Articles

Different tau species lead to heterogeneous tau pathology propagation and misfolding

Tauopathies are a heterogeneous group of pathologies characterized by tau aggregation inside neurons. Most of them are sporadic but certain tauopathies rely on tau gene (MAPT) mutations. They particularly diff...

Authors: Simon Dujardin, Séverine Bégard, Raphaëlle Caillierez, Cédrick Lachaud, Sébastien Carrier, Sarah Lieger, Jose A. Gonzalez, Vincent Deramecourt, Nicole Déglon, Claude-Alain Maurage, Matthew P. Frosch, Bradley T. Hyman, Morvane Colin and Luc Buée

In vivo induction of membrane damage by β-amyloid peptide oligomers

Exposure to the β-amyloid peptide (Aβ) is toxic to neurons and other cell types, but the mechanism(s) involved are still unresolved. Synthetic Aβ oligomers can induce ion-permeable pores in synthetic membranes...

Authors: Carl Julien, Colson Tomberlin, Christine M. Roberts, Aumbreen Akram, Gretchen H. Stein, Michael A. Silverman and Christopher D. Link

The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer’s disease

Accumulating evidence demonstrating higher cerebrospinal fluid (CSF) α-synuclein (αSyn) levels and αSyn pathology in the brains of Alzheimer’s disease (AD) patients suggests that αSyn is involved in the pathop...

Authors: Daniel Twohig, Elena Rodriguez-Vieitez, Sigrid B. Sando, Guro Berge, Camilla Lauridsen, Ina Møller, Gøril R. Grøntvedt, Geir Bråthen, Kalicharan Patra, Guojun Bu, Tammie L. S. Benzinger, Celeste M. Karch, Anne Fagan, John C. Morris, Randall J. Bateman, Agneta Nordberg…

Forced turnover of aged microglia induces an intermediate phenotype but does not rebalance CNS environmental cues driving priming to immune challenge

Microglia are the resident innate immune cells of the central nervous system. Limited turnover throughout the lifespan leaves microglia susceptible to age-associated dysfunction. Indeed, we and others have rep...

Authors: Shane M. O’Neil, Kristina G. Witcher, Daniel B. McKim and Jonathan P. Godbout

Endothelial damage, vascular bagging and remodeling of the microvascular bed in human microangiopathy with deep white matter lesions

White matter lesions (WMLs) are a common manifestation of small vessel disease (SVD) in the elderly population. They are associated with an enhanced risk of developing gait abnormalities, poor executive functi...

Authors: Karin M. E. Forsberg, Yingshuang Zhang, Johanna Reiners, Martina Ander, Alexandra Niedermayer, Lubin Fang, Hermann Neugebauer, Jan Kassubek, Istvan Katona, Joachim Weis, Albert C. Ludolph, Kelly Del Tredici, Heiko Braak and Deniz Yilmazer-Hanke

Tonic ATP-mediated growth suppression in peripheral nerve glia requires arrestin-PP2 and is evaded in NF1

Normal Schwann cells (SCs) are quiescent in adult nerves, when ATP is released from the nerve in an activity dependent manner. We find that suppressing nerve activity in adult nerves causes SC to enter the cel...

Authors: Robert A. Coover, Tabitha E. Healy, Li Guo, Katherine E. Chaney, Robert F. Hennigan, Craig S. Thomson, Lindsey E. Aschbacher-Smith, Michael P. Jankowski and Nancy Ratner

Clinical evaluation of a dedicated next generation sequencing panel for routine glioma diagnostics

Since 2013 next-generation sequencing (NGS) targeting genes mutated in diffuse gliomas is part of routine diagnostics in our institute. In the present report, we evaluate the use of this custom tailored NGS pl...

Authors: Nathalie E. Synhaeve, Martin J. van den Bent, Pim J. French, Winand N. M. Dinjens, Peggy N. Atmodimedjo, Johan M. Kros, R. Verdijk, Clemens M. F. Dirven and Hendrikus J. Dubbink

Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features

A hexanucleotide repeat expansion (HRE) within the chromosome 9 open reading frame 72 (C9orf72) gene is the most prevalent cause of amyotrophic lateral sclerosis/fronto-temporal dementia (ALS/FTD). Current eviden...

Authors: Matthew P. Shaw, Adrian Higginbottom, Alexander McGown, Lydia M. Castelli, Evlyn James, Guillaume M. Hautbergue, Pamela J. Shaw and Tennore M. Ramesh

The physiology of foamy phagocytes in multiple sclerosis

Multiple sclerosis (MS) is a chronic disease of the central nervous system characterized by massive infiltration of immune cells, demyelination, and axonal loss. Active MS lesions mainly consist of macrophages...

Authors: Elien Grajchen, Jerome J. A. Hendriks and Jeroen F. J. Bogie

SETD2 mutations in primary central nervous system tumors

Mutations in SETD2 are found in many tumors, including central nervous system (CNS) tumors. Previous work has shown these mutations occur specifically in high grade gliomas of the cerebral hemispheres in pediatri...

Authors: Angela N. Viaene, Mariarita Santi, Jason Rosenbaum, Marilyn M. Li, Lea F. Surrey and MacLean P. Nasrallah

Mutant UBQLN2^P497H in motor neurons leads to ALS-like phenotypes and defective autophagy in rats

Mutations in ubiquilin2 (UBQLN2) have been linked to abnormal protein aggregation in amyotrophic lateral sclerosis (ALS). The mechanisms underlying UBQLN2-related neurodegenerative diseases remain unclear. Usi...

Authors: Tianhong Chen, Bo Huang, Xinglong Shi, Limo Gao and Cao Huang

Decoding the synaptic dysfunction of bioactive human AD brain soluble Aβ to inspire novel therapeutic avenues for Alzheimer’s disease

Pathologic, biochemical and genetic evidence indicates that accumulation and aggregation of amyloid β-proteins (Aβ) is a critical factor in the pathogenesis of Alzheimer’s disease (AD). Several therapeutic int...

Authors: Shaomin Li, Ming Jin, Lei Liu, Yifan Dang, Beth L. Ostaszewski and Dennis J. Selkoe

Nicotine promotes neuron survival and partially protects from Parkinson’s disease by suppressing SIRT6

Parkinson’s disease is characterized by progressive death of dopaminergic neurons, leading to motor and cognitive dysfunction. Epidemiological studies consistently show that the use of tobacco reduces the risk...

Authors: Justin W. Nicholatos, Adam B. Francisco, Carolyn A. Bender, Tiffany Yeh, Fraz J. Lugay, Jairo E. Salazar, Christin Glorioso and Sergiy Libert

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells ...

Authors: Gerben J. Schaaf, Tom J. M. van Gestel, Stijn L. M. in ‘t Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T. van der Ploeg and W. W. M. Pim Pijnappel

Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy

Authors: Melissa M. Blessing, Patrick R. Blackburn, Jessica R. Balcom, Chandra Krishnan, Virginia L. Harrod, Michael T. Zimmermann, Emily G. Barr Fritcher, Christopher D. Zysk, Rory A. Jackson, Asha A. Nair, Robert B. Jenkins, Kevin C. Halling, Benjamin R. Kipp and Cristiane M. Ida

Transcriptomic and epigenetic profiling of ‘diffuse midline gliomas, H3 K27M-mutant’ discriminate two subgroups based on the type of histone H3 mutated and not supratentorial or infratentorial location

Diffuse midline glioma (DMG), H3 K27M-mutant, is a new entity in the updated WHO classification grouping together diffuse intrinsic pontine gliomas and infiltrating glial neoplasms of the midline harboring the...

Authors: David Castel, Cathy Philippe, Thomas Kergrohen, Martin Sill, Jane Merlevede, Emilie Barret, Stéphanie Puget, Christian Sainte-Rose, Christof M. Kramm, Chris Jones, Pascale Varlet, Stefan M. Pfister, Jacques Grill, David T. W. Jones and Marie-Anne Debily

Variation in TMEM106B in chronic traumatic encephalopathy

The genetic basis of chronic traumatic encephalopathy (CTE) is poorly understood. Variation in transmembrane protein 106B (TMEM106B) has been associated with enhanced neuroinflammation during aging and with TDP-4...

Authors: Jonathan D. Cherry, Jesse Mez, John F. Crary, Yorghos Tripodis, Victor E. Alvarez, Ian Mahar, Bertrand R. Huber, Michael L. Alosco, Raymond Nicks, Bobak Abdolmohammadi, Patrick T. Kiernan, Laney Evers, Sarah Svirsky, Katharine Babcock, Hannah M. Gardner, Gaoyuan Meng…

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II)

Pompe disease, which is due to acid alpha-glucosidase deficiency, is characterized by skeletal muscle dysfunction attributed to the accumulation of glycogen-filled lysosomes and autophagic buildup. Despite the...

Authors: Lydie Lagalice, Julien Pichon, Eliot Gougeon, Salwa Soussi, Johan Deniaud, Mireille Ledevin, Virginie Maurier, Isabelle Leroux, Sylvie Durand, Carine Ciron, Francesca Franzoso, Laurence Dubreil, Thibaut Larcher, Karl Rouger and Marie-Anne Colle

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [¹⁸F]Flortaucipir PET

This study aimed to determine the pattern of [¹⁸F]flortaucipir uptake in individuals affected by Gerstmann-Sträussler-Scheinker disease (GSS) associated with the PRNP F198S mutation. The aims were to: 1) determin...

Authors: Shannon L. Risacher, Martin R. Farlow, Daniel R. Bateman, Francine Epperson, Eileen F. Tallman, Rose Richardson, Jill R. Murrell, Frederick W. Unverzagt, Liana G. Apostolova, Jose M. Bonnin, Bernardino Ghetti and Andrew J. Saykin

Formation of Toxic Oligomeric Assemblies of RNA-binding Protein: Musashi in Alzheimer’s disease

Alzheimer’s disease (AD) is the most common neurodegenerative disorder associated with structural and functional alterations of brain cells causing progressive deterioration of memory and other cognitive funct...

Authors: Urmi Sengupta, Mauro Montalbano, Salome McAllen, Gerard Minuesa, Michael Kharas and Rakez Kayed

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

Authors: Filippo Pinto e Vairo, Nicole Bertsch, Eric W. Klee and Ralitza H. Gavrilova

EphrinB/EphB forward signaling in Müller cells causes apoptosis of retinal ganglion cells by increasing tumor necrosis factor alpha production in rat experimental glaucomatous model

It was previously shown that EphB/ephrinB reverse signaling in retinal ganglion cells (RGCs) is activated and involved in RGC apoptosis in a rat chronic ocular hypertension (COH) model. In the present work, we...

Authors: Shu-Ting Liu, Shu-Min Zhong, Xue-Yan Li, Feng Gao, Fang Li, Meng-Lu Zhang, Ke Zhu, Xing-Huai Sun, Xin Wang, Yanying Miao, Xiong-Li Yang and Zhongfeng Wang

NMDA receptors mediate synaptic depression, but not spine loss in the dentate gyrus of adult amyloid Beta (Aβ) overexpressing mice

Amyloid beta (Aβ)-mediated synapse dysfunction and spine loss are considered to be early events in Alzheimer’s disease (AD) pathogenesis. N-methyl-D-aspartate receptors (NMDARs) have previously been suggested to ...

Authors: Michaela Kerstin Müller, Eric Jacobi, Kenji Sakimura, Roberto Malinow and Jakob von Engelhardt

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Extreme microcephaly and rhombencephalosynapsis represent unusual pathological conditions, each of which occurs in isolation or in association with various other cerebral and or extracerebral anomalies. Unlike...

Authors: Myriam Vezain, Matthieu Lecuyer, Marina Rubio, Valérie Dupé, Leslie Ratié, Véronique David, Laurent Pasquier, Sylvie Odent, Sophie Coutant, Isabelle Tournier, Laetitia Trestard, Homa Adle-Biassette, Denis Vivien, Thierry Frébourg, Bruno J Gonzalez, Annie Laquerrière…

Glycoprotein NMB: a novel Alzheimer’s disease associated marker expressed in a subset of activated microglia

Alzheimer’s disease (AD) is an irreversible, devastating neurodegenerative brain disorder characterized by the loss of neurons and subsequent cognitive decline. Despite considerable progress in the understandi...

Authors: Melanie Hüttenrauch, Isabella Ogorek, Hans Klafki, Markus Otto, Christine Stadelmann, Sascha Weggen, Jens Wiltfang and Oliver Wirths

Expression of renal cell markers and detection of 3p loss links endolymphatic sac tumor to renal cell carcinoma and warrants careful evaluation to avoid diagnostic pitfalls

Endolymphatic sac tumor (ELST) is a rare neoplasm arising in the temporal petrous region thought to originate from endolymphatic sac epithelium. It may arise sporadically or in association with Von-Hippel-Lind...

Authors: Rachel Jester, Iya Znoyko, Maria Garnovskaya, Joseph N Rozier, Ryan Kegl, Sunil Patel, Tuan Tran, Malak Abedalthagafi, Craig M Horbinski, Mary Richardson, Daynna J Wolff, Razvan Lapadat, William Moore, Fausto J Rodriguez, Jason Mull and Adriana Olar

TERT promoter wild-type glioblastomas show distinct clinical features and frequent PI3K pathway mutations

TERT promoter (TERTp) mutations are found in the majority of World Health Organization (WHO) grade IV adult IDH wild-type glioblastoma (IDH-wt GBM). Here, we characterized the subset of IDH-wt GBMs that do not ha...

Authors: Erik A. Williams, Julie J. Miller, Shilpa S. Tummala, Tristan Penson, A. John Iafrate, Tareq A. Juratli and Daniel P. Cahill

Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations

Leucine-rich repeat kinase 2 (LRRK2) is the most common causative gene for autosomal dominant Parkinson’s disease (PD) and is also known to be a susceptibility gene for sporadic PD. Although clinical symptoms wit...

Authors: Masashi Takanashi, Manabu Funayama, Eiji Matsuura, Hiroyo Yoshino, Yuanzhe Li, Sho Tsuyama, Hiroshi Takashima, Kenya Nishioka and Nobutaka Hattori

Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease

Astrocyte reactivity and neuroinflammation are hallmarks of CNS pathological conditions such as Alzheimer’s disease. However, the specific role of reactive astrocytes is still debated. This controversy may ste...

Authors: Kelly Ceyzériat, Lucile Ben Haim, Audrey Denizot, Dylan Pommier, Marco Matos, Océane Guillemaud, Marie-Ange Palomares, Laurene Abjean, Fanny Petit, Pauline Gipchtein, Marie-Claude Gaillard, Martine Guillermier, Sueva Bernier, Mylène Gaudin, Gwenaëlle Aurégan, Charlène Joséphine…

Pharmacological inhibition of HDAC6 reverses cognitive impairment and tau pathology as a result of cisplatin treatment

Chemotherapy-induced cognitive impairment (CICI) is a commonly reported neurotoxic side effect of chemotherapy, occurring in up to 75% cancer patients. CICI manifests as decrements in working memory, executive...

Authors: Jiacheng Ma, XiaoJiao Huo, Matthew B. Jarpe, Annemieke Kavelaars and Cobi J. Heijnen

Alterations in mitochondria-endoplasmic reticulum connectivity in human brain biopsies from idiopathic normal pressure hydrocephalus patients

Idiopathic normal pressure hydrocephalus (iNPH) is a neuropathology with unknown cause characterised by gait impairment, cognitive decline and ventriculomegaly. These patients often present comorbidity with Al...

Authors: Nuno Santos Leal, Giacomo Dentoni, Bernadette Schreiner, Olli-Pekka Kämäräinen, Nelli Partanen, Sanna-Kaisa Herukka, Anne M Koivisto, Mikko Hiltunen, Tuomas Rauramaa, Ville Leinonen and Maria Ankarcrona

Tectal glioma as a distinct diagnostic entity: a comprehensive clinical, imaging, histologic and molecular analysis

Tectal glioma (TG) is a rare low-grade tumor occurring predominantly in the pediatric population. There has been no detailed analysis of molecular alterations in TG. Risk factors associated with inferior outco...

Authors: Anthony P. Y. Liu, Julie H. Harreld, Lisa M. Jacola, Madelyn Gero, Sahaja Acharya, Yahya Ghazwani, Shengjie Wu, Xiaoyu Li, Paul Klimo Jr, Amar Gajjar, Jason Chiang and Ibrahim Qaddoumi

Alzheimer’s associated amyloid and tau deposition co-localizes with a homeostatic myelin repair pathway in two mouse models of post-stroke mixed dementia

The goal of this study was to determine the chronic impact of stroke on the manifestation of Alzheimer’s disease (AD) related pathology and behavioral impairments in mice. To accomplish this goal, we used two ...

Authors: Thuy-Vi V. Nguyen, Megan Hayes, Jacob C. Zbesko, Jennifer B. Frye, Nicole R. Congrove, Nadia P. Belichenko, Brian S. McKay, Frank M. Longo and Kristian P. Doyle

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

Spinocerebellar ataxia type 14 (SCA14) is a subtype of the autosomal dominant cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and neurodegeneration. SCA14 is caused by mut...

Authors: Maggie M. K. Wong, Stephanie D. Hoekstra, Jane Vowles, Lauren M. Watson, Geraint Fuller, Andrea H. Németh, Sally A. Cowley, Olaf Ansorge, Kevin Talbot and Esther B. E. Becker

The susceptibility of cochlear outer hair cells to cyclodextrin is not related to their electromotile activity

Niemann-Pick Type C1 (NPC1) disease is a fatal neurovisceral disorder caused by dysfunction of NPC1 protein, which plays a role in intracellular cholesterol trafficking. The cholesterol-chelating agent, 2-hydr...

Authors: Yingjie Zhou, Satoe Takahashi, Kazuaki Homma, Chongwen Duan, Jason Zheng, Mary Ann Cheatham and Jing Zheng

Correction to: preserving prion strain identity upon replication of prions in vitro using recombinant prion protein

Figure 6 of the original publication [1] contained an error in the Wavenumber in panels B and C. The wavenumbers 1616 (Cm-1) in panels B and C should have been 1516 (cm-1). The updated figure has been publishe...

Authors: Natallia Makarava, Regina Savtchenko, Peter Lasch, Michael Beekes and Ilia V Baskakov

Rapid dissemination of alpha-synuclein seeds through neural circuits in an in-vivo prion-like seeding experiment

Accumulating evidence suggests that the lesions of Parkinson’s disease (PD) expand due to transneuronal spreading of fibrils composed of misfolded alpha-synuclein (a-syn), over the course of 5–10 years. Howeve...

Authors: Ayami Okuzumi, Masaru Kurosawa, Taku Hatano, Masashi Takanashi, Shuuko Nojiri, Takeshi Fukuhara, Tomoyuki Yamanaka, Haruko Miyazaki, Saki Yoshinaga, Yoshiaki Furukawa, Tomomi Shimogori, Nobutaka Hattori and Nobuyuki Nukina

Oligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts

Authors: Julieann Lee, Angelica R. Putnam, Samuel H. Chesier, Anuradha Banerjee, Corey Raffel, Jessica Van Ziffle, Courtney Onodera, James P. Grenert, Boris C. Bastian, Arie Perry and David A. Solomon

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Authors: Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero and Giovanni Antonini

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Authors: Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors and Jocelyn Laporte

Preserving prion strain identity upon replication of prions in vitro using recombinant prion protein

Last decade witnessed an enormous progress in generating authentic infectious prions or PrP^Sc in vitro using recombinant prion protein (rPrP). Previous work established that rPrP that lacks posttranslational modi...

Authors: Natallia Makarava, Regina Savtchenko, Peter Lasch, Michael Beekes and Ilia V. Baskakov

The complement system in glioblastoma multiforme

The human complement system is represents the main effector arm of innate immunity and its ambivalent function in cancer has been subject of ongoing dispute. Glioma stem-like cells (GSC) residing in specific n...

Authors: T. A. M. Bouwens van der Vlis, J. M. Kros, D. A. M. Mustafa, R. T. A. van Wijck, L. Ackermans, P. M. van Hagen and P. J. van der Spek

Degeneration of human photosensitive retinal ganglion cells may explain sleep and circadian rhythms disorders in Parkinson’s disease

Parkinson’s disease (PD) patients often suffer from non-motor symptoms like sleep dysregulation, mood disturbances or circadian rhythms dysfunction. The melanopsin-containing retinal ganglion cells are involve...

Authors: Isabel Ortuño-Lizarán, Gema Esquiva, Thomas G. Beach, Geidy E. Serrano, Charles H. Adler, Pedro Lax and Nicolás Cuenca

Somatostatin receptor 2A protein expression characterizes anaplastic oligodendrogliomas with favorable outcome

Diffuse gliomas are classified according to the 2016 WHO Classification of Tumors of the Central Nervous System, which now defines entities by both histology and molecular features. Somatostatin receptor subty...

Authors: Romain Appay, Emeline Tabouret, Mehdi Touat, Catherine Carpentier, Carole Colin, François Ducray, Ahmed Idbaih, Karima Mokhtari, Emmanuelle Uro-Coste, Caroline Dehais and Dominique Figarella-Branger

Systemic infection modifies the neuroinflammatory response in late stage Alzheimer’s disease

Clinical studies indicate that systemic infections accelerate cognitive decline in Alzheimer’s disease. Animal models suggest that this may be due to enhanced pro-inflammatory changes in the brain. We have per...

Authors: Sonja Rakic, Yat M. A. Hung, Matthew Smith, Denise So, Hannah M. Tayler, William Varney, Joe Wild, Scott Harris, Clive Holmes, Seth Love, William Stewart, James A. R. Nicoll and Delphine Boche

Unique microglia recovery population revealed by single-cell RNAseq following neurodegeneration

Microglia are brain immune cells that constantly survey their environment to maintain homeostasis. Enhanced microglial reactivity and proliferation are typical hallmarks of neurodegenerative diseases. Whether ...

Authors: Tuan Leng Tay, Sagar, Jana Dautzenberg, Dominic Grün and Marco Prinz

Hypoxic pre-conditioning suppresses experimental autoimmune encephalomyelitis by modifying multiple properties of blood vessels

While hypoxic pre-conditioning protects against neurological disease the underlying mechanisms have yet to be fully defined. As chronic mild hypoxia (CMH, 10% O₂) triggers profound vascular remodeling in the cent...

Authors: Sebok K. Halder, Ravi Kant and Richard Milner

Analysis of cerebrospinal fluid metabolites in patients with primary or metastatic central nervous system tumors

Cancer cells have altered cellular metabolism. Mutations in genes associated with key metabolic pathways (e.g., isocitrate dehydrogenase 1 and 2, IDH1/IDH2) are important drivers of cancer, including central nerv...

Authors: Leomar Y. Ballester, Guangrong Lu, Soheil Zorofchian, Venkatrao Vantaku, Vasanta Putluri, Yuanqing Yan, Octavio Arevalo, Ping Zhu, Roy F. Riascos, Arun Sreekumar, Yoshua Esquenazi, Nagireddy Putluri and Jay-Jiguang Zhu

Nuclear poly(ADP-ribose) activity is a therapeutic target in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a devastating and fatal motor neuron disease. Diagnosis typically occurs in the fifth decade of life and the disease progresses rapidly leading to death within ~ 2–5 year...

Authors: L. McGurk, J. Mojsilovic-Petrovic, V. M. Van Deerlin, J. Shorter, R. G. Kalb, V. M. Lee, J. Q. Trojanowski, E. B. Lee and N. M. Bonini

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

Authors: Haicui Wang, Anne Schänzer, Birgit Kampschulte, Hülya-Sevcan Daimagüler, Thushiha Logeswaran, Hannah Schlierbach, Jutta Petzinger, Harald Ehrhardt, Andreas Hahn and Sebahattin Cirak