Familial Dysautonomia: Mechanisms and Models

Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation

(2016) Maria J. Téllez   CLINICAL NEUROPHYSIOLOGY

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

(2016) Elisabetta Morini et al.   HUMAN MOLECULAR GENETICS

Brainstem reflexes in patients with familial dysautonomia

(2015) Joel V. Gutiérrez et al.   CLINICAL NEUROPHYSIOLOGY

A Dynamic Unfolded Protein Response Contributes to the Control of Cortical Neurogenesis

(2015) Sophie Laguesse et al.   DEVELOPMENTAL CELL

Building the Neuronal Microtubule Cytoskeleton

(2015) Lukas C. Kapitein et al.   NEURON

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

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

(2015) Sharon Lefler et al.   PLoS One

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

(2015) Tony Karlsborn et al.   RNA Biology

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

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

Neural crest and placode interaction during the development of the cranial sensory system

(2014) Ben Steventon et al.   DEVELOPMENTAL BIOLOGY

From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V

(2014) Simona Capsoni   EUROPEAN JOURNAL OF NEUROSCIENCE

Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor-dependent neurons

(2014) Yasuhiro Indo   EUROPEAN JOURNAL OF NEUROSCIENCE

Selective retinal ganglion cell loss in familial dysautonomia

(2014) Carlos E. Mendoza-Santiesteban et al.   JOURNAL OF NEUROLOGY

IKAP Deficiency in an FD Mouse Model and in Oligodendrocyte Precursor Cells Results in Downregulation of Genes Involved in Oligodendrocyte Differentiation and Myelin Formation

(2014) David Cheishvili et al.   PLoS One

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

Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients

(2013) David Cheishvili et al.   AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL

Structural insights into Elongator function

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

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

(2013) Ron Bochner et al.   HUMAN MOLECULAR GENETICS

Relationship between proprioception at the knee joint and gait ataxia in HSAN III

(2013) Vaughan G. Macefield et al.   MOVEMENT DISORDERS

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

Hereditary sensory and autonomic neuropathy type 3 in non-Jewish child

(2012) Ana Lígia da Silva Silveira et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

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

(2012) Paula Dietrich et al.   HUMAN MOLECULAR GENETICS

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier 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

Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?

(2011) V. G. Macefield et al.   BRAIN

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

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

(2011) L Norcliffe-Kaufmann et al.   JOURNAL OF HUMAN HYPERTENSION

Clinical Neuro-ophthalmic Findings in Familial Dysautonomia

(2011) Carlos E. Mendoza-Santiesteban et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia

(2011) Michael S. Carroll et al.   PEDIATRIC PULMONOLOGY

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

(2011) Rachel Cohen-Kupiec 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

BRAINSTEM AUDITORY EVOKED POTENTIALS IN FAMILIAL DYSAUTONOMIA

(2010) E. Lahat et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Familial Dysautonomia in a Non-Jewish Girl, with Histological Evidence ot Progression in the Sura l Nerve

(2010) F. Guzzetta et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A role for the elongator complex in zygotic paternal genome demethylation

(2010) Yuki Okada et al.   NATURE

Afferent baroreflex failure in familial dysautonomia

(2010) L. Norcliffe-Kaufmann et al.   NEUROLOGY

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

(2010) Nathalie Boone et al.   PLoS One

Chasing a Disease to the Vanishing Point

(2010) J. Couzin-Frankel   SCIENCE

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

(2009) Catherine Creppe et al.   CELL

Neuroimaging supports central pathology in familial dysautonomia

(2009) Felicia B. Axelrod et al.   JOURNAL OF NEUROLOGY

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

(2009) Gabsang Lee et al.   NATURE

Elongator – an emerging role in neurological disorders

(2009) Laurent Nguyen et al.   TRENDS IN MOLECULAR MEDICINE

Cardiac sympathetic hypo-innervation in familial dysautonomia

(2008) David S. Goldstein et al.   CLINICAL AUTONOMIC RESEARCH

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