Nuclear pore complex and nucleocytoplasmic transport disruption in neurodegeneration

A quantitative map of nuclear pore assembly reveals two distinct mechanisms

(2023) Shotaro Otsuka et al.   NATURE

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

(2023) Salim Megat et al.   Nature Communications

Depletion of ESCRT ameliorates APP‐induced AD‐like symptoms in Drosophila

(2023) Luming Zhuang et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Interactions between FUS and the C-terminal Domain of Nup62 are Sufficient for their Co-phase Separation into Amorphous Assemblies

(2023) Meenakshi Sundaram Kumar et al.   JOURNAL OF MOLECULAR BIOLOGY

Toxicity ofC9orf72-associated dipeptide repeat peptides is modified by commonly used protein tags

(2023) Javier Morón-Oset et al.   Life Science Alliance

Karyopherin-mediated nucleocytoplasmic transport

(2022) Casey E. Wing et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Degradation of nuclear components via different autophagy pathways

(2022) Ziyang Li et al.   TRENDS IN CELL BIOLOGY

Biochemical characterization of actin assembly mechanisms with ALS-associated profilin variants

(2022) Xinbei Liu et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Nuclear pore complexes — a doorway to neural injury in neurodegeneration

(2022) Alyssa N. Coyne et al.   Nature Reviews Neurology

NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

(2022) Amanda M. Gleixner et al.   Nature Communications

Quality control mechanisms that protect nuclear envelope identity and function

(2022) Philip J. Mannino et al.   JOURNAL OF CELL BIOLOGY

Disruption of nuclear envelope integrity as a possible initiating event in tauopathies

(2022) Marine Prissette et al.   Cell Reports

Nucleoporins are degraded via upregulation of ESCRT-III/Vps4 complex in Drosophila models of C9-ALS/FTD

(2022) Sandeep Kumar Dubey et al.   Cell Reports

Nuclear import receptors are recruited by FG-nucleoporins to rescue hallmarks of TDP-43 proteinopathy

(2022) Bilal Khalil et al.   Molecular Neurodegeneration

Dysfunctional Autophagy and Endolysosomal System in Neurodegenerative Diseases: Relevance and Therapeutic Options

(2021) Silvia Giovedì et al.   Frontiers in Cellular Neuroscience

A nuclear export sequence in Nup214 promotes CRM1-dependent targeting of the nucleoporin to the nuclear pore complex

(2021) Mohamed Hamed et al.   JOURNAL OF CELL SCIENCE

LINC complex regulation of genome organization and function

(2021) Xianrong Wong et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Non-neuronal cells in amyotrophic lateral sclerosis — from pathogenesis to biomarkers

(2021) Björn F. Vahsen et al.   Nature Reviews Neurology

Karyopherin abnormalities in neurodegenerative proteinopathies

(2021) Terouz Pasha et al.   BRAIN

Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway

(2021) Yen-Chen Lin et al.   NATURE NEUROSCIENCE

ALS-linked PFN1 variants exhibit loss and gain of functions in the context of formin-induced actin polymerization

(2021) Eric J. Schmidt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

(2021) Alyssa N. Coyne et al.   Science Translational Medicine

The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei

(2021) Alyssa N. Coyne et al.   Acta Neuropathologica Communications

CHMP2B regulates TDP-43 phosphorylation and cytotoxicity independent of autophagy via CK1

(2021) Xue Deng et al.   JOURNAL OF CELL BIOLOGY

Dunking into the Lipid Bilayer: How Direct Membrane Binding of Nucleoporins Can Contribute to Nuclear Pore Complex Structure and Assembly

(2021) Mohamed Hamed et al.   Cells

Poor old pores—The challenge of making and maintaining nuclear pore complexes in aging

(2020) Irina L. Rempel et al.   FEBS Journal

Selective autophagy degrades nuclear pore complexes

(2020) Chia-Wei Lee et al.   NATURE CELL BIOLOGY

C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import

(2020) Lindsey R Hayes et al.   eLife

Nuclear envelope dysfunction and its contribution to the aging process

(2020) Filipa Martins et al.   AGING CELL

The role of the cell nucleus in mechanotransduction

(2020) Cátia S. Janota et al.   CURRENT OPINION IN CELL BIOLOGY

Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure

(2020) Lauren Penfield et al.   JOURNAL OF CELL BIOLOGY

LEM2 phase separation promotes ESCRT-mediated nuclear envelope reformation

(2020) Alexander von Appen et al.   NATURE

Amyotrophic lateral sclerosis: a clinical review

(2020) P. Masrori et al.   EUROPEAN JOURNAL OF NEUROLOGY

Unrestrained ESCRT-III drives micronuclear catastrophe and chromosome fragmentation

(2020) Marina Vietri et al.   NATURE CELL BIOLOGY

G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

(2020) Alyssa N. Coyne et al.   NEURON

Molecular determinants of large cargo transport into the nucleus

(2020) Giulia Paci et al.   eLife

Structural and Mechanical Aberrations of the Nuclear Lamina in Disease

(2020) Merel Stiekema et al.   Cells

Protein structural and mechanistic basis of progeroid laminopathies

(2020) Agathe Marcelot et al.   FEBS Journal

In-cell architecture of the nuclear pore and snapshots of its turnover

(2020) Matteo Allegretti et al.   NATURE

Dissecting the Structural Dynamics of the Nuclear Pore Complex

(2020) Zhanna Hakhverdyan et al.   MOLECULAR CELL

Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis

(2020) Chris Ugbode et al.   NEUROBIOLOGY OF DISEASE

Nuclear Import Receptors Directly Bind to Arginine-Rich Dipeptide Repeat Proteins and Suppress Their Pathological Interactions

(2020) Saskia Hutten et al.   Cell Reports

Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia

(2019) Francesco Paonessa et al.   Cell Reports

Deciphering Nuclear Mechanobiology in Laminopathy

(2019) Jungwon Hah et al.   Cells

Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death

(2019) Fatima Gasset-Rosa et al.   NEURON

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

(2019) Jeannie Chew et al.   Molecular Neurodegeneration

The Structure of the Nuclear Pore Complex (An Update)

(2019) Daniel H. Lin et al.   Annual Review of Biochemistry

Structure and Assembly of the Nuclear Pore Complex

(2019) Bernhard Hampoelz et al.   Annual Review of Biophysics

An ESCRT-LEM protein surveillance system is poised to directly monitor the nuclear envelope and nuclear transport system

(2019) David J Thaller et al.   eLife

Age-dependent deterioration of nuclear pore assembly in mitotic cells decreases transport dynamics

(2019) Irina L Rempel et al.   eLife

The neuropathological diagnosis of Alzheimer’s disease

(2019) Michael A. DeTure et al.   Molecular Neurodegeneration

The many functions of ESCRTs

(2019) Marina Vietri et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis

(2019) Anthony Giampetruzzi et al.   Nature Communications

C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport

(2019) Joni Vanneste et al.   Scientific Reports

Autophagic and endo-lysosomal dysfunction in neurodegenerative disease

(2019) Bilal R. Malik et al.   Molecular Brain

Nuclear Import Receptor Inhibits Phase Separation of FUS through Binding to Multiple Sites

(2018) Takuya Yoshizawa et al.   CELL

Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation

(2018) Mario Hofweber et al.   CELL

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains

(2018) Lin Guo et al.   CELL

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

Endosomal sorting complexes required for ESCRTing cells toward death during neurogenesis, neurodevelopment and neurodegeneration

(2018) Zenia Kaul et al.   TRAFFIC

Nuclear Lamins: Thin Filaments with Major Functions

(2018) Rebecca de Leeuw et al.   TRENDS IN CELL BIOLOGY

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

(2018) Daniel A Solomon et al.   BRAIN

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer’s Disease

(2018) Bahareh Eftekharzadeh et al.   NEURON

Mitochondria, ER, and nuclear membrane defects reveal early mechanisms for upper motor neuron vulnerability with respect to TDP-43 pathology

(2018) Mukesh Gautam et al.   ACTA NEUROPATHOLOGICA

Tau-induced nuclear envelope invagination causes a toxic accumulation of mRNA in Drosophila

(2018) Garrett L. Cornelison et al.   AGING CELL

Structures, Functions, and Dynamics of ESCRT-III/Vps4 Membrane Remodeling and Fission Complexes

(2018) John McCullough et al.   Annual Review of Cell and Developmental Biology

CC2D1B Coordinates ESCRT-III Activity during the Mitotic Reformation of the Nuclear Envelope

(2018) Leandro N. Ventimiglia et al.   DEVELOPMENTAL CELL

Visualization of long-lived proteins reveals age mosaicism within nuclei of postmitotic cells

(2018) Brandon H. Toyama et al.   JOURNAL OF CELL BIOLOGY

The cargo spectrum of nuclear transport receptors

(2018) Imke Baade et al.   CURRENT OPINION IN CELL BIOLOGY

Huntington's disease: a clinical review

(2017) P. McColgan et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mechanisms of nuclear pore complex assembly - two different ways of building one molecular machine

(2017) Shotaro Otsuka et al.   FEBS LETTERS

Landscape of nuclear transport receptor cargo specificity

(2017) Marie‐Therese Mackmull et al.   Molecular Systems Biology

Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport

(2017) Fatima Gasset-Rosa et al.   NEURON

Mutant Huntingtin Disrupts the Nuclear Pore Complex

(2017) Jonathan C. Grima et al.   NEURON

Aberrant distributions of nuclear pore complex proteins in ALS mice and ALS patients

(2017) Jingwei Shang et al.   NEUROSCIENCE

Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

(2017) Kevin Y. Shi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells

(2017) Mingyu Gu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The roles of the nuclear pore complex in cellular dysfunction, aging and disease

(2017) Stephen Sakuma et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Genetics of Amyotrophic Lateral Sclerosis

(2017) Mehdi Ghasemi et al.   Cold Spring Harbor Perspectives in Medicine

Calpain-dependent disruption of nucleo-cytoplasmic transport in ALS motor neurons

(2017) Takenari Yamashita et al.   Scientific Reports

The role of CHMP2BIntron5 in autophagy and frontotemporal dementia

(2016) Christopher S. Krasniak et al.   BRAIN RESEARCH

The Nuclear Pore Complex as a Flexible and Dynamic Gate

(2016) Kevin E. Knockenhauer et al.   CELL

Lamin Dysfunction Mediates Neurodegeneration in Tauopathies

(2016) Bess Frost et al.   CURRENT BIOLOGY

Membrane Binding by CHMP7 Coordinates ESCRT-III-Dependent Nuclear Envelope Reformation

(2016) Yolanda Olmos et al.   CURRENT BIOLOGY

Genetics of Frontotemporal Dementia

(2016) Diana A. Olszewska et al.   Current Neurology and Neuroscience Reports

Chm7 and Heh1 collaborate to link nuclear pore complex quality control with nuclear envelope sealing

(2016) Brant M Webster et al.   EMBO JOURNAL

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD

(2016) Bahram Khosravi et al.   HUMAN MOLECULAR GENETICS

Nuclear envelope rupture is induced by actin-based nucleus confinement

(2016) Emily M. Hatch et al.   JOURNAL OF CELL BIOLOGY

Simple rules for passive diffusion through the nuclear pore complex

(2016) Benjamin L. Timney et al.   JOURNAL OF CELL BIOLOGY

The LINC and NPC relationship – it's complicated!

(2016) Zeinab Jahed et al.   JOURNAL OF CELL SCIENCE

Nucleocytoplasmic Transport of RNAs and RNA–Protein Complexes

(2016) Katherine E. Sloan et al.   JOURNAL OF MOLECULAR BIOLOGY

The nuclear pore complex: understanding its function through structural insight

(2016) Martin Beck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Transport Selectivity of Nuclear Pores, Phase Separation, and Membraneless Organelles

(2016) H. Broder Schmidt et al.   TRENDS IN BIOCHEMICAL SCIENCES

ESCRT-0 dysfunction compromises autophagic degradation of protein aggregates and facilitates ER stress-mediated neurodegeneration via apoptotic and necroptotic pathways

(2016) Ryuji Oshima et al.   Scientific Reports

Nuclear pore assembly proceeds by an inside-out extrusion of the nuclear envelope

(2016) Shotaro Otsuka et al.   eLife

The selective permeability barrier in the nuclear pore complex

(2016) Christina Li et al.   Nucleus

The selective permeability barrier in the nuclear pore complex

(2016) Christina Li et al.   Nucleus

The role of the nuclear pore complex in aging of post-mitotic cells

(2016) Martin W. Hetzer   Aging-US

Energetics of Transport through the Nuclear Pore Complex

(2016) Ali Ghavami et al.   PLoS One

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

(2015) Emma L. Clayton et al.   ACTA NEUROPATHOLOGICA

Accessorizing and anchoring the LINC complex for multifunctionality

(2015) Wakam Chang et al.   JOURNAL OF CELL BIOLOGY

The nuclear pore complex - structure and function at a glance

(2015) G. Kabachinski et al.   JOURNAL OF CELL SCIENCE

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

Size-dependent leak of soluble and membrane proteins through the yeast nuclear pore complex

(2015) Petra Popken et al.   MOLECULAR BIOLOGY OF THE CELL

The Role of TDP-43 in Alzheimer’s Disease

(2015) Xiao-Long Chang et al.   MOLECULAR NEUROBIOLOGY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing

(2015) Marina Vietri et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

RAN Translation in Huntington Disease

(2015) Monica Bañez-Coronel et al.   NEURON

Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA

(2015) A. C. Woerner et al.   SCIENCE

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

(2015) Fabian Hosp et al.   Cell Reports

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

(2015) Jorge Gomez-Deza et al.   Acta Neuropathologica Communications

Surveillance of Nuclear Pore Complex Assembly by ESCRT-III/Vps4

(2014) Brant M. Webster et al.   CELL

Components and regulation of nuclear transport processes

(2014) Bastien Cautain et al.   FEBS Journal

Disruption of the nuclear membrane by perinuclear inclusions of mutant huntingtin causes cell-cycle re-entry and striatal cell death in mouse and cell models of Huntington's disease

(2014) Kuan-Yu Liu et al.   HUMAN MOLECULAR GENETICS

Tau promotes neurodegeneration through global chromatin relaxation

(2014) Bess Frost et al.   NATURE NEUROSCIENCE

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2014) Yvonne S Davidson et al.   Acta Neuropathologica Communications

The neuropathology associated with repeat expansions in the C9ORF72 gene

(2013) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Identification of Long-Lived Proteins Reveals Exceptional Stability of Essential Cellular Structures

(2013) Brandon H. Toyama et al.   CELL

Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders

(2013) Mani Ramaswami et al.   CELL

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2013) David MA Mann et al.   Acta Neuropathologica Communications

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

(2012) Shabnam Ghazi-Noori et al.   BRAIN

The ESCRT machinery

(2012) Oliver Schmidt et al.   CURRENT BIOLOGY

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Nuclear pore complex composition: a new regulator of tissue-specific and developmental functions

(2012) Marcela Raices et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Extremely Long-Lived Nuclear Pore Proteins in the Rat Brain

(2012) J. N. Savas et al.   SCIENCE

Phosphorylation of Nup98 by Multiple Kinases Is Crucial for NPC Disassembly during Mitotic Entry

(2011) Eva Laurell et al.   CELL

FTD and ALS: A Tale of Two Diseases

(2011) R. Ferrari et al.   Current Alzheimer Research

Nuclear lamins and laminopathies

(2011) Howard J. Worman   JOURNAL OF PATHOLOGY

Localization of Pom121 to the inner nuclear membrane is required for an early step of interphase nuclear pore complex assembly

(2011) Tomoko Funakoshi et al.   MOLECULAR BIOLOGY OF THE CELL

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

FTD and ALS: Genetic Ties that Bind

(2011) Harry T. Orr   NEURON

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Molecular basis for specificity of nuclear import and prediction of nuclear localization

(2010) Mary Marfori et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

(2010) Agnes L. Nishimura et al.   BRAIN

NLS-mediated NPC functions of the nucleoporin Pom121

(2010) Sevil Yavuz et al.   FEBS LETTERS

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane

(2010) Jana M. Mitchell et al.   JOURNAL OF CELL BIOLOGY

Live imaging of single nuclear pores reveals unique assembly kinetics and mechanism in interphase

(2010) Elisa Dultz et al.   JOURNAL OF CELL BIOLOGY

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Huntington's disease: from molecular pathogenesis to clinical treatment

(2010) Christopher A Ross et al.   LANCET NEUROLOGY

TAR DNA-binding protein 43 in neurodegenerative disease

(2010) Alice S. Chen-Plotkin et al.   Nature Reviews Neurology

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

Age-Dependent Deterioration of Nuclear Pore Complexes Causes a Loss of Nuclear Integrity in Postmitotic Cells

(2009) Maximiliano A. D'Angelo et al.   CELL

Characterisation of the passive permeability barrier of nuclear pore complexes

(2009) Dagmar Mohr et al.   EMBO JOURNAL

Nuclear Contour Irregularity and Abnormal Transporter Protein Distribution in Anterior Horn Cells in Amyotrophic Lateral Sclerosis

(2009) Yoshimi Kinoshita et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Nuclear pore complex assembly through the cell cycle: Regulation and membrane organization

(2008) Wolfram Antonin et al.   FEBS LETTERS

Systematic kinetic analysis of mitotic dis- and reassembly of the nuclear pore in living cells

(2008) Elisa Dultz et al.   JOURNAL OF CELL BIOLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE