Literature DB >> 12076674

Familial dysautonomia.

Susan A Slaugenhaupt1, James F Gusella.   

Abstract

Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex. The major FD mutation is a splice mutation that results in aberrant tissue-specific mRNA splicing.

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Year:  2002        PMID： 12076674     DOI： 10.1016/s0959-437x(02)00303-9

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  22 in total

1.  The histone acetyltransferase Elp3 plays in active role in the control of synaptic bouton expansion and sleep in Drosophila.

Authors:  Neetu Singh; Meridith T Lorbeck; Ashley Zervos; John Zimmerman; Felice Elefant
Journal:  J Neurochem       Date:  2010-08-24       Impact factor: 5.372

2.  4-Phenylbutyrate stimulates Hsp70 expression through the Elp2 component of elongator and STAT-3 in cystic fibrosis epithelial cells.

Authors:  Laurence Suaud; Katelyn Miller; Ashley E Panichelli; Rachel L Randell; Catherine M Marando; Ronald C Rubenstein
Journal:  J Biol Chem       Date:  2011-11-08       Impact factor: 5.157

3.  Mutations in ABO1/ELO2, a subunit of holo-Elongator, increase abscisic acid sensitivity and drought tolerance in Arabidopsis thaliana.

Authors:  Zhizhong Chen; Hairong Zhang; Daniel Jablonowski; Xiaofeng Zhou; Xiaozhi Ren; Xuhui Hong; Raffael Schaffrath; Jian-Kang Zhu; Zhizhong Gong
Journal:  Mol Cell Biol       Date:  2006-09       Impact factor: 4.272

4.  The elongata mutants identify a functional Elongator complex in plants with a role in cell proliferation during organ growth.

Authors:  Hilde Nelissen; Delphine Fleury; Leonardo Bruno; Pedro Robles; Lieven De Veylder; Jan Traas; José Luis Micol; Marc Van Montagu; Dirk Inzé; Mieke Van Lijsebettens
Journal:  Proc Natl Acad Sci U S A       Date:  2005-05-13       Impact factor: 11.205

5.  Cytological investigations of the Arabidopsis thaliana elo1 mutant give new insights into leaf lateral growth and Elongator function.

Authors:  Andrea Falcone; Hilde Nelissen; Delphine Fleury; Mieke Van Lijsebettens; Maria Beatrice Bitonti
Journal:  Ann Bot       Date:  2007-06-11       Impact factor: 4.357

6.  IKAP/hELP1 down-regulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression.

Authors:  Rachel Cohen-Kupiec; Shiri Weinstein; Gal Kantor; Dan Peer; Miguel Weil
Journal:  Cell Adh Migr       Date:  2010 Oct-Dec       Impact factor: 3.405

7.  Receptors and other signaling proteins required for serotonin control of locomotion in Caenorhabditis elegans.

Authors:  Güliz Gürel; Megan A Gustafson; Judy S Pepper; H Robert Horvitz; Michael R Koelle
Journal:  Genetics       Date:  2012-09-28       Impact factor: 4.562

8.  Fine mapping of the 9q31 Hirschsprung's disease locus.

Authors:  C S Tang; Y Sribudiani; X P Miao; A R de Vries; G Burzynski; M T So; Y Y Leon; B H Yip; J Osinga; K J W S Hui; J B G M Verheij; S S Cherny; P K H Tam; P C Sham; R M W Hofstra; M M Garcia-Barceló
Journal:  Hum Genet       Date:  2010-04-02       Impact factor: 4.132

Review 9.  Human embryonic stem cell differentiation toward regional specific neural precursors.

Authors:  Slaven Erceg; Mohammad Ronaghi; Miodrag Stojković
Journal:  Stem Cells       Date:  2009-01       Impact factor: 6.277

10.  The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.

Authors:  Jachen A Solinger; Roberta Paolinelli; Holger Klöss; Francesco Berlanda Scorza; Stefano Marchesi; Ursula Sauder; Dai Mitsushima; Fabrizio Capuani; Stephen R Stürzenbaum; Giuseppe Cassata
Journal:  PLoS Genet       Date:  2010-01-22       Impact factor: 5.917
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