Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

Lambert van den Heuvel, W. Ruitenbeek, Roel Smeets, +6

The American Journal of Human Genetics

Human ComplexGenetic DisorderGeneticsPathogenesisNuclear Gene +7

Respiratory chain complex I deficiency

Denise M. Kirby, Megan Crawford, Maureen Cleary, +3

Neurology

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

Ralf Triepels, Lambertus P. van den Heuvel, Jan Loeffen, +8

Annals of Neurology

Membrane-bound ribosomes in HeLa cells

Barbara Attardi, Barbara Cravioto, Giuseppe Attardi

Journal of Molecular Biology

Membrane-bound RibosomesNatural SciencesMolecular BiologyMembrane BiologyCellular Biochemistry +3

The nuclear‐encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP‐dependent protein kinase

Sergio Papa, Anna Maria Sardanelli, Tiziana Cocco, +3

FEBS Letters

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

J A Morgan-Hughes, Paul Darveniza, D. N. Landon, +2

Journal of the Neurological Sciences

Mitochondrial MyopathyMitochondrial BiogenesisBiochemistryMitochondrial FunctionNatural Sciences +6

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

Denise M. Kirby, Stephen G. Kahler, Mary‐Louise Freckmann, +2

Annals of Neurology

GeneticsPathologyMolecular BiologyFamily HistoryMolecular Genetics +16

Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome

Sergio Papa, Salvatore Scacco, Anna Maria Sardanelli, +4

FEBS Letters

cDNA of Eight Nuclear Encoded Subunits of NADH:Ubiquinone Oxidoreductase: Human Complex I cDNA Characterization Completed

Jan Loeffen, Ralf Triepels, Lambertus P. van den Heuvel, +4

Biochemical and Biophysical Research Communications

Human ComplexAldo-keto ReductaseAldehyde DehydrogenaseBiochemistryNatural Sciences +4

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure

Johan Fischer, W. Ruitenbeek, Ad M. Stadhouders, +4

Clinica Chimica Acta

Mitochondrial MyopathyMuscle FunctionMitochondrial FunctionBiochemistryMedicine +8