Literature DB >> 10899453

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.

L Santoro1, R Carrozzo, A Malandrini, F Piemonte, C Patrono, M Villanova, A Tessa, S Palmeri, E Bertini, F M Santorelli.   

Abstract

We report on a 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy showed a defect of myelination. Biochemical analyses of muscle homogenate showed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene analysis identified a novel homozygous nonsense mutation which predicts a truncated surf1 protein.

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10899453     DOI： 10.1016/s0960-8966(99)00122-4

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  8 in total

1.  SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Authors:  Andoni Echaniz-Laguna; Daniele Ghezzi; Maïté Chassagne; Martine Mayençon; Sylvie Padet; Laura Melchionda; Isabelle Rouvet; Béatrice Lannes; Dominique Bozon; Philippe Latour; Massimo Zeviani; Bénédicte Mousson de Camaret
Journal:  Neurology       Date:  2013-09-11       Impact factor: 9.910

Review 2.  Schwann cell mitochondria as key regulators in the development and maintenance of peripheral nerve axons.

Authors:  Daisuke Ino; Masamitsu Iino
Journal:  Cell Mol Life Sci       Date:  2016-09-16       Impact factor: 9.261

3.  Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.

Authors:  Catharina Casper; Eirini Kalliolia; Thomas T Warner
Journal:  Curr Neuropharmacol       Date:  2013-01       Impact factor: 7.363

4.  SURF1 deficiency: a multi-centre natural history study.

Authors:  Yehani Wedatilake; Ruth M Brown; Robert McFarland; Joy Yaplito-Lee; Andrew A M Morris; Mike Champion; Phillip E Jardine; Antonia Clarke; David R Thorburn; Robert W Taylor; John M Land; Katharine Forrest; Angus Dobbie; Louise Simmons; Erlend T Aasheim; David Ketteridge; Donncha Hanrahan; Anupam Chakrapani; Garry K Brown; Shamima Rahman
Journal:  Orphanet J Rare Dis       Date:  2013-07-05       Impact factor: 4.123

5.  SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

Authors:  C Quadalti; D Brunetti; I Lagutina; R Duchi; A Perota; G Lazzari; R Cerutti; I Di Meo; M Johnson; E Bottani; P Crociara; C Corona; S Grifoni; V Tiranti; E Fernandez-Vizarra; A J Robinson; C Viscomi; C Casalone; M Zeviani; C Galli
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2018-03-28       Impact factor: 5.187

6.  Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53.

Authors:  Eleonora Napoli; Catherine Ross-Inta; Sarah Wong; Connie Hung; Yasuko Fujisawa; Danielle Sakaguchi; James Angelastro; Alicja Omanska-Klusek; Robert Schoenfeld; Cecilia Giulivi
Journal:  PLoS One       Date:  2012-08-10       Impact factor: 3.240

7.  Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.

Authors:  M Pronicki; E Matyja; D Piekutowska-Abramczuk; T Szymanska-Debinska; A Karkucinska-Wieckowska; E Karczmarewicz; W Grajkowska; T Kmiec; E Popowska; J Sykut-Cegielska
Journal:  J Clin Pathol       Date:  2007-10-01       Impact factor: 3.411

Review 8.  Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.

Authors:  Inn-Chi Lee; Kuo-Liang Chiang
Journal:  Antioxidants (Basel)       Date:  2021-12-05
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.