Articles

Dysfunction in nonsense-mediated decay, protein homeostasis, mitochondrial function, and brain connectivity in ALS-FUS mice with cognitive deficits

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of the same disease spectrum of adult-onset neurodegenerative diseases that affect the motor and cognitive functions, re...

Authors: Wan Yun Ho, Ira Agrawal, Sheue-Houy Tyan, Emma Sanford, Wei-Tang Chang, Kenneth Lim, Jolynn Ong, Bernice Siu Yan Tan, Aung Aung Kywe Moe, Regina Yu, Peiyan Wong, Greg Tucker-Kellogg, Edward Koo, Kai-Hsiang Chuang and Shuo-Chien Ling

The App^NL-G-F mouse retina is a site for preclinical Alzheimer’s disease diagnosis and research

In this study, we report the results of a comprehensive phenotyping of the retina of the App^NL-G-F mouse. We demonstrate that soluble Aβ accumulation is present in the retina of these mice early in life and progr...

Authors: Marjan Vandenabeele, Lien Veys, Sophie Lemmens, Xavier Hadoux, Géraldine Gelders, Luca Masin, Lutgarde Serneels, Jan Theunis, Takashi Saito, Takaomi C. Saido, Murali Jayapala, Patrick De Boever, Bart De Strooper, Ingeborg Stalmans, Peter van Wijngaarden, Lieve Moons…

Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain

Type 2 diabetes mellitus (T2D), characterised by peripheral insulin resistance, is a risk factor for dementia. In addition to its contribution to small and large vessel disease, T2D may directly damage cells o...

Authors: Joanna J. Bury, Annabelle Chambers, Paul R. Heath, Paul G. Ince, Pamela J. Shaw, Fiona E. Matthews, Carol Brayne, Julie E. Simpson and Stephen B. Wharton

A roadmap of brain recovery in a mouse model of concussion: insights from neuroimaging

Concussion or mild traumatic brain injury is the most common form of traumatic brain injury with potentially long-term consequences. Current objective diagnosis and treatment options are limited to clinical as...

Authors: Xuan Vinh To and Fatima A. Nasrallah

Microglial gene signature reveals loss of homeostatic microglia associated with neurodegeneration of Alzheimer’s disease

Microglia-mediated neuroinflammation has been implicated in the pathogenesis of Alzheimer’s disease (AD). Although microglia in aging and neurodegenerative disease model mice show a loss of homeostatic phenoty...

Authors: Akira Sobue, Okiru Komine, Yuichiro Hara, Fumito Endo, Hiroyuki Mizoguchi, Seiji Watanabe, Shigeo Murayama, Takashi Saito, Takaomi C. Saido, Naruhiko Sahara, Makoto Higuchi, Tomoo Ogi and Koji Yamanaka

Lack of astrocytes hinders parenchymal oligodendrocyte precursor cells from reaching a myelinating state in osmolyte-induced demyelination

Demyelinated lesions in human pons observed after osmotic shifts in serum have been referred to as central pontine myelinolysis (CPM). Astrocytic damage, which is prominent in neuroinflammatory diseases like n...

Authors: Melanie Lohrberg, Anne Winkler, Jonas Franz, Franziska van der Meer, Torben Ruhwedel, Nikoloz Sirmpilatze, Rakshit Dadarwal, Ronja Handwerker, Daniel Esser, Kerstin Wiegand, Christian Hagel, Andreas Gocht, Fatima Barbara König, Susann Boretius, Wiebke Möbius, Christine Stadelmann…

Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by loss of lower motor neurons, which leads to proximal muscle weakness and atrophy. SMA is caused by reduced survival motor neuron (SMN) ...

Authors: Maximilian Paul Thelen, Brunhilde Wirth and Min Jeong Kye

Label-free vibrational imaging of different Aβ plaque types in Alzheimer’s disease reveals sequential events in plaque development

The neuropathology of Alzheimer’s disease (AD) is characterized by hyperphosphorylated tau neurofibrillary tangles (NFTs) and amyloid-beta (Aβ) plaques. Aβ plaques are hypothesized to follow a development sequ...

Authors: Dominik Röhr, Baayla D. C. Boon, Martin Schuler, Kristin Kremer, Jeroen J. M. Hoozemans, Femke H. Bouwman, Samir F. El-Mashtoly, Andreas Nabers, Frederik Großerueschkamp, Annemieke J. M. Rozemuller and Klaus Gerwert

Characterization and oncolytic virus targeting of FAP-expressing tumor-associated pericytes in glioblastoma

Cancer-associated fibroblasts (CAFs) are activated fibroblasts constituting the major stromal components in many types of cancer. CAFs contribute to hallmarks of cancer such as proliferation, invasion and immu...

Authors: Ming Li, Guoping Li, Juri Kiyokawa, Zain Tirmizi, Leland G. Richardson, Jianfang Ning, Saumya Das, Robert L. Martuza, Anat Stemmer-Rachamimov, Samuel D. Rabkin and Hiroaki Wakimoto

Isotope-reinforced polyunsaturated fatty acids improve Parkinson’s disease-like phenotype in rats overexpressing α-synuclein

Lipid peroxidation is a key to a portfolio of neurodegenerative diseases and plays a central role in α-synuclein (α-syn) toxicity, mitochondrial dysfunction and neuronal death, all key processes in the pathoge...

Authors: M. Flint Beal, Jayandra Chiluwal, Noel Y. Calingasan, Ginger L. Milne, Mikhail S. Shchepinov and Victor Tapias

Effects of H3.3G34V mutation on genomic H3K36 and H3K27 methylation patterns in isogenic pediatric glioma cells

Histone H3.3 mutation (H3F3A) occurs in 50% of cortical pediatric high-grade gliomas. This mutation replaces glycine 34 with arginine or valine (G34R/V), impairing SETD2 activity (H3K36-specific trimethyltransfer...

Authors: Tina Yi-Ting Huang, Andrea Piunti, Jin Qi, Marc Morgan, Elizabeth Bartom, Ali Shilatifard and Amanda M. Saratsis

MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

The microtubule-associated protein tau (MAPT) H1 haplotype is the strongest genetic risk factor for corticobasal degeneration (CBD). However, the specific H1 subhaplotype association is not well defined, and it i...

Authors: Rebecca R. Valentino, Shunsuke Koga, Ronald L. Walton, Alexandra I. Soto-Beasley, Naomi Kouri, Michael A. DeTure, Melissa E. Murray, Patrick W. Johnson, Ronald C. Petersen, Bradley F. Boeve, Ryan J. Uitti, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross and Michael G. Heckman

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy

CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by colony stimulating factor 1 receptor (CSF1R) gene mutations. The disease has a global dis...

Authors: Jinming Han, Heela Sarlus, Zbigniew K. Wszolek, Virginija Danylaité Karrenbauer and Robert A. Harris

Retinal ganglion cell degeneration correlates with hippocampal spine loss in experimental Alzheimer’s disease

Neuronal dendritic and synaptic pruning are early features of neurodegenerative diseases, including Alzheimer’s disease. In addition to brain pathology, amyloid plaque deposition, microglial activation, and ce...

Authors: Ryan J. Bevan, Tim R. Hughes, Pete A. Williams, Mark A. Good, B. Paul Morgan and James E. Morgan

Influence of APOE genotype in primary age-related tauopathy

The term “Primary age-related tauopathy” (PART) was coined in 2014 to describe the common neuropathological observation of neurofibrillary tangles without associated beta-amyloid (Aβ) pathology. It is possible...

Authors: Andrew C. Robinson, Yvonne S. Davidson, Federico Roncaroli, James Minshull, Phillip Tinkler, Michael A. Horan, Antony Payton, Neil Pendleton and David M. A. Mann

Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia

Hereditary spastic paraplegias (HSPs) are caused by a length-dependent axonopathy of long corticospinal neurons, but how axons of these cortical projection neurons (PNs) degenerate remains elusive. We generate...

Authors: Yongchao Mou, Yi Dong, Zhenyu Chen, Kyle R. Denton, Michael O. Duff, Craig Blackstone, Su-Chun Zhang and Xue-Jun Li

Infusion of blood from mice displaying cerebral amyloidosis accelerates amyloid pathology in animal models of Alzheimer’s disease

Previous studies showed that injection of tissue extracts containing amyloid-β (Aβ) aggregates accelerate amyloid deposition in the brain of mouse models of Alzheimer’s disease (AD) through prion-like mechanis...

Authors: Rodrigo Morales, Claudia Duran-Aniotz, Javiera Bravo-Alegria, Lisbell D. Estrada, Mohammad Shahnawaz, Ping-Ping Hu, Carlos Kramm, Diego Morales-Scheihing, Akihiko Urayama and Claudio Soto

Collagenous Alzheimer amyloid plaque component impacts on the compaction of amyloid-β plaques

Massive deposition of amyloid β peptides (Aβ) as senile plaques (SP) characterizes the brain pathology of Alzheimer’s disease (AD). SPs exhibit a variety of morphologies, although little is known about the SP ...

Authors: Tadafumi Hashimoto, Daisuke Fujii, Yasushi Naka, Mayu Kashiwagi-Hakozaki, Yuko Matsuo, Yusuke Matsuura, Tomoko Wakabayashi and Takeshi Iwatsubo

Neuroinflammation and protein pathology in Parkinson’s disease dementia

Parkinson’s disease dementia is neuropathologically characterized by aggregates of α-synuclein (Lewy bodies) in limbic and neocortical areas of the brain with additional involvement of Alzheimer’s disease-typ...

Authors: Antonina Kouli, Marta Camacho, Kieren Allinson and Caroline H. Williams-Gray

Clusterin ameliorates tau pathology in vivo by inhibiting fibril formation

The molecular chaperone Clusterin (CLU) impacts the amyloid pathway in Alzheimer’s disease (AD) but its role in tau pathology is unknown. We observed CLU co-localization with tau aggregates in AD and primary t...

Authors: Aleksandra M. Wojtas, Yari Carlomagno, Jonathon P. Sens, Silvia S. Kang, Tanner D. Jensen, Aishe Kurti, Kelsey E. Baker, Taylor J. Berry, Virginia R. Phillips, Monica Casey Castanedes, Ayesha Awan, Michael DeTure, Cristhoper H. Fernandez De Castro, Ariston L. Librero, Mei Yue, Lillian Daughrity…

Cerebral organoids: emerging ex vivo humanoid models of glioblastoma

Glioblastoma is an aggressive form of brain cancer that has seen only marginal improvements in its bleak survival outlook of 12–15 months over the last forty years. There is therefore an urgent need for the de...

Authors: Michail-Dimitrios Papaioannou, Kevin Sangster, Rifat Shahriar Sajid, Ugljesa Djuric and Phedias Diamandis

Prenatal alcohol exposure is a leading cause of interneuronopathy in humans

Alcohol affects multiple neurotransmitter systems, notably the GABAergic system and has been recognised for a long time as particularly damaging during critical stages of brain development. Nevertheless, data ...

Authors: Florent Marguet, Gaëlle Friocourt, Mélanie Brosolo, Fanny Sauvestre, Pascale Marcorelles, Céline Lesueur, Stéphane Marret, Bruno J. Gonzalez and Annie Laquerrière

Oligodendrocyte myelin glycoprotein as a novel target for pathogenic autoimmunity in the CNS

Autoimmune disorders of the central nervous system (CNS) comprise a broad spectrum of clinical entities. The stratification of patients based on the recognized autoantigen is of great importance for therapy op...

Authors: Ramona Gerhards, Lena Kristina Pfeffer, Jessica Lorenz, Laura Starost, Luise Nowack, Franziska S. Thaler, Miriam Schlüter, Heike Rübsamen, Caterina Macrini, Stephan Winklmeier, Simone Mader, Mattias Bronge, Hans Grönlund, Regina Feederle, Hung-En Hsia, Stefan F. Lichtenthaler…

Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility

The Ihara epileptic rat (IER) is a mutant model with limbic-like seizures whose pathology and causative gene remain elusive. In this report, via linkage analysis, we identified Down syndrome cell adhesion mole...

Authors: Yoneko Hayase, Shigeru Amano, Koichi Hashizume, Takashi Tominaga, Hiroyuki Miyamoto, Yukie Kanno, Yukiko Ueno-Inoue, Takayoshi Inoue, Mayumi Yamada, Shigehiro Ogata, Shabeesh Balan, Ken Hayashi, Yoshiki Miura, Kentaro Tokudome, Yukihiro Ohno, Takuma Nishijo…

Induction of amyloid-β deposits from serially transmitted, histologically silent, Aβ seeds issued from human brains

In humans, iatrogenic transmission of cerebral amyloid-β (Aβ)-amyloidosis is suspected following inoculation of pituitary-derived hormones or dural grafts presumably contaminated with Aβ proteins as well as af...

Authors: Anne-Sophie Hérard, Fanny Petit, Charlotte Gary, Martine Guillermier, Susana Boluda, Clément M. Garin, Suzanne Lam and Marc Dhenain

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. ...

Authors: Masashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, Ayami Ozaki, Yasushi Oya, Hirofumi Konishi, Akinori Nakamura, Ryuta Abe, Hiroshi Takai, Ritsuko Hanajima, Hiroshi Doi, Fumiaki Tanaka, Hisayoshi Nakamura, Ikuya Nonaka, Zhaoxia Wang, Shinichiro Hayashi…

Phenotypic characterization with somatic genome editing and gene transfer reveals the diverse oncogenicity of ependymoma fusion genes

Recurrent RELA and YAP1 fusions are intimately associated with tumorigenesis in supratentorial ependymomas. Chromothripsis and focal copy number alterations involving 11q are hallmarks of these tumors. However, i...

Authors: Mutsumi Takadera, Kaishi Satomi, Frank Szulzewsky, Patrick J. Cimino, Eric C. Holland, Tetsuya Yamamoto, Koichi Ichimura and Tatsuya Ozawa

Retinal capillary degeneration and blood-retinal barrier disruption in murine models of Alzheimer’s disease

Extensive effort has been made studying retinal pathology in Alzheimer’s disease (AD) to improve early noninvasive diagnosis and treatment. Particularly relevant are vascular changes, which appear prominent in...

Authors: Haoshen Shi, Yosef Koronyo, Dieu-Trang Fuchs, Julia Sheyn, Kolja Wawrowsky, Shouri Lahiri, Keith L. Black and Maya Koronyo-Hamaoui

TERT promoter mutation confers favorable prognosis regardless of 1p/19q status in adult diffuse gliomas with IDH1/2 mutations

TERT promoter mutations are commonly associated with 1p/19q codeletion in IDH-mutated gliomas. However, whether these mutations have an impact on patient survival independent of 1p/19q codeletion is unknown. In t...

Authors: Hideyuki Arita, Yuko Matsushita, Ryunosuke Machida, Kai Yamasaki, Nobuhiro Hata, Makoto Ohno, Shigeru Yamaguchi, Takashi Sasayama, Shota Tanaka, Fumi Higuchi, Toshihiko Iuchi, Kuniaki Saito, Masayuki Kanamori, Ken-ichiro Matsuda, Yohei Miyake, Kaoru Tamura…

Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice

The kinase TTBK1 is predominantly expressed in the central nervous system and has been implicated in neurodegenerative diseases including Alzheimer’s disease, frontotemporal lobar degeneration, and amyotrophic...

Authors: Pamela McMillan, Jeanna Wheeler, Rachel E. Gatlin, Laura Taylor, Tim Strovas, Misa Baum, Thomas D. Bird, Caitlin Latimer, C. Dirk Keene, Brian C. Kraemer and Nicole F. Liachko

Neuroglia infection by rabies virus after anterograde virus spread in peripheral neurons

The highly neurotropic rabies virus (RABV) enters peripheral neurons at axon termini and requires long distance axonal transport and trans-synaptic spread between neurons for the infection of the central nervo...

Authors: Madlin Potratz, Luca M. Zaeck, Carlotta Weigel, Antonia Klein, Conrad M. Freuling, Thomas Müller and Stefan Finke

Anti-Aβ antibodies bound to neuritic plaques enhance microglia activity and mitigate tau pathology

The brain pathology of Alzheimer’s disease (AD) is characterized by the misfolding and aggregation of both the amyloid beta (Aβ) peptide and hyperphosphorylated forms of the tau protein. Initial Aβ deposition ...

Authors: Vanessa Laversenne, Sameer Nazeeruddin, Emma C. Källstig, Philippe Colin, Christel Voize and Bernard L. Schneider

A novel structure associated with aging is augmented in the DPP6-KO mouse brain

In addition to its role as an auxiliary subunit of A-type voltage-gated K⁺ channels, we have previously reported that the single transmembrane protein Dipeptidyl Peptidase Like 6 (DPP6) impacts neuronal and synap...

Authors: Lin Lin, Ronald S. Petralia, Ross Lake, Ya-Xian Wang and Dax A. Hoffman

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

Alpha-synuclein is the main protein component of Lewy bodies, the pathological hallmark of Parkinson’s disease. However, genetic modifiers of cerebrospinal fluid (CSF) alpha-synuclein levels remain unknown. Th...

Authors: Laura Ibanez, Jorge A. Bahena, Chengran Yang, Umber Dube, Fabiana H. G. Farias, John P. Budde, Kristy Bergmann, Carol Brenner-Webster, John C. Morris, Richard J. Perrin, Nigel J. Cairns, John O’Donnell, Ignacio Álvarez, Monica Diez-Fairen, Miquel Aguilar, Rebecca Miller…

Microembolus clearance through angiophagy is an auxiliary mechanism preserving tissue perfusion in the rat brain

Considering its intolerance to ischemia, it is of critical importance for the brain to efficiently process microvascular occlusions and maintain tissue perfusion. In addition to collateral microvascular flow a...

Authors: Anne-Eva van der Wijk, Theodosia Georgakopoulou, Jisca Majolée, Jan S. M. van Bezu, Miesje M. van der Stoel, Bert J. van het Hof, Helga E. de Vries, Stephan Huveneers, Peter L. Hordijk, Erik N. T. P. Bakker and Ed van Bavel

Is the eye a window to the brain in Sanfilippo syndrome?

Sanfilippo syndrome is an untreatable form of childhood-onset dementia. Whilst several therapeutic strategies are being evaluated in human clinical trials including i.v. delivery of AAV9-based gene therapy, an...

Authors: Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson and Kim M. Hemsley

Bexarotene normalizes chemotherapy-induced myelin decompaction and reverses cognitive and sensorimotor deficits in mice

Frequently reported neurotoxic sequelae of cancer treatment include cognitive deficits and sensorimotor abnormalities that have long-lasting negative effects on the quality of life of an increasing number of c...

Authors: Angie C. A. Chiang, Alexandre V. Seua, Pooja Singhmar, Luis D. Arroyo, Rajasekaran Mahalingam, Jian Hu, Annemieke Kavelaars and Cobi J. Heijnen

In vivo RyR1 reduction in muscle triggers a core-like myopathy

Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the direct fu...

Authors: Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond…

Clinical and mutational profiles of adult medulloblastoma groups

Adult medulloblastomas are clinically and molecularly understudied due to their rarity. We performed molecular grouping, targeted sequencing, and TERT promoter Sanger sequencing on a cohort of 99 adult medullo...

Authors: Gabriel Chun-Hei Wong, Kay Ka-Wai Li, Wei-Wei Wang, Anthony Pak-Yin Liu, Queenie Junqi Huang, Aden Ka-Yin Chan, Manix Fung-Man Poon, Nellie Yuk-Fei Chung, Queenie Hoi-Wing Wong, Hong Chen, Danny Tat Ming Chan, Xian-Zhi Liu, Ying Mao, Zhen-Yu Zhang, Zhi-Feng Shi and Ho-Keung Ng

Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

The purpose of this study was to analyze the impact of copy number variations (CNV) on sporadic pituitary neuroendocrine tumors (PitNETs) prognosis, to identify specific prognosis markers according to the know...

Authors: Hélène Lasolle, Mad-Hélénie Elsensohn, Anne Wierinckx, Eudeline Alix, Clément Bonnefille, Alexandre Vasiljevic, Christine Cortet, Bénédicte Decoudier, Nathalie Sturm, Stephan Gaillard, Amandine Ferrière, Pascal Roy, Emmanuel Jouanneau, Philippe Bertolino, Claire Bardel, Damien Sanlaville…

PINK1/PARKIN signalling in neurodegeneration and neuroinflammation

Mutations in the PTEN-induced kinase 1 (PINK1) and Parkin RBR E3 ubiquitin-protein ligase (PARKIN) genes are associated with familial forms of Parkinson’s disease (PD). PINK1, a protein kinase, and PARKIN, an ...

Authors: Peter M. J. Quinn, Paula I. Moreira, António Francisco Ambrósio and C. Henrique Alves

Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings

Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander disease) is the mildest childhood form a...

Authors: Catherine Elizabeth Pringle, Robert Nelson, Willie Miller, Rashmi Kothary and Jean Michaud

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population

The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. In addition to the effects of the pathogenic expansion, a role of interm...

Authors: Karri Kaivola, Samuli J. Salmi, Lilja Jansson, Jyrki Launes, Laura Hokkanen, Anna-Kaisa Niemi, Kari Majamaa, Jari Lahti, Johan G. Eriksson, Timo Strandberg, Hannu Laaksovirta and Pentti J. Tienari

Genetic and epigenetic landscape of IDH-wildtype glioblastomas with FGFR3-TACC3 fusions

A subset of glioblastomas (GBMs) harbors potentially druggable oncogenic FGFR3-TACC3 (F3T3) fusions. However, their associated molecular and clinical features are poorly understood. Here we analyze the frequency ...

Authors: Douglas A. Mata, Jamal K. Benhamida, Andrew L. Lin, Chad M. Vanderbilt, Soo-Ryum Yang, Liliana B. Villafania, Donna C. Ferguson, Philip Jonsson, Alexandra M. Miller, Viviane Tabar, Cameron W. Brennan, Nelson S. Moss, Martin Sill, Ryma Benayed, Ingo K. Mellinghoff, Marc K. Rosenblum…

Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms

Abnormal synaptic formation and signaling is one of the key molecular features of autism spectrum disorders (ASD). Cortactin binding protein 2 (CTTNBP2), an ASD-linked gene, is known to regulate the subcellular d...

Authors: Pu-Yun Shih, Bing-Yuan Hsieh, Ching-Yen Tsai, Chiu-An Lo, Brian E. Chen and Yi-Ping Hsueh

Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity

A C9orf72 repeat expansion is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis. One of the suggested pathomechanisms is toxicity from dipeptide repeat proteins (DPR...

Authors: Annelies Quaegebeur, Idoia Glaria, Tammaryn Lashley and Adrian M. Isaacs

EZHIP is a specific diagnostic biomarker for posterior fossa ependymomas, group PFA and diffuse midline gliomas H3-WT with EZHIP overexpression

Authors: C. Antin, A. Tauziède-Espariat, M.-A. Debily, D. Castel, J. Grill, M. Pagès, O. Ayrault, F. Chrétien, A. Gareton, F. Andreiuolo, E. Lechapt and P. Varlet

Characterizing temporal genomic heterogeneity in pediatric low-grade gliomas

Recent discoveries have provided valuable insight into the genomic landscape of pediatric low-grade gliomas (LGGs) at diagnosis, facilitating molecularly targeted treatment. However, little is known about thei...

Authors: Margot A. Lazow, Lindsey Hoffman, Austin Schafer, Diana S. Osorio, Daniel R. Boué, Sarah Rush, Erin Wright, Adam Lane, Mariko D. DeWire-Schottmiller, Teresa Smolarek, Jared Sipple, Heather Taggert, Jaime Reuss, Ralph Salloum, Trent R. Hummel, Peter de Blank…

Cerebral amyloid angiopathy aggravates perivascular clearance impairment in an Alzheimer’s disease mouse model

Cerebral amyloid angiopathy (CAA), defined as the accumulation of amyloid-beta (Aβ) on the vascular wall, is a major pathology of Alzheimer’s disease (AD) and has been thought to be caused by the failure of Aβ...

Authors: Shin Heun Kim, Ji Hoon Ahn, Hyunwoo Yang, Peter Lee, Gou Young Koh and Yong Jeong

Correction to: Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC

An amendment to this paper has been published and can be accessed via the original article.

Authors: Bradley R. Groveman, Christina D. Orrù, Andrew G. Hughson, Lynne D. Raymond, Gianluigi Zanusso, Bernardino Ghetti, Katrina J. Campbell, Jiri Safar, Douglas Galasko and Byron Caughey