Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease

A Review of Podocyte Biology

(2018) Puneet Garg   AMERICAN JOURNAL OF NEPHROLOGY

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

NUP98 Sets the Size-Exclusion Diffusion Limit through the Ciliary Base

(2018) S. Joseph Endicott et al.   CURRENT BIOLOGY

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

(2018) Matthieu Egloff et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetics of neuromuscular fetal akinesia in the genomics era

(2018) Sarah Jane Beecroft et al.   JOURNAL OF MEDICAL GENETICS

Compensation for chronic oxidative stress in ALADIN null mice

(2018) Ramona Jühlen et al.   Biology Open

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency

(2018) Yu Ren et al.   Molecular Genetics & Genomic Medicine

Influenza-Associated Acute Necrotizing Encephalopathy in Siblings

(2018) Ashley Howard et al.   Journal of the Pediatric Infectious Diseases Society

Nuclear pore heterogeneity influences HIV-1 infection and the antiviral activity of MX2

(2018) Melissa Kane et al.   eLife

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

(2017) Rasim Ozgur Rosti et al.   JOURNAL OF MEDICAL GENETICS

A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies

(2017) Li-En Jao et al.   MOLECULAR BIOLOGY OF THE CELL

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL 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

Single nucleotide variant in Nucleoporin 107 may be predictive of sensitivity to chemotherapy in patients with ovarian cancer

(2017) Shaheen Alanee et al.   Pharmacogenetics and Genomics

A human microglia-like cellular model for assessing the effects of neurodegenerative disease gene variants

(2017) Katie J. Ryan et al.   Science Translational Medicine

The functional versatility of the nuclear pore complex proteins

(2017) Mohammed Hezwani et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular DiseaseCLINICAL PERSPECTIVE

(2017) Gloria T. Haskell et al.   Circulation-Cardiovascular Genetics

A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy

(2016) Ian A. Parish et al.   AMERICAN JOURNAL OF PATHOLOGY

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy

(2016) Vishal Sondhi et al.   BRAIN & DEVELOPMENT

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation

(2016) Katharina Sell et al.   BRAIN & DEVELOPMENT

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia

(2016) Florencia del Viso et al.   DEVELOPMENTAL CELL

Nuclear pore protein NUP88 activates anaphase-promoting complex to promote aneuploidy

(2016) Ryan M. Naylor et al.   JOURNAL OF CLINICAL INVESTIGATION

The Structure Inventory of the Nuclear Pore Complex

(2016) Thomas U. Schwartz   JOURNAL OF MOLECULAR BIOLOGY

The Multiple Faces of Disordered Nucleoporins

(2016) Edward A. Lemke   JOURNAL OF MOLECULAR BIOLOGY

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

(2016) Daniela A Braun et al.   NATURE GENETICS

NUP107mutations in children with steroid-resistant nephrotic syndrome

(2016) Eujin Park et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo

(2016) A. Seytanoglu et al.   NEUROSCIENCE

Familial acute necrotizing encephalopathy withoutRANBP2mutation: Poor outcome

(2016) Naoko Nishimura et al.   PEDIATRICS INTERNATIONAL

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype

(2015) Rahul R. Singh et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

(2015) Ariella Weinberg-Shukron et al.   JOURNAL OF CLINICAL INVESTIGATION

Acute Necrotizing Encephalopathy: An Underrecognized Clinicoradiologic Disorder

(2015) Xiujuan Wu et al.   MEDIATORS OF INFLAMMATION

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Only a Touch of the Flu? The Simultaneous Manifestation of Acute Necrotizing Encephalopathy in Two Consanguineous Patients

(2015) C. Bloch et al.   Open Forum Infectious Diseases

Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis

(2015) Ramona Jühlen et al.   PLoS One

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

(2014) Hannah M. Kaneb et al.   HUMAN MOLECULAR GENETICS

Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene

(2014) Christian Denier et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Role for NUP62 depletion and PYK2 redistribution in dendritic retraction resulting from chronic stress

(2014) Yayoi Kinoshita et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional Genomics Evidence Unearths New Moonlighting Roles of Outer Ring Coat Nucleoporins

(2014) Katerina R. Katsani et al.   Scientific Reports

Nucleoporin Nup188 is required for chromosome alignment in mitosis

(2013) Go Itoh et al.   CANCER SCIENCE

Integrated Structural Analysis of the Human Nuclear Pore Complex Scaffold

(2013) Khanh Huy Bui et al.   CELL

Deficiency of ALADIN Impairs Redox Homeostasis in Human Adrenal Cells and Inhibits Steroidogenesis

(2013) R. Prasad et al.   ENDOCRINOLOGY

Changes in Differential Gene Expression in Fibroblast Cells from Patients with Triple A Syndrome under Oxidative Stress

(2013) K. Koehler et al.   HORMONE AND METABOLIC RESEARCH

An in vitro assay for entry into cilia reveals unique properties of the soluble diffusion barrier

(2013) David K. Breslow et al.   JOURNAL OF CELL BIOLOGY

Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis

(2013) Katharina Wolf et al.   JOURNAL OF NEUROLOGY

Cell type-specific nuclear pores: a case in point for context-dependent stoichiometry of molecular machines

(2013) A. Ori et al.   Molecular Systems Biology

Identification of Novel Stress Granule Components That Are Involved in Nuclear Transport

(2013) Hicham Mahboubi et al.   PLoS One

A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization

(2012) L.-E. Jao et al.   DEVELOPMENT

The RanBP2/RanGAP1∗SUMO1/Ubc9 Complex Is a Multisubunit SUMO E3 Ligase

(2012) Andreas Werner et al.   MOLECULAR CELL

A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia

(2012) Hooi Lynn Kee et al.   NATURE CELL BIOLOGY

Heart Failure Induces Significant Changes in Nuclear Pore Complex of Human Cardiomyocytes

(2012) Estefanía Tarazón et al.   PLoS One

The Human Nuclear Pore Complex as Revealed by Cryo-Electron Tomography

(2012) Tal Maimon et al.   STRUCTURE

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: Is it useful?

(2011) Laura Bergamino et al.   BRAIN & DEVELOPMENT

Decreased AIRE Expression and Global Thymic Hypofunction in Down Syndrome

(2011) F. A. Lima et al.   JOURNAL OF IMMUNOLOGY

Fetal akinesia: review of the genetics of the neuromuscular causes

(2011) G. Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

Induction of Ran GTP drives ciliogenesis

(2011) Shuling Fan et al.   MOLECULAR BIOLOGY OF THE CELL

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

(2011) Omar M E Albagha et al.   NATURE GENETICS

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

(2011) K. A. Fakhro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Ran importin system in cilia trafficking

(2011) Shuling Fan et al.   Organogenesis

Identification of importin α1 as a novel constituent of RNA stress granules

(2010) Ken Fujimura et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Moonlighting proteins: An intriguing mode of multitasking

(2010) Daphne H.E.W. Huberts et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Aire's Partners in the Molecular Control of Immunological Tolerance

(2010) Jakub Abramson et al.   CELL

Acute encephalopathy and encephalitis caused by influenza virus infection

(2010) Gefei F Wang et al.   CURRENT OPINION IN NEUROLOGY

Untreated recurrent acute necrotising encephalopathy associated with RANBP2 mutation, and normal outcome in a Caucasian boy

(2010) Ne-Ron Loh et al.   EUROPEAN JOURNAL OF PEDIATRICS

The Leukocyte Nuclear Envelope Proteome Varies with Cell Activation and Contains Novel Transmembrane Proteins That Affect Genome Architecture

(2010) Nadia Korfali et al.   MOLECULAR & CELLULAR PROTEOMICS

Several Novel Nuclear Envelope Transmembrane Proteins Identified in Skeletal Muscle Have Cytoskeletal Associations

(2010) Gavin S. Wilkie et al.   MOLECULAR & CELLULAR PROTEOMICS

Dominant encephalopathy mimicking mitochondrial disease

(2010) T. Lonnqvist et al.   NEUROLOGY

Acute Necrotizing Encephalopathy in 3 Brothers

(2010) E. J. Marco et al.   PEDIATRICS

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

(2009) Derek E. Neilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope

(2009) Barbara Kind et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Influence of heart failure on nucleocytoplasmic transport in human cardiomyocytes

(2009) R. Cortes et al.   CARDIOVASCULAR RESEARCH

Genetic basis for acute necrotizing encephalopathy of childhood

(2009) MOHNISH SURI   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family

(2009) ARTEMIS D GIKA et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Structural Analysis of a Metazoan Nuclear Pore Complex Reveals a Fused Concentric Ring Architecture

(2009) Daphna Frenkiel-Krispin et al.   JOURNAL OF MOLECULAR BIOLOGY

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

A role for transportin in deposition of TTP to cytoplasmic RNA granules and mRNA decay

(2009) Wei-Lun Chang et al.   NUCLEIC ACIDS RESEARCH

Nuclear envelope and nuclear pore complex structure and organization in tobacco BY-2 cells

(2009) Jindriska Fiserova et al.   PLANT JOURNAL

Mutation in Nuclear Pore Component NUP155 Leads to Atrial Fibrillation and Early Sudden Cardiac Death

(2008) Xianqin Zhang et al.   CELL

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

(2008) Heidi O Nousiainen et al.   NATURE GENETICS

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY