Literature DB >> 2803392

Mitochondrial alterations in Rett syndrome.

A Ruch1, T W Kurczynski, M E Velasco.   

Abstract

Findings in the muscle biopsies from 2 patients with Rett syndrome are presented. Routine light microscopy and muscle histochemistry were unremarkable. Electron microscopy revealed mitochondrial alterations, including distention, vacuolation, and membranous changes. The results suggest the possibility of a mitochondrial defect in Rett syndrome.

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Year:  1989        PMID： 2803392     DOI： 10.1016/0887-8994(89)90027-1

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  16 in total

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2.  A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

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

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4.  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
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Review 5.  Does microglial dysfunction play a role in autism and Rett syndrome?

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6.  Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome.

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7.  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
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8.  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

Review 9.  Rett syndrome: think outside the (skull) box.

Authors:  Emilie Borloz; Laurent Villard; Jean-Christophe Roux
Journal:  Fac Rev       Date:  2021-06-29

10.  ALS-associated mutant SOD1G93A causes mitochondrial vacuolation by expansion of the intermembrane space and by involvement of SOD1 aggregation and peroxisomes.

Authors:  Cynthia M J Higgins; Cheolwha Jung; Zuoshang Xu
Journal:  BMC Neurosci       Date:  2003-07-15       Impact factor: 3.288
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