Published in J Inherit Metab Dis on January 27, 2010
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X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol (2007) 1.53
Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Genes Dev (2007) 1.53
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Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts. Cytometry A (2006) 1.38
Activated leukocyte cell adhesion molecule (ALCAM/CD166/MEMD), a novel actor in invasive growth, controls matrix metalloproteinase activity. Cancer Res (2005) 1.36
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The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Eur J Hum Genet (2006) 1.25
The coxsackievirus 2B protein suppresses apoptotic host cell responses by manipulating intracellular Ca2+ homeostasis. J Biol Chem (2004) 1.23
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Determinants for membrane association and permeabilization of the coxsackievirus 2B protein and the identification of the Golgi complex as the target organelle. J Biol Chem (2002) 1.22
Reconstruction of the complete ouabain-binding pocket of Na,K-ATPase in gastric H,K-ATPase by substitution of only seven amino acids. J Biol Chem (2005) 1.20
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation. J Inherit Metab Dis (2012) 1.20
The structural unit of the thiazide-sensitive NaCl cotransporter is a homodimer. J Biol Chem (2003) 1.19
CTGF inhibits BMP-7 signaling in diabetic nephropathy. J Am Soc Nephrol (2008) 1.19
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Superoxide production is inversely related to complex I activity in inherited complex I deficiency. Biochim Biophys Acta (2007) 1.18
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Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling. Methods (2008) 1.11
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