Literature DB >> 26517286

Early rescue of interneuron disease trajectory in developmental epilepsies.

Meagan S Siehr1, Jeffrey L Noebels2.   

Abstract

The discovery of over 150 monogenic epilepsies and advances in early genetic diagnoses have launched a search for molecular strategies and developmental timetables to reverse or even prevent the course of these debilitating brain disorders. Orthologous rodent models of key disease genes are providing important examples of the range of targets, and serve as valuable test systems for perinatal therapeutic approaches. While gene-specific analyses of single rare 'orphan' diseases are each narrow in scope, they illuminate downstream pathways converging onto interneurons, and treatments that strengthen inhibition during cortical maturation may provide broad protection against these seemingly disparate gene errors. Several genes, even those linked to malformations, show promise for postnatal correction before the onset of their clinical phenotype.
Copyright © 2015 Elsevier Ltd. All rights reserved.

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Year:  2015        PMID: 26517286      PMCID: PMC4738159          DOI: 10.1016/j.conb.2015.10.007

Source DB:  PubMed          Journal:  Curr Opin Neurobiol        ISSN: 0959-4388            Impact factor:   6.627


  56 in total

1.  Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Authors:  Petter Strømme; Marie E Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Journal:  Nat Genet       Date:  2002-03-11       Impact factor: 38.330

2.  Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.

Authors:  MacLean Pancoast Nasrallah; Ginam Cho; Jacqueline C Simonet; Mary E Putt; Kunio Kitamura; Jeffrey A Golden
Journal:  Hum Mol Genet       Date:  2011-11-22       Impact factor: 6.150

Review 3.  The neurology of mTOR.

Authors:  Jonathan O Lipton; Mustafa Sahin
Journal:  Neuron       Date:  2014-10-22       Impact factor: 17.173

4.  Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

Authors:  Pascale Marcorelles; Annie Laquerrière; Christine Adde-Michel; Stéphane Marret; Pascale Saugier-Veber; Chérif Beldjord; Gaëlle Friocourt
Journal:  Acta Neuropathol       Date:  2010-05-12       Impact factor: 17.088

Review 5.  Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy.

Authors:  Paolo Curatolo
Journal:  Pediatr Neurol       Date:  2014-11-20       Impact factor: 3.372

Review 6.  Genetic animal models of malformations of cortical development and epilepsy.

Authors:  Michael Wong; Steven N Roper
Journal:  J Neurosci Methods       Date:  2015-04-21       Impact factor: 2.390

7.  Masking epilepsy by combining two epilepsy genes.

Authors:  Edward Glasscock; Jing Qian; Jong W Yoo; Jeffrey L Noebels
Journal:  Nat Neurosci       Date:  2007-11-04       Impact factor: 24.884

8.  Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function.

Authors:  Lynsey Meikle; Kristen Pollizzi; Anna Egnor; Ioannis Kramvis; Heidi Lane; Mustafa Sahin; David J Kwiatkowski
Journal:  J Neurosci       Date:  2008-05-21       Impact factor: 6.167

Review 9.  Interneurons from embryonic development to cell-based therapy.

Authors:  Derek G Southwell; Cory R Nicholas; Allan I Basbaum; Michael P Stryker; Arnold R Kriegstein; John L Rubenstein; Arturo Alvarez-Buylla
Journal:  Science       Date:  2014-04-11       Impact factor: 47.728

10.  Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly.

Authors:  Masami Yamada; Yuko Yoshida; Daisuke Mori; Takako Takitoh; Mineko Kengaku; Hiroki Umeshima; Keizo Takao; Tsuyoshi Miyakawa; Makoto Sato; Hiroyuki Sorimachi; Anthony Wynshaw-Boris; Shinji Hirotsune
Journal:  Nat Med       Date:  2009-09-06       Impact factor: 53.440

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