MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia

Axon Transport and Neuropathy

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A long non-coding RNA, BC048612 and a microRNA, miR-203 coordinate the gene expression of neuronal growth regulator 1 (NEGR1) adhesion protein

(2016) Prameet Kaur et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

(2016) Elisabetta Morini et al.   HUMAN MOLECULAR GENETICS

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

(2016) Lam Son Nguyen et al.   Molecular Autism

TRPV1 function is modulated by Cdk5-mediated phosphorylation: insights into the molecular mechanism of nociception

(2016) Thomas Jendryke et al.   Scientific Reports

Targeting MicroRNAs in Prevention and Treatment of Neurodegenerative Disorders

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A large-scale functional screen identifies Nova1 and Ncoa3 as regulators of neuronal miRNA function

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The Neuregulin1/ErbB system is selectively regulated during peripheral nerve degeneration and regeneration

(2015) Giulia Ronchi et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders

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DIANA-miRPath v3.0: deciphering microRNA function with experimental support

(2015) Ioannis S. Vlachos et al.   NUCLEIC ACIDS RESEARCH

Dimerization of elongator protein 1 is essential for Elongator complex assembly

(2015) Huisha Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

TrkB/BDNF signalling patterns the sympathetic nervous system

(2015) Jennifer C. Kasemeier-Kulesa et al.   Nature Communications

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation

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Elongator, a conserved complex required for wobble uridine modifications in Eukaryotes

(2015) Tony Karlsborn et al.   RNA Biology

Familial dysautonomia (FD) patients have reduced levels of the modified wobble nucleoside mcm5s2U in tRNA

(2014) Tony Karlsborn et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Pro-apoptotic BIM is an essential initiator of physiological endothelial cell death independent of regulation by FOXO3

(2014) M N Koenig et al.   CELL DEATH AND DIFFERENTIATION

MicroRNAs and their roles in developmental canalization

(2014) Diana M Posadas et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

(2014) M. Z. Jackson et al.   DEVELOPMENT

Foxp2 regulates neuronal differentiation and neuronal subtype specification

(2014) Yi-Chi Chiu et al.   Developmental Neurobiology

DIANA-TarBase v7.0: indexing more than half a million experimentally supported miRNA:mRNA interactions

(2014) Ioannis S. Vlachos et al.   NUCLEIC ACIDS RESEARCH

Involvement of IKAP in Peripheral Target Innervation and in Specific JNK and NGF Signaling in Developing PNS Neurons

(2014) Anastasia Abashidze et al.   PLoS One

Rewiring of an Epithelial Differentiation Factor, miR-203, to Inhibit Human Squamous Cell Carcinoma Metastasis

(2014) Nathan Benaich et al.   Cell Reports

Focal Adhesion Dynamics Are Altered in Schizophrenia

(2013) Yongjun Fan et al.   BIOLOGICAL PSYCHIATRY

Therapeutic Translation of iPSCs for Treating Neurological Disease

(2013) Diana X. Yu et al.   Cell Stem Cell

Structural insights into Elongator function

(2013) Sebastian Glatt et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Alteration of the microRNA network during the progression of Alzheimer's disease

(2013) Pierre Lau et al.   EMBO Molecular Medicine

Widespread microRNA dysregulation in multiple system atrophy - disease-related alteration in miR-96

(2013) Kiren Ubhi et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk

(2013) Ye Cheng et al.   HUMAN MOLECULAR GENETICS

A patient-derived olfactory stem cell disease model for ataxia-telangiectasia

(2013) Romal Stewart et al.   HUMAN MOLECULAR GENETICS

FoxP2 Regulates Neurogenesis during Embryonic Cortical Development

(2013) D. Tsui et al.   JOURNAL OF NEUROSCIENCE

MicroRNA-382 expression is elevated in the olfactory neuroepithelium of schizophrenia patients

(2013) Eyal Mor et al.   NEUROBIOLOGY OF DISEASE

ComiR: combinatorial microRNA target prediction tool

(2013) Claudia Coronnello et al.   NUCLEIC ACIDS RESEARCH

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

(2013) L. George et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The involvement of microRNAs in neurodegenerative diseases

(2013) Simona Maciotta et al.   Frontiers in Cellular Neuroscience

Epigenetic silencing of microRNA-203 is required for EMT and cancer stem cell properties

(2013) Joseph H. Taube et al.   Scientific Reports

Ikbkap/Elp1 Deficiency Causes Male Infertility by Disrupting Meiotic Progression

(2013) Fu-Jung Lin et al.   PLoS Genetics

Roles for MicroRNAs in Conferring Robustness to Biological Processes

(2012) Margaret S. Ebert et al.   CELL

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

(2012) Paula Dietrich et al.   HUMAN MOLECULAR GENETICS

Genome-wide profiling of multiple histone methylations in olfactory cells: further implications for cellular susceptibility to oxidative stress in schizophrenia

(2012) S Kano et al.   MOLECULAR PSYCHIATRY

Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression

(2012) Gabsang Lee et al.   NATURE BIOTECHNOLOGY

MicroRNAs and their targets: recognition, regulation and an emerging reciprocal relationship

(2012) Amy E. Pasquinelli   NATURE REVIEWS GENETICS

Gene expression profiling in human neurodegenerative disease

(2012) Johnathan Cooper-Knock et al.   Nature Reviews Neurology

IKAP/Elp1 Is Required In Vivo for Neurogenesis and Neuronal Survival, but Not for Neural Crest Migration

(2012) Barbara J. Hunnicutt et al.   PLoS One

Concise Review: Patient-Derived Olfactory Stem Cells: New Models for Brain Diseases

(2012) Alan Mackay-Sim   STEM CELLS

MicroRNAs in neuronal function and dysfunction

(2012) Heh-In Im et al.   TRENDS IN NEUROSCIENCES

Novel Modeling of Combinatorial miRNA Targeting Identifies SNP with Potential Role in Bone Density

(2012) Claudia Coronnello et al.   PLoS Computational Biology

Responder and nonresponder patients exhibit different peripheral transcriptional signatures during major depressive episode

(2012) R Belzeaux et al.   Translational Psychiatry

Altered Cell Cycle Dynamics in Schizophrenia

(2011) Yongjun Fan et al.   BIOLOGICAL PSYCHIATRY

Specific correction of a splice defect in brain by nutritional supplementation

(2011) R. S. Shetty et al.   HUMAN MOLECULAR GENETICS

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

(2011) D. Cheishvili et al.   HUMAN MOLECULAR GENETICS

MicroRNA-132 loss is associated with tau exon 10 inclusion in progressive supranuclear palsy

(2011) Pascal Y. Smith et al.   HUMAN MOLECULAR GENETICS

Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells

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Effects of IKAP/hELP1 Deficiency on Gene Expression in Differentiating Neuroblastoma Cells: Implications for Familial Dysautonomia

(2011) Rachel Cohen-Kupiec et al.   PLoS One

NRF2 Activation Restores Disease Related Metabolic Deficiencies in Olfactory Neurosphere-Derived Cells from Patients with Sporadic Parkinson's Disease

(2011) Anthony L. Cook et al.   PLoS One

Deletion of Exon 20 of the Familial Dysautonomia Gene Ikbkap in Mice Causes Developmental Delay, Cardiovascular Defects, and Early Embryonic Lethality

(2011) Paula Dietrich et al.   PLoS One

MicroRNA pharmacogenomics: Post-transcriptional regulation of drug response

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Disease-specific, neurosphere-derived cells as models for brain disorders

(2010) N. Matigian et al.   Disease Models & Mechanisms

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

(2010) Patrice Roll et al.   HUMAN MOLECULAR GENETICS

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

(2010) Stuart A. Scott et al.   HUMAN MUTATION

A role for the elongator complex in zygotic paternal genome demethylation

(2010) Yuki Okada et al.   NATURE

MicroRNA control of signal transduction

(2010) Masafumi Inui et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Olfactory Stem Cells, a New Cellular Model for Studying Molecular Mechanisms Underlying Familial Dysautonomia

(2010) Nathalie Boone et al.   PLoS One

The neuronal splicing factor Nova co-localizes with target RNAs in the dendrite

(2010) Racca   Frontiers in Neural Circuits

Elongator Controls the Migration and Differentiation of Cortical Neurons through Acetylation of α-Tubulin

(2009) Catherine Creppe et al.   CELL

Short non-coding RNA biology and neurodegenerative disorders: novel disease targets and therapeutics

(2009) M. S. Weinberg et al.   HUMAN MOLECULAR GENETICS

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs

(2009) Gabsang Lee et al.   NATURE

Rescuing Z+ agrin splicing in Nova null mice restores synapse formation and unmasks a physiologic defect in motor neuron firing

(2009) M. Ruggiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alterations of the microRNA network cause neurodegenerative disease

(2009) Sébastien S. Hébert et al.   TRENDS IN NEUROSCIENCES

Dynamic regulation of the expression of neurotrophin receptors by Runx3

(2008) S. Nakamura et al.   DEVELOPMENT

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration

(2008) L. D. Johansen et al.   JOURNAL OF CELL SCIENCE

Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP

(2008) Y.-T. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

A skin microRNA promotes differentiation by repressing ‘stemness’

(2008) Rui Yi et al.   NATURE

MicroRNA regulation of Alzheimer's Amyloid precursor protein expression

(2008) Sébastien S. Hébert et al.   NEUROBIOLOGY OF DISEASE

Normalization of microRNA expression levels in quantitative RT-PCR assays: Identification of suitable reference RNA targets in normal and cancerous human solid tissues

(2008) H. J. Peltier et al.   RNA