Literature DB >> 1646255

Rett syndrome and mitochondrial enzyme deficiencies.

S B Coker1, A R Melnyk.   

Abstract

The etiology of Rett syndrome is unknown. Structural mitochondrial abnormalities have been described in muscle in patients with Rett syndrome. We report three children with Rett syndrome and normal muscle mitochondrial structure on light and electron microscopy. However, all had abnormalities in mitochondrial respiratory chain enzymes.

Entities:  

Mesh:

Substances:

Year:  1991        PMID: 1646255     DOI: 10.1177/088307389100600216

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  20 in total

1.  Oxidative stress in Rett syndrome: natural history, genotype, and variants.

Authors:  Silvia Leoncini; Claudio De Felice; Cinzia Signorini; Alessandra Pecorelli; Thierry Durand; Giuseppe Valacchi; Lucia Ciccoli; Joussef Hayek
Journal:  Redox Rep       Date:  2011       Impact factor: 4.412

Review 2.  Rett syndrome.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

Review 3.  Rett syndrome.

Authors:  S B Naidu
Journal:  Indian J Pediatr       Date:  1997 Sep-Oct       Impact factor: 1.967

4.  CREB Signaling Is Involved in Rett Syndrome Pathogenesis.

Authors:  Qian Bu; Anxin Wang; Hamdi Hamzah; Alex Waldman; Keer Jiang; Qiping Dong; Ronghui Li; Jason Kim; Daniel Turner; Qiang Chang
Journal:  J Neurosci       Date:  2017-03-07       Impact factor: 6.167

5.  Longitudinal course of epilepsy in Rett syndrome and related disorders.

Authors:  Daniel C Tarquinio; Wei Hou; Anne Berg; Walter E Kaufmann; Jane B Lane; Steven A Skinner; Kathleen J Motil; Jeffrey L Neul; Alan K Percy; Daniel G Glaze
Journal:  Brain       Date:  2016-12-21       Impact factor: 13.501

6.  Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.

Authors:  R P Beekman; N Hofstee; J A Smeitink; B T Poll-The; M Duran
Journal:  Eur J Pediatr       Date:  1994-04       Impact factor: 3.183

7.  Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome.

Authors:  Skirmantas Kriaucionis; Andrew Paterson; John Curtis; Jacky Guy; Nikki Macleod; Adrian Bird
Journal:  Mol Cell Biol       Date:  2006-07       Impact factor: 4.272

8.  Rett syndrome.

Authors:  M Ghofrani; T Mahmoodian
Journal:  Indian J Pediatr       Date:  2000-07       Impact factor: 1.967

Review 9.  Does microglial dysfunction play a role in autism and Rett syndrome?

Authors:  Izumi Maezawa; Marco Calafiore; Heike Wulff; Lee-Way Jin
Journal:  Neuron Glia Biol       Date:  2012-04-30

10.  Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.

Authors:  Joanne H Gibson; Barry Slobedman; Harikrishnan K N; Sarah L Williamson; Dimitri Minchenko; Assam El-Osta; Joshua L Stern; John Christodoulou
Journal:  BMC Neurosci       Date:  2010-04-26       Impact factor: 3.288

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.