: Christopher D. Whelan, Niklas Mattsson, Michael W. Nagle, Swetha Vijayaraghavan, Craig Hyde, Shorena Janelidze, Erik Stomrud, Julie Lee, Lori Fitz, Tarek A. Samad, Gayathri Ramaswamy, Richard A. Margolin, Anders Malarstig and Oskar Hansson

BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Che...

Authors: J. Picarsic, T. Pysher, H. Zhou, M. Fluchel, T. Pettit, M. Whitehead, L. F. Surrey, B. Harding, G. Goldstein, Y. Fellig, M. Weintraub, B. C. Mobley, P. M. Sharples, M. L. Sulis, E. L. Diamond, R. Jaffe…

Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology

Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer’s disease (AD) and Parkinson’s disease (PD), complicating clinical diagnosis and patient management....

Authors: Amanda N. Sacino, Stefan Prokop, Meggen A. Walsh, Jennifer Adamson, S. H. Subramony, Amy Krans, Peter K. Todd, Benoit I. Giasson and Anthony T. Yachnis

Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome

CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of ...

Authors: Amy Krans, Geena Skariah, Yuan Zhang, Bryana Bayly and Peter K. Todd

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests wit...

Authors: Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda…

Sarm1 deletion suppresses TDP-43-linked motor neuron degeneration and cortical spine loss

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition that primarily affects the motor system and shares many features with frontotemporal dementia (FTD). Evidence suggests that ALS is a ‘...

Authors: Matthew A. White, Ziqiang Lin, Eugene Kim, Christopher M. Henstridge, Emiliano Pena Altamira, Camille K. Hunt, Ella Burchill, Isobel Callaghan, Andrea Loreto, Heledd Brown-Wright, Richard Mead, Camilla Simmons, Diana Cash, Michael P. Coleman and Jemeen Sreedharan

Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions

Amyotrophic lateral sclerosis (ALS) is characterized pathologically by the occurrence of phosphorylated TDP-43 (pTDP-43)-immunoreactive neuronal and glial inclusions in the central nervous system. Recent studi...

Authors: Fumiaki Mori, Mari Tada, Tomoya Kon, Yasuo Miki, Kunikazu Tanji, Hidekachi Kurotaki, Masahiko Tomiyama, Tomohiko Ishihara, Osamu Onodera, Akiyoshi Kakita and Koichi Wakabayashi

[¹⁸F]-AV-1451 binding profile in chronic traumatic encephalopathy: a postmortem case series

Chronic traumatic encephalopathy (CTE) is a tauopathy associated to repetitive head trauma. There are no validated in vivo biomarkers of CTE and a definite diagnosis can only be made at autopsy. Recent studies...

Authors: Marta Marquié, Cinthya Agüero, Ana C. Amaral, Alberto Villarejo-Galende, Prianca Ramanan, Michael Siao Tick Chong, Nil Sáez-Calveras, Rachel E. Bennett, Eline E. Verwer, Sally Ji Who Kim, Maeva Dhaynaut, Victor E. Alvarez, Keith A. Johnson, Ann C. McKee, Matthew P. Frosch and Teresa Gómez-Isla

Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities

In this multi-institutional study we compiled a retrospective cohort of 86 posterior fossa tumors having received the diagnosis of cerebellar glioblastoma (cGBM). All tumors were reviewed histologically and su...

Authors: Annekathrin Reinhardt, Damian Stichel, Daniel Schrimpf, Christian Koelsche, Annika K. Wefers, Azadeh Ebrahimi, Philipp Sievers, Kristin Huang, M. Belén Casalini, Francisco Fernández-Klett, Abigail Suwala, Michael Weller, Dorothee Gramatzki, Joerg Felsberg, Guido Reifenberger, Albert Becker…

Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo

For the proper organization of the six-layered mammalian neocortex it is required that neurons migrate radially from their place of birth towards their designated destination. The molecular machinery underlyin...

Authors: Lena Will, Sybren Portegies, Jasper van Schelt, Merel van Luyk, Dick Jaarsma and Casper C. Hoogenraad

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

A hexanucleotide repeat expansion in a noncoding region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Reduction of select or total C9orf72 t...

Authors: Shangxi Xiao, Paul M. McKeever, Agnes Lau and Janice Robertson

Chronic nigral neuromodulation aggravates behavioral deficits and synaptic changes in an α-synuclein based rat model for Parkinson’s disease

Aggregation of alpha-synuclein (α-SYN) is the pathological hallmark of several diseases named synucleinopathies, including Parkinson’s disease (PD), which is the most common neurodegenerative motor disorder. A...

Authors: Teresa Torre-Muruzabal, Jens Devoght, Chris Van den Haute, Bert Brône, Anke Van der Perren and Veerle Baekelandt

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants

Tau aggregation is a hallmark feature in a subset of patients with frontotemporal dementia (FTD). Early and selective loss of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterio...

Authors: Li-Chun Lin, Alissa L. Nana, Mackenzie Hepker, Ji-Hye Lee Hwang, Stephanie E. Gaus, Salvatore Spina, Celica G. Cosme, Li Gan, Lea T. Grinberg, Daniel H. Geschwind, Giovanni Coppola, Howard J. Rosen, Bruce L. Miller and William W. Seeley

Correction to: Retinal pathology in experimental optic neuritis is characterized by retrograde degeneration and gliosis

In the original publication of this article [1], Fig. 10 contained two panels “C” as panel “F” was accidentally omitted. The incorrect (Fig. 1) and correct (Fig. 2) versions are published in this correction ar...

Authors: Praveena Manogaran, Marijana Samardzija, Anaïs Nura Schad, Carla Andrea Wicki, Christine Walker-Egger, Markus Rudin, Christian Grimm and Sven Schippling

The prognostic role of IDH mutations in homogeneously treated patients with anaplastic astrocytomas and glioblastomas

The detection of IDH mutations in patients with diffusely infiltrating malignant astrocytomas resulted in substantial modifications in the concept of WHO classification of these tumors. An important underlying...

Authors: Arne Christians, Antonia Adel-Horowski, Rouzbeh Banan, Ulrich Lehmann, Stephan Bartels, Felix Behling, Alonso Barrantes-Freer, Christine Stadelmann, Veit Rohde, Florian Stockhammer and Christian Hartmann

Capture at the single cell level of metabolic modules distinguishing aggressive and indolent glioblastoma cells

Glioblastoma cell ability to adapt their functioning to microenvironment changes is a source of the extensive intra-tumor heterogeneity characteristic of this devastating malignant brain tumor. A systemic view...

Authors: Mirca S. Saurty-Seerunghen, Léa Bellenger, Elias A. El-Habr, Virgile Delaunay, Delphine Garnier, Hervé Chneiweiss, Christophe Antoniewski, Ghislaine Morvan-Dubois and Marie-Pierre Junier

Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder, which causes dysfunction/loss of lower motor neurons and muscle weakness as well as atrophy. While SMA is primarily considered as a motor n...

Authors: Wiebke A. Rehorst, Maximilian P. Thelen, Hendrik Nolte, Clara Türk, Sebahattin Cirak, Jonathan M. Peterson, G. William Wong, Brunhilde Wirth, Marcus Krüger, Dominic Winter and Min Jeong Kye

Plasminogen Activator Inhibitor-1 (PAI-1) deficiency predisposes to depression and resistance to treatments

Major depressive disorder (MDD) is one of the most frequent psychiatric illnesses, leading to reduced quality of life, ability to work and sociability, thus ranking among the major causes of disability and mor...

Authors: Hélène Party, Cléo Dujarrier, Marie Hébert, Sophie Lenoir, Sara Martinez de Lizarrondo, Raphaël Delépée, Claudine Fauchon, Marie-Christine Bouton, Pauline Obiang, Olivier Godefroy, Etienne Save, Laurent Lecardeur, Joëlle Chabry, Denis Vivien and Véronique Agin

Profiling the unique protective properties of intracranial arterial endothelial cells

Cardiovascular disorders, like atherosclerosis and hypertension, are increasingly known to be associated with vascular cognitive impairment (VCI). In particular, intracranial atherosclerosis is one of the main...

Authors: Dorien M. A. Hermkens, Olga C. G. Stam, Nienke M. de Wit, Ruud D. Fontijn, Aldo Jongejan, Perry D. Moerland, Claire Mackaaij, Ingeborg S. E. Waas, Mat J. A. P. Daemen and Helga E. de Vries

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most...

Authors: Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman…

Epigenetic downregulation of STAT6 increases HIF-1α expression via mTOR/S6K/S6, leading to enhanced hypoxic viability of glioma cells

Multifunctional signal transducer and activator of transcription (STAT) proteins play important roles in cancer. Here, we have shown that STAT6 is epigenetically silenced in some cases of malignant glioblastom...

Authors: Soo Jung Park, Hyunmi Kim, Se Hyuk Kim, Eun-hye Joe and Ilo Jou

Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson’s disease brain extracts in transgenic mice

Synucleinopathies [Parkinson’s disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA)] share filamentous α-synuclein assemblies in nerve cells and glial cells. We compared the abilitie...

Authors: Isabelle Lavenir, Daniela Passarella, Masami Masuda-Suzukake, Annabelle Curry, Janice L. Holton, Bernardino Ghetti and Michel Goedert

The p75^NTR neurotrophin receptor is required to organize the mature neuromuscular synapse by regulating synaptic vesicle availability

The coordinated movement of organisms relies on efficient nerve-muscle communication at the neuromuscular junction. After peripheral nerve injury or neurodegeneration, motor neurons and Schwann cells increase ...

Authors: Viviana Pérez, Francisca Bermedo-Garcia, Diego Zelada, Felipe A. Court, Miguel Ángel Pérez, Marco Fuenzalida, Johanna Ábrigo, Claudio Cabello-Verrugio, Guillermo Moya-Alvarado, Juan Carlos Tapia, Vicente Valenzuela, Claudio Hetz, Francisca C. Bronfman and Juan Pablo Henríquez