Literature DB >> 10080174

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

M Schuelke, J Smeitink, E Mariman, J Loeffen, B Plecko, F Trijbels, S Stöckler-Ipsiroglu, L van den Heuvel.   

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Year:  1999        PMID： 10080174     DOI： 10.1038/6772

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  57 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.  Sequence analysis of two nuclear encoded subunits (10 and 51 kDa) of mitochondrial complex I in Parkinson disease.

Authors:  Eva M Grasbon-Frodl; P Mehraein
Journal:  Neurogenetics       Date:  2002-03       Impact factor: 2.660

Review 3.  Human mitochondrial complex I in health and disease.

Authors:  J Smeitink; L van den Heuvel
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

4.  Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.

Authors:  Mariana Ferreira; Alessandra Torraco; Teresa Rizza; Fabiana Fattori; Maria Chiara Meschini; Cinzia Castana; Nancy E Go; Frank E Nargang; Margarida Duarte; Fiorella Piemonte; Carlo Dionisi-Vici; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli; Rosalba Carrozzo; Enrico Bertini
Journal:  Neurogenetics       Date:  2011-01-04       Impact factor: 2.660

Review 5.  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

6.  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

Review 7.  Movement disorders in mitochondrial disease.

Authors:  Roula Ghaoui; Carolyn M Sue
Journal:  J Neurol       Date:  2018-01-06       Impact factor: 4.849

8.  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

9.  Introduction of an additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans.

Authors:  Leslie I Grad; Leanne C Sayles; Bernard D Lemire
Journal:  Proc Natl Acad Sci U S A       Date:  2005-12-12       Impact factor: 11.205

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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