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NUBPL gene

Known as: FLJ12660, NUBPL, IND1 
 
National Institutes of Health

Related topics

Related topics

1 relation

Broader (1)

Genes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Human diseases associated with defects in assembly of OXPHOS complexes
The structural biogenesis and functional proficiency of the multiheteromeric complexes forming the mitochondrial oxidative… Expand
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Highly Cited
2013
Highly Cited
2013
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
Objective: To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the… Expand
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Highly Cited
2013
Highly Cited
2013
The Evolutionarily Conserved Iron-Sulfur Protein INDH Is Required for Complex I Assembly and Mitochondrial Translation in Arabidopsis[C][W][OPEN]
Respiratory complex I is composed of 48 protein subunits of both nuclear and mitochondrial genetic origin. This study provides a… Expand
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2013
2013
Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development
Ndufaf5 is a conserved protein mutated in patients with mitochondrial complex I (CI) disease. A Dictyostelium model lacking… Expand
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Highly Cited
2012
Highly Cited
2012
Next‐generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation
Next‐generation sequencing (NGS) is transitioning from being a research tool to being used in routine genetic diagnostics, where… Expand
2012
2012
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations
A 23-year-old man had progressive nystagmus, cerebellar ataxia, pyramidal signs, and slurred speech since toddlerhood. MRI showed… Expand
Highly Cited
2012
Highly Cited
2012
Genome-wide association study of antipsychotic induced QTc interval prolongation
QT prolongation is associated with increased risk of cardiac arrhythmias. Identifying the genetic variants that mediate… Expand
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2012
2012
A three-dimensional topology of complex I inferred from evolutionary correlations
BackgroundThe quaternary structure of eukaryotic NADH:ubiquinone oxidoreductase (complex I), the largest complex of the oxidative… Expand
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Highly Cited
2010
Highly Cited
2010
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Discovering the molecular basis of mitochondrial respiratory chain disease is challenging given the large number of both… Expand
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Highly Cited
2009
Highly Cited
2009
Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I
ABSTRACT Respiratory complex I (NADH:ubiquinone oxidoreductase) is a large mitochondrial inner membrane enzyme consisting of 45… Expand
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