New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis

The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)

(2021) Sarah L. Boddy et al.   BMC Medicine

TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy

(2021) Rachel Atkinson et al.   Disease Models & Mechanisms

Induction of autophagy mitigates TDP-43 pathology and translational repression of neurofilament mRNAs in mouse models of ALS/FTD

(2021) Sunny Kumar et al.   Molecular Neurodegeneration

The Complexity of the cGAS-STING Pathway in CNS Pathologies

(2021) Amelia L. Fryer et al.   Frontiers in Neuroscience

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

(2021) Frances Theunissen et al.   Frontiers in Aging Neuroscience

Gut microbiome differences between amyotrophic lateral sclerosis patients and spouse controls

(2021) Vicki S. Hertzberg et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Saccharomyces boulardii ameliorates gut dysbiosis associated cognitive decline

(2021) Suparna Roy Sarkar et al.   PHYSIOLOGY & BEHAVIOR

Neuronal mitochondrial dysfunction in sporadic amyotrophic lateral sclerosis is developmentally regulated

(2021) Tanisha Singh et al.   Scientific Reports

The Gut Microbiota-Immunity Axis in ALS: A Role in Deciphering Disease Heterogeneity?

(2021) Elena Niccolai et al.   Biomedicines

Much More Than a Scaffold: Cytoskeletal Proteins in Neurological Disorders

(2020) Diana C. Muñoz-Lasso et al.   Cells

The dichotomous role of the gut microbiome in exacerbating and ameliorating neurodegenerative disorders

(2020) Urdhva Raval et al.   Expert Review of Neurotherapeutics

Role of dietary fatty acids in microglial polarization in Alzheimer’s disease

(2020) Smita Eknath Desale et al.   Journal of Neuroinflammation

Mitochondrial Dysfunction, Neurogenesis, and Epigenetics: Putative Implications for Amyotrophic Lateral Sclerosis Neurodegeneration and Treatment

(2020) Michele Longoni Calió et al.   Frontiers in Neuroscience

Loss of Tdp-43 disrupts the axonal transcriptome of motoneurons accompanied by impaired axonal translation and mitochondria function

(2020) Michael Briese et al.   Acta Neuropathologica Communications

TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS

(2020) Chien-Hsiung Yu et al.   CELL

Short-Chain Fatty Acids and Their Association with Signalling Pathways in Inflammation, Glucose and Lipid Metabolism

(2020) Jin He et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

(2020) Mercedes Prudencio et al.   JOURNAL OF CLINICAL INVESTIGATION

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

(2020) Elisabetta Zucchi et al.   Molecular Neurodegeneration

Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

(2020) Sara Saez-Atienzar et al.   NEUROLOGY

Anterograde Axonal Transport in Neuronal Homeostasis and Disease

(2020) Laurent Guillaud et al.   Frontiers in Molecular Neuroscience

PKN1 promotes synapse maturation by inhibiting mGluR-dependent silencing through neuronal glutamate transporter activation

(2020) Hiroki Yasuda et al.   Communications Biology

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response

(2019) Peng Wang et al.   PLoS Genetics

ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway

(2019) Zhiqiang Deng et al.   Autophagy

Potential roles of gut microbiome and metabolites in modulating ALS in mice

(2019) Eran Blacher et al.   NATURE

Axonal transport and neurological disease

(2019) James N. Sleigh et al.   Nature Reviews Neurology

Axonal transport defects and neurodegeneration: Molecular mechanisms and therapeutic implications

(2019) Wenting Guo et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Axonal Transport and Mitochondrial Function in Neurons

(2019) Amrita Mandal et al.   Frontiers in Cellular Neuroscience

Gut microbes and metabolites as modulators of blood-brain barrier integrity and brain health

(2019) Aimée Parker et al.   Gut Microbes

Pleiotropic Mitochondria: The Influence of Mitochondria on Neuronal Development and Disease

(2019) Vidhya Rangaraju et al.   JOURNAL OF NEUROSCIENCE

The landscape of multiscale transcriptomic networks and key regulators in Parkinson’s disease

(2019) Qian Wang et al.   Nature Communications

Prionoid Proteins in the Pathogenesis of Neurodegenerative Diseases

(2019) Cameron Wells et al.   Frontiers in Molecular Neuroscience

Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72

(2019) Noori Chai et al.   BRAIN RESEARCH

Orchestrating mitochondria in neurons: Cytoskeleton as the conductor

(2019) Carlos Cardanho‐Ramos et al.   Cytoskeleton

A mitochondrial delicacy: dynamin-related protein 1 and mitochondrial dynamics

(2018) Mason T. Breitzig et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

Internode length is reduced during myelination and remyelination by neurofilament medium phosphorylation in motor axons

(2018) Eric Villalón et al.   EXPERIMENTAL NEUROLOGY

Differential toxicity of TDP-43 isoforms depends on their sub-mitochondrial localization in neuronal cells

(2018) Illari Salvatori et al.   JOURNAL OF NEUROCHEMISTRY

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Dysregulation of human NEFM and NEFH mRNA stability by ALS-linked miRNAs

(2018) Danae Campos-Melo et al.   Molecular Brain

Parkin is a disease modifier in the mutant SOD1 mouse model of ALS

(2018) Gloria M Palomo et al.   EMBO Molecular Medicine

Parkin and PINK1 mitigate STING-induced inflammation

(2018) Danielle A. Sliter et al.   NATURE

Distinct multilevel misregulations of Parkin and PINK1 revealed in cell and animal models of TDP-43 proteinopathy

(2018) Xing Sun et al.   Cell Death & Disease

Dynamin-related protein 1: A critical protein in the pathogenesis of neural system dysfunctions and neurodegenerative diseases

(2018) Zhihao Qi et al.   JOURNAL OF CELLULAR PHYSIOLOGY

MR approaches in neurodegenerative disorders

(2018) Andrew M. Blamire   PROGRESS IN NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

(2018) Marta Simone et al.   Frontiers in Neurology

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome

(2018) Massimiliano Filosto et al.   Journal of Clinical Medicine

MiR-105 and miR-9 regulate the mRNA stability of neuronal intermediate filaments. Implications for the pathogenesis of amyotrophic lateral sclerosis (ALS)

(2018) Zachary C.E. Hawley et al.   BRAIN RESEARCH

Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway?

(2017) Bilal Khalil et al.   Neural Regeneration Research

Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

(2017) Kurt J. De Vos et al.   NEUROBIOLOGY OF DISEASE

Regulation of motor proteins, axonal transport deficits and adult-onset neurodegenerative diseases

(2017) Scott T. Brady et al.   NEUROBIOLOGY OF DISEASE

Defective axonal transport: A common pathological mechanism in inherited and acquired peripheral neuropathies

(2017) Robert Prior et al.   NEUROBIOLOGY OF DISEASE

Pathology of Neurodegenerative Diseases

(2017) Brittany N. Dugger et al.   Cold Spring Harbor Perspectives in Biology

Neurofilaments and Neurofilament Proteins in Health and Disease

(2017) Aidong Yuan et al.   Cold Spring Harbor Perspectives in Biology

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

The Crosstalk between the Gut Microbiota and Mitochondria during Exercise

(2017) Allison Clark et al.   Frontiers in Physiology

Dync1h1Mutation Causes Proprioceptive Sensory Neuron Loss and Impaired Retrograde Axonal Transport of Dorsal Root Ganglion Neurons

(2016) Jing Zhao et al.   CNS Neuroscience & Therapeutics

ALS/FTD‐associated FUS activates GSK‐3β to disrupt the VAPB–PTPIP51 interaction and ER–mitochondria associations

(2016) Radu Stoica et al.   EMBO REPORTS

Excitotoxicity in ALS: Overstimulation, or overreaction?

(2016) Anna E. King et al.   EXPERIMENTAL NEUROLOGY

The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity

(2016) Wenzhang Wang et al.   NATURE MEDICINE

Differential diagnosis of neurodegenerative diseases using structural MRI data

(2016) Juha Koikkalainen et al.   NeuroImage-Clinical

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

(2015) Daniyal Daud et al.   JOURNAL OF NEUROLOGY

Building the Neuronal Microtubule Cytoskeleton

(2015) Lukas C. Kapitein et al.   NEURON

Neuronal stathmins: A family of phosphoproteins cooperating for neuronal development, plasticity and regeneration

(2015) Stéphanie Chauvin et al.   PROGRESS IN NEUROBIOLOGY

Unique Function of Kinesin Kif5A in Localization of Mitochondria in Axons

(2014) P. D. Campbell et al.   JOURNAL OF NEUROSCIENCE

Axonal Transport: Cargo-Specific Mechanisms of Motility and Regulation

(2014) Sandra Maday et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43

(2014) Radu Stoica et al.   Nature Communications

Dynamic regulation of SCG10 in regenerating axons after injury

(2013) Jung Eun Shin et al.   EXPERIMENTAL NEUROLOGY

Altered Expression of DJ-1 and PINK1 in Sporadic ALS and in the SOD1G93AALS Mouse Model

(2013) Sarah Knippenberg et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mutations in Fis1 disrupt orderly disposal of defective mitochondria

(2013) Qinfang Shen et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

Axonal transport deficits and neurodegenerative diseases

(2013) Stéphanie Millecamps et al.   NATURE REVIEWS NEUROSCIENCE

Altered microRNA expression profile in amyotrophic lateral sclerosis: a role in the regulation of NFL mRNA levels

(2013) Danae Campos-Melo et al.   Molecular Brain

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

(2012) Joshua Hersheson et al.   ANNALS OF NEUROLOGY

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

(2012) G. M. Morotz et al.   HUMAN MOLECULAR GENETICS

Microtubule Affinity-regulating Kinase 2 (MARK2) Turns on Phosphatase and Tensin Homolog (PTEN)-induced Kinase 1 (PINK1) at Thr-313, a Mutation Site in Parkinson Disease

(2012) Dorthe Matenia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

(2012) Yoshinori Tsurusaki et al.   NEUROGENETICS

SCG10 is a JNK target in the axonal degeneration pathway

(2012) J. E. Shin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

(2012) Martin Breuss et al.   Cell Reports

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments

(2011) Vivek Swarup et al.   BRAIN

PINK1 and Parkin Target Miro for Phosphorylation and Degradation to Arrest Mitochondrial Motility

(2011) Xinnan Wang et al.   CELL

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

(2011) Kurt J. De Vos et al.   HUMAN MOLECULAR GENETICS

Lysosomal Proteolysis Inhibition Selectively Disrupts Axonal Transport of Degradative Organelles and Causes an Alzheimer's-Like Axonal Dystrophy

(2011) S. Lee et al.   JOURNAL OF NEUROSCIENCE

Mechanistic Logic Underlying the Axonal Transport of Cytosolic Proteins

(2011) David A. Scott et al.   NEURON

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

(2010) Max A. Tischfield et al.   CELL

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

(2010) Karine Poirier et al.   HUMAN MOLECULAR GENETICS

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

(2010) Ravinesh A. Kumar et al.   HUMAN MOLECULAR GENETICS

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient

(2010) Lucia Corrado et al.   NEUROBIOLOGY OF AGING

Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease

(2010) Nobutaka Hirokawa et al.   NEURON

Pink1 Forms a Multiprotein Complex with Miro and Milton, Linking Pink1 Function to Mitochondrial Trafficking†

(2009) Andreas Weihofen et al.   BIOCHEMISTRY

Walking the walk: how kinesin and dynein coordinate their steps

(2009) Arne Gennerich et al.   CURRENT OPINION IN CELL BIOLOGY

Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

(2009) Akiko Abe et al.   JOURNAL OF HUMAN GENETICS

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS

Characterization of DCTN1 genetic variability in neurodegeneration

(2009) C. Vilarino-Guell et al.   NEUROLOGY

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations

(2009) Satomi Maekawa et al.   NEUROPATHOLOGY

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin

(2008) Masanori Hiji et al.   ACTA NEUROPATHOLOGICA

Regulation of neurofilament dynamics by phosphorylation

(2008) Thomas B. Shea et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Deregulation of PKN1 activity disrupts neurofilament organisation and axonal transport

(2008) Catherine Manser et al.   FEBS LETTERS

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1)

(2008) Ryan D. Mills et al.   JOURNAL OF NEUROCHEMISTRY

Review of the Multiple Aspects of Neurofilament Functions, and their Possible Contribution to Neurodegeneration

(2008) Rodolphe Perrot et al.   MOLECULAR NEUROBIOLOGY