Literature DB >> 10360771

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

R H Triepels1, L P van den Heuvel, J L Loeffen, C A Buskens, R J Smeets, M E Rubio Gozalbo, S M Budde, E C Mariman, F A Wijburg, P G Barth, J M Trijbels, J A Smeitink.   

Abstract

Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.

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Year:  1999        PMID： 10360771     DOI： 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  36 in total

Review 1.  Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.

Authors:  S Di Donato
Journal:  J Inherit Metab Dis       Date:  2000-05       Impact factor: 4.982

2.  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 3.  Mitochondrial complex I: structure, function and pathology.

Authors:  Rolf J R J Janssen; Leo G Nijtmans; Lambert P van den Heuvel; Jan A M Smeitink
Journal:  J Inherit Metab Dis       Date:  2006-07-11       Impact factor: 4.982

4.  NDUFA2 complex I mutation leads to Leigh disease.

Authors:  Saskia J G Hoefs; Cindy E J Dieteren; Felix Distelmaier; Rolf J R J Janssen; Andrea Epplen; Herman G P Swarts; Marleen Forkink; Richard J Rodenburg; Leo G Nijtmans; Peter H Willems; Jan A M Smeitink; Lambert P van den Heuvel
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025

5.  A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

Authors:  Isla Ogilvie; Nancy G Kennaway; Eric A Shoubridge
Journal:  J Clin Invest       Date:  2005-10       Impact factor: 14.808

6.  Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Authors:  Anshika Srivastava; Kinshuk Raj Srivastava; Malavika Hebbar; Chelna Galada; Rajagopal Kadavigrere; Fengyun Su; Xuhong Cao; Arul M Chinnaiyan; Katta M Girisha; Anju Shukla; Stephanie L Bielas
Journal:  Eur J Hum Genet       Date:  2018-07-05       Impact factor: 4.246

Review 7.  Clinical and molecular studies of mitochondrial disease.

Authors:  Y Goto
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

8.  Mitochondrial Respiratory Disorders: A Perspective on their Metabolite Biomarkers and Implications for Clinical Diagnosis and Therapeutic Intervention.

Authors:  Martine Uittenbogaard; Anne Chiaramello
Journal:  Biomark J       Date:  2015-10-12

9.  The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Authors:  Helen A L Tuppen; Vanessa E Hogan; Langping He; Emma L Blakely; Lisa Worgan; Mazhor Al-Dosary; Gabriele Saretzki; Charlotte L Alston; Andrew A Morris; Michael Clarke; Simon Jones; Anita M Devlin; Sahar Mansour; Zofia M A Chrzanowska-Lightowlers; David R Thorburn; Robert McFarland; Robert W Taylor
Journal:  Brain       Date:  2010-09-06       Impact factor: 13.501

10.  The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.

Authors:  Felix Distelmaier; Henk-Jan Visch; Jan A M Smeitink; Ertan Mayatepek; Werner J H Koopman; Peter H G M Willems
Journal:  J Mol Med (Berl)       Date:  2009-03-03       Impact factor: 4.599
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