Articles

Meta-analysis of human prefrontal cortex reveals activation of GFAP and decline of synaptic transmission in the aging brain

Despite ongoing research efforts, mechanisms of brain aging are still enigmatic and need to be elucidated for a better understanding of age-associated cognitive decline. The aim of this study is to investigate...

Authors: Wasco Wruck and James Adjaye

Hippocampal tau oligomerization early in tau pathology coincides with a transient alteration of mitochondrial homeostasis and DNA repair in a mouse model of tauopathy

Insoluble intracellular aggregation of tau proteins into filaments and neurodegeneration are histopathological hallmarks of Alzheimer disease (AD) and other tauopathies. Recently, prefibrillar, soluble, oligom...

Authors: Jin Zheng, Mansour Akbari, Claire Schirmer, Marie-Line Reynaert, Anne Loyens, Bruno Lefebvre, Luc Buée, Deborah L. Croteau, Marie-Christine Galas and Vilhelm A. Bohr

Correction to: Inflammation of the choroid plexus in progressive multiple sclerosis: accumulation of granulocytes and T cells

The original publication of this article [1] contained an incorrect author name. The correct and incorrect information is shown in this correction article. The original article has been updated.

Authors: Sabela Rodríguez-Lorenzo, Julia Konings, Susanne van der Pol, Alwin Kamermans, Sandra Amor, Jack van Horssen, Maarten E. Witte, Gijs Kooij and Helga E. de Vries

Chronic traumatic encephalopathy in a former Australian rules football player diagnosed with Alzheimer’s disease

Authors: Alan J. Pearce, Joanne Sy, Maggie Lee, Antony Harding, Rowena Mobbs, Jennifer Batchelor, Catherine M. Suter and Michael E. Buckland

A single ultrasensitive assay for detection and discrimination of tau aggregates of Alzheimer and Pick diseases

Multiple neurodegenerative diseases are characterized by aggregation of tau molecules. Adult humans express six isoforms of tau that contain either 3 or 4 microtubule binding repeats (3R or 4R tau). Different ...

Authors: Michael A. Metrick II, Natália do Carmo Ferreira, Eri Saijo, Allison Kraus, Kathy Newell, Gianluigi Zanusso, Michele Vendruscolo, Bernardino Ghetti and Byron Caughey

FGFR- gene family alterations in low-grade neuroepithelial tumors

The discovery of fibroblast growth factor receptor (FGFR) gene family alterations as drivers of primary brain tumors has generated significant excitement, both as potential therapeutic targets as well as defin...

Authors: Tejus A. Bale

Single-nucleus RNA-seq identifies Huntington disease astrocyte states

Huntington Disease (HD) is an inherited movement disorder caused by expanded CAG repeats in the Huntingtin gene. We have used single nucleus RNASeq (snRNASeq) to uncover cellular phenotypes that change in the ...

Authors: Osama Al-Dalahmah, Alexander A. Sosunov, A. Shaik, Kenneth Ofori, Yang Liu, Jean Paul Vonsattel, Istvan Adorjan, Vilas Menon and James E. Goldman

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal re...

Authors: Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala…

Early-onset impairment of the ubiquitin-proteasome system in dopaminergic neurons caused by α-synuclein

Parkinson’s disease is a progressive neurodegenerative disorder characterised by the accumulation of misfolded α-synuclein in selected brain regions, including the substantia nigra pars compacta (SNpc), where ...

Authors: Chris McKinnon, Mitchell L. De Snoo, Elise Gondard, Clemens Neudorfer, Hien Chau, Sophie G. Ngana, Darren M. O’Hara, Jonathan M. Brotchie, James B. Koprich, Andres M. Lozano, Lorraine V. Kalia and Suneil K. Kalia

Subdural haematomas drain into the extracranial lymphatic system through the meningeal lymphatic vessels

Subdural haematomas (SDHs) are characterized by rapidly or gradually accumulated haematomas between the arachnoid and dura mater. The mechanism of haematoma clearance has not been clearly elucidated until now....

Authors: Xuanhui Liu, Chuang Gao, Jiangyuan Yuan, Tangtang Xiang, Zhitao Gong, Hongliang Luo, Weiwei Jiang, Yiming Song, Jinhao Huang, Wei Quan, Dong Wang, Ye Tian, Xintong Ge, Ping Lei, Jianning Zhang and Rongcai Jiang

The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas

A subset of gliomas has DNA repair defects that lead to hypermutated genomes. While such tumors are resistant to alkylating chemotherapies, they may also express more mutant neoantigens on their cell surfaces,...

Authors: Matthew McCord, Alicia Steffens, Rodrigo Javier, Kwok-Ling Kam, Kathleen McCortney and Craig Horbinski

Thalamostriatal degeneration contributes to dystonia and cholinergic interneuron dysfunction in a mouse model of Huntington’s disease

Huntington’s disease (HD) is an autosomal dominant trinucleotide repeat disorder characterized by choreiform movements, dystonia and striatal neuronal loss. Amongst multiple cellular processes, abnormal neurot...

Authors: Gabriel Crevier-Sorbo, Vladimir V. Rymar, Raphael Crevier-Sorbo and Abbas F. Sadikot

H3F3A mutant allele specific imbalance in an aggressive subtype of diffuse midline glioma, H3 K27M-mutant

Diffuse midline glioma, H3 K27M-mutant is a lethal brain tumor located in the thalamus, brain stem, or spinal cord. H3 K27M encoded by the mutation of a histone H3 gene such as H3F3A plays a pivotal role in the t...

Authors: Sachi Maeda, Fumiharu Ohka, Yusuke Okuno, Kosuke Aoki, Kazuya Motomura, Kazuhito Takeuchi, Hironao Kusakari, Nobuyuki Yanagisawa, Shinya Sato, Junya Yamaguchi, Kuniaki Tanahashi, Masaki Hirano, Akira Kato, Hiroyuki Shimizu, Yotaro Kitano, Shintaro Yamazaki…

Pre-clinical characterisation of E2814, a high-affinity antibody targeting the microtubule-binding repeat domain of tau for passive immunotherapy in Alzheimer’s disease

Tau deposition in the brain is a pathological hallmark of many neurodegenerative disorders, including Alzheimer’s disease (AD). During the course of these tauopathies, tau spreads throughout the brain via syna...

Authors: Malcolm Roberts, Ioanna Sevastou, Yoichi Imaizumi, Kavita Mistry, Sonia Talma, Madhurima Dey, Jane Gartlon, Hiroshi Ochiai, Zhi Zhou, Shigeru Akasofu, Naoki Tokuhara, Makoto Ogo, Muneo Aoyama, Hirofumi Aoyagi, Kate Strand, Ezat Sajedi…

Tau-tubulin kinase 1 and amyloid-β peptide induce phosphorylation of collapsin response mediator protein-2 and enhance neurite degeneration in Alzheimer disease mouse models

The accumulation of phosphorylated tau protein (pTau) in the entorhinal cortex (EC) is the earliest tau pathology in Alzheimer’s disease (AD). Tau tubulin kinase-1 (TTBK1) is a neuron-specific tau kinase and e...

Authors: Seiko Ikezu, Kaitlin L. Ingraham Dixie, Lacin Koro, Takashi Watanabe, Kozo Kaibuchi and Tsuneya Ikezu

Locus coeruleus pathology in progressive supranuclear palsy, and its relation to disease severity

The locus coeruleus is the major source of noradrenaline to the brain and contributes to a wide range of physiological and cognitive functions including arousal, attention, autonomic control, and adaptive beha...

Authors: Sanne Simone Kaalund, Luca Passamonti, Kieren S. J. Allinson, Alexander G. Murley, Trevor W. Robbins, Maria Grazia Spillantini and James B. Rowe

Genetic and histologic spatiotemporal evolution of recurrent, multifocal, multicentric and metastatic glioblastoma

Glioblastoma is the most frequent and aggressive primary brain tumor, characterized by extensive brain invasion and rarely, systemic metastases. The pathogenesis of metastatic glioblastoma is largely unknown. ...

Authors: Maria-Magdalena Georgescu and Adriana Olar

Inflammation of the choroid plexus in progressive multiple sclerosis: accumulation of granulocytes and T cells

The choroid plexus (CP) is strategically located between the peripheral blood and the cerebrospinal fluid, and is involved in the regulation of central nervous system (CNS) homeostasis. In multiple sclerosis (...

Authors: Sabela Rodríguez-Lorenzo, Julia Konings, Susanne van der Pol, Alwin Kamermans, Sandra Amor, Jack van Horssen, Maarten E. Witte, Gijs Kooij and Helga E. de Vries

DNA damage accumulates and responses are engaged in human ALS brain and spinal motor neurons and DNA repair is activatable in iPSC-derived motor neurons with SOD1 mutations

DNA damage is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS). However, relationships between DNA damage accumulation, DNA damage response (DDR), and upper and lower motor neuron vulnerab...

Authors: Byung Woo Kim, Ye Eun Jeong, Margaret Wong and Lee J. Martin

Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice

Human WWOX gene resides in the chromosomal common fragile site FRA16D and encodes a tumor suppressor WW domain-containing oxidoreductase. Loss-of-function mutations in both alleles of WWOX gene lead to autosomal ...

Authors: Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin and Li-Jin Hsu

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other...

Authors: Tatiana Orme, Dena Hernandez, Owen A. Ross, Celia Kun-Rodrigues, Lee Darwent, Claire E. Shepherd, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg…

N-acetylcysteine inhibits bacterial lipopeptide-mediated neutrophil transmigration through the choroid plexus in the developing brain

The etiology of neurological impairments associated with prematurity and other perinatal complications often involves an infectious or pro-inflammatory component. The use of antioxidant molecules have proved u...

Authors: Amin Mottahedin, Sandrine Blondel, Joakim Ek, Anna-Lena Leverin, Pernilla Svedin, Henrik Hagberg, Carina Mallard, Jean-Francois Ghersi-Egea and Nathalie Strazielle

A robust TDP-43 knock-in mouse model of ALS

Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset degenerative disorder of motor neurons. The diseased spinal cord motor neurons of more than 95% of amyotrophic lateral sclerosis (ALS) patients are c...

Authors: Shih-Ling Huang, Lien-Szu Wu, Min Lee, Chin-Wen Chang, Wei-Cheng Cheng, Yu-Sheng Fang, Yun-Ru Chen, Pei-Lin Cheng and Che-Kun James Shen

Innate signaling within the central nervous system recruits protective neutrophils

There is great interest in understanding how the central nervous system (CNS) communicates with the immune system for recruitment of protective responses. Infiltrating phagocytic monocytes and granulocytes are...

Authors: Reza Khorooshi, Joanna Marczynska, Ruthe Storgaard Dieu, Vian Wais, Christian Rønn Hansen, Stephanie Kavan, Mads Thomassen, Mark Burton, Torben Kruse, Gill A. Webster and Trevor Owens

Correction to: Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma

The original publication of this article [1] contained 3 minor errors in Figs. 1, 3 and 5. In this correction article the updated figures are published. The figure captions describe the updated information in ...

Authors: Verena Haage, Marcus Semtner, Ramon Oliveira Vidal, Daniel Perez Hernandez, Winnie W. Pong, Zhihong Chen, Dolores Hambardzumyan, Vincent Magrini, Amy Ly, Jason Walker, Elaine Mardis, Philipp Mertins, Sascha Sauer, Helmut Kettenmann and David H. Gutmann

Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is cau...

Authors: Gemma Gomez-Giro, Jonathan Arias-Fuenzalida, Javier Jarazo, Dagmar Zeuschner, Muhammad Ali, Nina Possemis, Silvia Bolognin, Rashi Halder, Christian Jäger, Willemijn F. E. Kuper, Peter M. van Hasselt, Holm Zaehres, Antonio del Sol, Herman van der Putten, Hans R. Schöler and Jens C. Schwamborn

α-Synuclein conformational strains spread, seed and target neuronal cells differentially after injection into the olfactory bulb

Alpha-synuclein inclusions, the hallmarks of synucleinopathies, are suggested to spread along neuronal connections in a stereotypical pattern in the brains of patients. Ample evidence now supports that patholo...

Authors: Nolwen L. Rey, Luc Bousset, Sonia George, Zachary Madaj, Lindsay Meyerdirk, Emily Schulz, Jennifer A. Steiner, Ronald Melki and Patrik Brundin

Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia

Authors: Aurore Siegfried, Julien Masliah-Planchon, Franck-Emmanuel Roux, Delphine Larrieu-Ciron, Gaelle Pierron, Yvan Nicaise, Marion Gambart, Isabelle Catalaa, Sarah Péricart, Charlotte Dubucs, Badreddine Mohand-Oumoussa, Franck Tirode, Franck Bourdeaut and Emmanuelle Uro-Coste

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

Synucleinopathies are mostly sporadic neurodegenerative disorders of partly unexplained aetiology, and include Parkinson’s disease (PD) and multiple system atrophy (MSA). We have further investigated our recen...

Authors: Diego Perez-Rodriguez, Maria Kalyva, Melissa Leija-Salazar, Tammaryn Lashley, Maxime Tarabichi, Viorica Chelban, Steve Gentleman, Lucia Schottlaender, Hannah Franklin, George Vasmatzis, Henry Houlden, Anthony H. V. Schapira, Thomas T. Warner, Janice L. Holton, Zane Jaunmuktane and Christos Proukakis

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause f...

Authors: Andrew E. Arrant, Jonathan R. Roth, Nicholas R. Boyle, Shreya N. Kashyap, Madelyn Q. Hoffmann, Charles F. Murchison, Eliana Marisa Ramos, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, Bruce L. Miller, William W. Seeley and Erik D. Roberson

Sleep deprivation of rats increases postsurgical expression and activity of L-type calcium channel in the dorsal root ganglion and slows recovery from postsurgical pain

Perioperative sleep disturbance is a risk factor for persistent pain after surgery. Clinical studies have shown that patients with insufficient sleep before and after surgery experience more intense and long-l...

Authors: Qi Li, Zi-yu Zhu, Jian Lu, Yu-Chieh Chao, Xiao-xin Zhou, Ying Huang, Xue-mei Chen, Dian-san Su, Wei-feng Yu and Xi-yao Gu

Triiodothyronine modulates neuronal plasticity mechanisms to enhance functional outcome after stroke

The development of new therapeutic approaches for stroke patients requires a detailed understanding of the mechanisms that enhance recovery of lost neurological functions. The efficacy to enhance homeostatic m...

Authors: Daniela Talhada, Joana Feiteiro, Ana Raquel Costa, Tiago Talhada, Elisa Cairrão, Tadeusz Wieloch, Elisabet Englund, Cecília Reis Santos, Isabel Gonçalves and Karsten Ruscher

Characterization of lysosomal proteins Progranulin and Prosaposin and their interactions in Alzheimer’s disease and aged brains: increased levels correlate with neuropathology

Progranulin (PGRN) is a protein encoded by the GRN gene with multiple identified functions including as a neurotrophic factor, tumorigenic growth factor, anti-inflammatory cytokine and regulator of lysosomal f...

Authors: Anarmaa Mendsaikhan, Ikuo Tooyama, Jean-Pierre Bellier, Geidy E. Serrano, Lucia I. Sue, Lih-Fen Lue, Thomas G. Beach and Douglas G. Walker

Comparative profiling of the synaptic proteome from Alzheimer’s disease patients with focus on the APOE genotype

Degeneration of synapses in Alzheimer’s disease (AD) strongly correlates with cognitive decline, and synaptic pathology contributes to disease pathophysiology. We recently observed that the strongest genetic r...

Authors: Raphael Hesse, Maica Llavero Hurtado, Rosemary J. Jackson, Samantha L. Eaton, Abigail G. Herrmann, Marti Colom-Cadena, Makis Tzioras, Declan King, Jamie Rose, Jane Tulloch, Chris-Anne McKenzie, Colin Smith, Christopher M. Henstridge, Douglas Lamont, Thomas M. Wishart and Tara L. Spires-Jones

Organotypic slice culture model demonstrates inter-neuronal spreading of alpha-synuclein aggregates

Here we describe the use of an organotypic hippocampal slice model for studying α-synuclein aggregation and inter-neuronal spreading initiated by microinjection of pre-formed α-synuclein fibrils (PFFs). PFF in...

Authors: Sara Elfarrash, Nanna Møller Jensen, Nelson Ferreira, Cristine Betzer, Jervis Vermal Thevathasan, Robin Diekmann, Mohamed Adel, Nisreen Mansour Omar, Mohamed Z. Boraie, Sabry Gad, Jonas Ries, Deniz Kirik, Sadegh Nabavi and Poul Henning Jensen

Polarizing receptor activation dissociates fibroblast growth factor 2 mediated inhibition of myelination from its neuroprotective potential

Fibroblast growth factor (FGF) signaling contributes to failure of remyelination in multiple sclerosis, but targeting this therapeutically is complicated by its functional pleiotropy. We now identify FGF2 as a...

Authors: Katja Thümmler, Eran Rom, Thomas Zeis, Maren Lindner, Sarah Brunner, John J. Cole, Diana Arseni, Steve Mücklisch, Julia M. Edgar, Nicole Schaeren-Wiemers, Avner Yayon and Christopher Linington

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Congenital myopathies (CM) form a genetically heterogeneous group of disorders characterized by perinatal muscle weakness. Here, we report an 11-year old male offspring of consanguineous parents of Lebanese or...

Authors: Hormos Salimi Dafsari, Nur Mehpare Kocaturk, Hülya-Sevcan Daimagüler, Anna Brunn, Jörg Dötsch, Joachim Weis, Martina Deckert and Sebahattin Cirak

Methylene blue inhibits Caspase-6 activity, and reverses Caspase-6-induced cognitive impairment and neuroinflammation in aged mice

Activated Caspase-6 (Casp6) is associated with age-dependent cognitive impairment and Alzheimer disease (AD). Mice expressing human Caspase-6 in hippocampal CA1 neurons develop age-dependent cognitive deficits...

Authors: Libin Zhou, Joseph Flores, Anastasia Noël, Olivier Beauchet, P. Jesper Sjöström and Andrea C. LeBlanc

Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain

Hexanucleotide repeat expansions of variable size in C9orf72 are the most prevalent genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Sense and antisense transcripts of the expansions ar...

Authors: Javier Morón-Oset, Tessa Supèr, Jacqueline Esser, Adrian M. Isaacs, Sebastian Grönke and Linda Partridge

Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson’s disease (PD), especially in patients diagnosed with progres...

Authors: Margarita Chumarina, Kaspar Russ, Carla Azevedo, Andreas Heuer, Maria Pihl, Anna Collin, Eleonor Åsander Frostner, Eskil Elmer, Poul Hyttel, Graziella Cappelletti, Michela Zini, Stefano Goldwurm and Laurent Roybon

Tau pathology in the medial temporal lobe of athletes with chronic traumatic encephalopathy: a chronic effects of neurotrauma consortium study

Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative condition associated with repetitive traumatic brain injury (rTBI) seen in contact-sport athletes and military personnel. The medial te...

Authors: Christy M. Kelley, Sylvia E. Perez and Elliott J. Mufson

Aldehyde dehydrogenase 2 activity and aldehydic load contribute to neuroinflammation and Alzheimer’s disease related pathology

Aldehyde dehydrogenase 2 deficiency (ALDH2*2) causes facial flushing in response to alcohol consumption in approximately 560 million East Asians. Recent meta-analysis demonstrated the potential link between AL...

Authors: Amit U. Joshi, Lauren D. Van Wassenhove, Kelsey R. Logas, Paras S. Minhas, Katrin I. Andreasson, Kenneth I. Weinberg, Che-Hong Chen and Daria Mochly-Rosen

Regulation of microglial TMEM119 and P2RY12 immunoreactivity in multiple sclerosis white and grey matter lesions is dependent on their inflammatory environment

Multiple Sclerosis (MS) is the most common cause of acquired neurological disability in young adults, pathologically characterized by leukocyte infiltration of the central nervous system, demyelination of the ...

Authors: Thecla A. van Wageningen, Eva Vlaar, Gijs Kooij, Cornelis A. M. Jongenelen, Jeroen J. G. Geurts and Anne-Marie van Dam

Molecular signature of different lesion types in the brain white matter of patients with progressive multiple sclerosis

To identify pathogenetic markers and potential drivers of different lesion types in the white matter (WM) of patients with progressive multiple sclerosis (PMS), we sequenced RNA from 73 different WM areas. Com...

Authors: Maria L. Elkjaer, Tobias Frisch, Richard Reynolds, Tim Kacprowski, Mark Burton, Torben A. Kruse, Mads Thomassen, Jan Baumbach and Zsolt Illes

Magnetic resonance imaging brain atrophy assessment in primary age-related tauopathy (PART)

Alzheimer disease (AD) is a neurodegenerative disorder characterized pathologically by the accumulation of amyloid-beta (Aβ) plaques and tau neurofibrillary tangles (NFTs). Recently, primary age-related tauopa...

Authors: Miguel Quintas-Neves, Merilee A. Teylan, Lilah Besser, João Soares-Fernandes, Charles N. Mock, Walter A. Kukull, John F. Crary and Tiago Gil Oliveira

Tau- but not Aß -pathology enhances NMDAR-dependent depotentiation in AD-mouse models

Many mouse models of Alzheimer’s disease (AD) exhibit impairments in hippocampal long-term-potentiation (LTP), seemingly corroborating the strong correlation between synaptic loss and cognitive decline reporte...

Authors: Enrico Faldini, Tariq Ahmed, Luc Bueé, David Blum and Detlef Balschun

Single-nucleus chromatin accessibility reveals intratumoral epigenetic heterogeneity in IDH1 mutant gliomas

The presence of genome-wide DNA hypermethylation is a hallmark of lower grade gliomas (LGG) with isocitrate dehydrogenase (IDH) mutations. Further molecular classification of IDH mutant gliomas is defined by t...

Authors: Ruslan Al-Ali, Katharina Bauer, Jong-Whi Park, Ruba Al Abdulla, Valentina Fermi, Andreas von Deimling, Christel Herold-Mende, Jan-Philipp Mallm, Carl Herrmann, Wolfgang Wick and Şevin Turcan

Kinesin light chain-1 serine-460 phosphorylation is altered in Alzheimer’s disease and regulates axonal transport and processing of the amyloid precursor protein

Damage to axonal transport is an early pathogenic event in Alzheimer’s disease. The amyloid precursor protein (APP) is a key axonal transport cargo since disruption to APP transport promotes amyloidogenic proc...

Authors: Gábor M. Mórotz, Elizabeth B. Glennon, Jenny Greig, Dawn H. W. Lau, Nishita Bhembre, Francesca Mattedi, Nadine Muschalik, Wendy Noble, Alessio Vagnoni and Christopher C. J. Miller

The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration

CREB (cyclic AMP response element binding protein) binding protein (CBP, CREBBP) is a ubiquitously expressed transcription coactivator with intrinsic histone acetyltransferase (KAT) activity. Germline mutation...

Authors: Melanie Schoof, Michael Launspach, Dörthe Holdhof, Lynhda Nguyen, Verena Engel, Severin Filser, Finn Peters, Jana Immenschuh, Malte Hellwig, Judith Niesen, Volker Mall, Birgit Ertl-Wagner, Christian Hagel, Michael Spohn, Beat Lutz, Jan Sedlacik…

Epidemiological pathology of Aβ deposition in the ageing brain in CFAS: addition of multiple Aβ-derived measures does not improve dementia assessment using logistic regression and machine learning approaches

Aβ-amyloid deposition is a key feature of Alzheimer’s disease, but Consortium to Establish a Registry for Alzheimer's Disease (CERAD) assessment, based on neuritic plaque density, shows a limited relationships...

Authors: S. B. Wharton, D. Wang, C. Parikh, F. E. Matthews, C. Brayne and P. G. Ince