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

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

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

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

Clinical Neuro-ophthalmic Findings in Familial Dysautonomia

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

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

(2011) Felicia B Axelrod et al.   PEDIATRIC RESEARCH

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

Renal Transplantation in Familial Dysautonomia: Report of Two Cases and Review of the Literature

(2010) Y. Rekhtman et al.   Clinical Journal of the American Society of Nephrology

INCREASED MAJOR SALIVARY GLAND SECRETION IN FAMILIAL DYSAUTONOMIA

(2010) Ellyahu Mass et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells

(2010) Hadas Keren et al.   PLoS One

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

(2010) Nathalie Boone et al.   PLoS One

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

(2009) Catherine Creppe et al.   CELL

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

(2009) Gabsang Lee et al.   NATURE

Deregulated expression of pro-survival and pro-apoptotic p53-dependent genes upon Elongator deficiency in colon cancer cells

(2008) Isabelle Cornez et al.   BIOCHEMICAL PHARMACOLOGY

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

Plasma Catechols in Familial Dysautonomia: A Long-term Follow-up Study

(2008) David S. Goldstein et al.   NEUROCHEMICAL RESEARCH