Literature DB >> 11743516

Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency.

M Bar-Meir1, O N Elpeleg, A Saada.   

Abstract

The effect of agents commonly used in the therapy of mitochondrial complex I deficiency was examined in fibroblasts from a patient. Marked improvement was observed with riboflavin, which nearly normalized the adenosine triphosphate production. The study of adenosine triphosphate production rate in fibroblasts may improve decision-making in treatment design of patients with respiratory chain defects.

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Year:  2001        PMID： 11743516     DOI： 10.1067/mpd.2001.118885

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  9 in total

1.  A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

Authors:  Jessica Nouws; Flemming Wibrand; Mariël van den Brand; Hanka Venselaar; Morten Duno; Allan M Lund; Simon Trautner; Leo Nijtmans; Elsebet Ostergard
Journal:  JIMD Rep       Date:  2013-08-31

Review 2.  Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

Authors:  Adam J Kuszak; Michael Graham Espey; Marni J Falk; Marissa A Holmbeck; Giovanni Manfredi; Gerald S Shadel; Hilary J Vernon; Zarazuela Zolkipli-Cunningham
Journal:  Annu Rev Pathol       Date:  2017-11-03       Impact factor: 23.472

3.  Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases.

Authors:  J Panetta; L J Smith; A Boneh
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 4.  The biochemical and cellular basis for nutraceutical strategies to attenuate neurodegeneration in Parkinson's disease.

Authors:  Elizabeth A Mazzio; Fran Close; Karam F A Soliman
Journal:  Int J Mol Sci       Date:  2011-01-17       Impact factor: 5.923

5.  A rare mitochondrial disorder: Leigh syndrome--a case report.

Authors:  Dhananjay Y Shrikhande; Piyush Kalakoti; M M Aarif Syed; Kunal Ahya; Gurmeet Singh
Journal:  Ital J Pediatr       Date:  2010-09-15       Impact factor: 2.638

6.  Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound.

Authors:  Anna Golubitzky; Phyllis Dan; Sarah Weissman; Gabriela Link; Jakob D Wikstrom; Ann Saada
Journal:  PLoS One       Date:  2011-10-26       Impact factor: 3.240

Review 7.  The genetics of Leigh syndrome and its implications for clinical practice and risk management.

Authors:  Ilene S Ruhoy; Russell P Saneto
Journal:  Appl Clin Genet       Date:  2014-11-13

8.  Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Authors:  Aparna Prasad; Matthew A Sdano; Rena J Vanzo; Patricia A Mowery-Rushton; Moises A Serrano; Charles H Hensel; E Robert Wassman
Journal:  BMC Med Genet       Date:  2018-03-20       Impact factor: 2.023

Review 9.  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
  9 in total

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