Literature DB >> 8214327

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

M T Dotti1, L Manneschi, A Malandrini, N De Stefano, F Caznerale, A Federico.   

Abstract

We report the ultrastructural and biochemical alterations of muscle mitochondria in two girls with Rett syndrome. Our findings suggest the presence of an energy metabolism impairment the primary or secondary role of which in the pathogenesis of this syndrome cannot be defined at present.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8214327     DOI： 10.1016/0387-7604(93)90045-a

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  19 in total

Review 1.  Rett syndrome.

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

2.  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

3.  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

4.  Modulation of RhoGTPases improves the behavioral phenotype and reverses astrocytic deficits in a mouse model of Rett syndrome.

Authors:  Bianca De Filippis; Alessia Fabbri; Daiana Simone; Rossella Canese; Laura Ricceri; Fiorella Malchiodi-Albedi; Giovanni Laviola; Carla Fiorentini
Journal:  Neuropsychopharmacology       Date:  2011-12-07       Impact factor: 7.853

Review 5.  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

6.  Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity.

Authors:  Lee-Way Jin; Makoto Horiuchi; Heike Wulff; Xiao-Bo Liu; Gino A Cortopassi; Jeffrey D Erickson; Izumi Maezawa
Journal:  J Neurosci       Date:  2015-02-11       Impact factor: 6.167

7.  Enhanced cell death in MeCP2 null cerebellar granule neurons exposed to excitotoxicity and hypoxia.

Authors:  J C Russell; M E Blue; M V Johnston; S Naidu; M A Hossain
Journal:  Neuroscience       Date:  2007-10-11       Impact factor: 3.590

8.  Foxg1 localizes to mitochondria and coordinates cell differentiation and bioenergetics.

Authors:  Laura Pancrazi; Giulietta Di Benedetto; Laura Colombaioni; Grazia Della Sala; Giovanna Testa; Francesco Olimpico; Aurelio Reyes; Massimo Zeviani; Tullio Pozzan; Mario Costa
Journal:  Proc Natl Acad Sci U S A       Date:  2015-10-27       Impact factor: 11.205

9.  Integrated RNA Sequencing Reveals Epigenetic Impacts of Diesel Particulate Matter Exposure in Human Cerebral Organoids.

Authors:  Stephanie M Bilinovich; Katie L Uhl; Kristy Lewis; Xavier Soehnlen; Michael Williams; Daniel Vogt; Jeremy W Prokop; Daniel B Campbell
Journal:  Dev Neurosci       Date:  2021-03-03       Impact factor: 2.984

Review 10.  Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis.

Authors:  D A Rossignol; R E Frye
Journal:  Mol Psychiatry       Date:  2011-01-25       Impact factor: 15.992
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.