Literature DB >> 23435289

Mitochondrial deficiency in Cockayne syndrome.

Morten Scheibye-Knudsen1, Deborah L Croteau, Vilhelm A Bohr.   

Abstract

Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we discuss recent findings of mitochondrial pathology in Cockayne syndrome and suggest possible mechanisms for the mitochondrial dysfunction. Published by Elsevier Ireland Ltd.

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Year:  2013        PMID: 23435289      PMCID: PMC3663877          DOI: 10.1016/j.mad.2013.02.007

Source DB:  PubMed          Journal:  Mech Ageing Dev        ISSN: 0047-6374            Impact factor:   5.432


  107 in total

1.  A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Authors:  I J Holt; A E Harding; R K Petty; J A Morgan-Hughes
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

2.  Dental treatment of a patient with Friedreich's ataxia.

Authors:  J H Camm; J V Carpenter
Journal:  Spec Care Dentist       Date:  1987 May-Jun

Review 3.  Transcription-coupled repair and human disease.

Authors:  P C Hanawalt
Journal:  Science       Date:  1994-12-23       Impact factor: 47.728

4.  Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

Authors:  T Aoyama; M Souri; S Ushikubo; T Kamijo; S Yamaguchi; R I Kelley; W J Rhead; K Uetake; K Tanaka; T Hashimoto
Journal:  J Clin Invest       Date:  1995-06       Impact factor: 14.808

5.  Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

Authors:  A K Iafolla; R J Thompson; C R Roe
Journal:  J Pediatr       Date:  1994-03       Impact factor: 4.406

Review 6.  Cockayne syndrome: review of 140 cases.

Authors:  M A Nance; S A Berry
Journal:  Am J Med Genet       Date:  1992-01-01

7.  The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Authors:  S R Hammans; M G Sweeney; M G Hanna; M Brockington; J A Morgan-Hughes; A E Harding
Journal:  Brain       Date:  1995-06       Impact factor: 13.501

8.  Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Authors:  S Rahman; R B Blok; H H Dahl; D M Danks; D M Kirby; C W Chow; J Christodoulou; D R Thorburn
Journal:  Ann Neurol       Date:  1996-03       Impact factor: 10.422

9.  Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.

Authors:  T Koskinen; P Santavuori; K Sainio; M Lappi; A K Kallio; H Pihko
Journal:  J Neurol Sci       Date:  1994-01       Impact factor: 3.181

10.  Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction.

Authors:  N Zelnik; F B Axelrod; E Leshinsky; M L Griebel; E H Kolodny
Journal:  Pediatr Neurol       Date:  1996-04       Impact factor: 3.372

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  23 in total

1.  Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony.

Authors:  Alexandre T Vessoni; Roberto H Herai; Jerome V Karpiak; Angelica M S Leal; Cleber A Trujillo; Annabel Quinet; Lucymara F Agnez Lima; Carlos F M Menck; Alysson R Muotri
Journal:  Hum Mol Genet       Date:  2016-01-10       Impact factor: 6.150

2.  Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA.

Authors:  Morten Scheibye-Knudsen; Anne Tseng; Martin Borch Jensen; Karsten Scheibye-Alsing; Evandro Fei Fang; Teruaki Iyama; Sanjay Kumar Bharti; Krisztina Marosi; Lynn Froetscher; Henok Kassahun; David Mark Eckley; Robert W Maul; Paul Bastian; Supriyo De; Soumita Ghosh; Hilde Nilsen; Ilya G Goldberg; Mark P Mattson; David M Wilson; Robert M Brosh; Myriam Gorospe; Vilhelm A Bohr
Journal:  Proc Natl Acad Sci U S A       Date:  2016-10-18       Impact factor: 11.205

3.  Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage.

Authors:  James E Cleaver; Angela M Brennan-Minnella; Raymond A Swanson; Ka-wing Fong; Junjie Chen; Kai-ming Chou; Yih-wen Chen; Ingrid Revet; Vladimir Bezrookove
Journal:  Proc Natl Acad Sci U S A       Date:  2014-08-18       Impact factor: 11.205

4.  A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome.

Authors:  Morten Scheibye-Knudsen; Sarah J Mitchell; Evandro F Fang; Teruaki Iyama; Theresa Ward; James Wang; Christopher A Dunn; Nagendra Singh; Sebastian Veith; Md Mahdi Hasan-Olive; Aswin Mangerich; Mark A Wilson; Mark P Mattson; Linda H Bergersen; Victoria C Cogger; Alessandra Warren; David G Le Couteur; Ruin Moaddel; David M Wilson; Deborah L Croteau; Rafael de Cabo; Vilhelm A Bohr
Journal:  Cell Metab       Date:  2014-11-04       Impact factor: 27.287

Review 5.  Mitochondrial DNA damage as driver of cellular outcomes.

Authors:  Cristina A Nadalutti; Sylvette Ayala-Peña; Janine H Santos
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Review 6.  Protecting the mitochondrial powerhouse.

Authors:  Morten Scheibye-Knudsen; Evandro F Fang; Deborah L Croteau; David M Wilson; Vilhelm A Bohr
Journal:  Trends Cell Biol       Date:  2014-12-11       Impact factor: 20.808

7.  Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice.

Authors:  Robert N Rainey; Sum-Yan Ng; Juan Llamas; Gijsbertus T J van der Horst; Neil Segil
Journal:  J Neurosci       Date:  2016-04-27       Impact factor: 6.167

Review 8.  Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction.

Authors:  Mansoor Hussain; Sudarshan Krishnamurthy; Jaimin Patel; Edward Kim; Beverly A Baptiste; Deborah L Croteau; Vilhelm A Bohr
Journal:  J Invest Dermatol       Date:  2021-01-19       Impact factor: 8.551

9.  The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure.

Authors:  Robert J Lake; Erica L Boetefuer; Pei-Fang Tsai; Jieun Jeong; Inchan Choi; Kyoung-Jae Won; Hua-Ying Fan
Journal:  PLoS Genet       Date:  2014-04-17       Impact factor: 5.917

10.  Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation.

Authors:  Yuming Wang; Jace Jones-Tabah; Probir Chakravarty; Aengus Stewart; Alysson Muotri; Rebecca R Laposa; Jesper Q Svejstrup
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