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FBXL4 gene

Known as: F-box and leucine-rich repeat protein 4, FBL5, FBXL4 
 
National Institutes of Health

Papers overview

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2020
2020
Pathogenic variants in FBXL4 cause a severe encephalopathic syndrome associated with mtDNA depletion and deficient oxidative… Expand
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2019
2019
Mutations in FBXL4 (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial protein with an unknown function… Expand
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2017
2017
The timing of sleep is tightly governed by the circadian clock, which contains a negative transcriptional feedback loop and… Expand
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2017
2017
Prostate cancer is the most common cancer among western men, with a significant mortality and morbidity reported for advanced… Expand
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2017
2017
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early onset… Expand
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Review
2017
Review
2017
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis… Expand
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2016
2016
Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with… Expand
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2016
2016
Mitochondrial DNA depletion syndromes (MTDPS) represent a clinically and genetically heterogeneous group of autosomal recessive… Expand
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Highly Cited
2013
Highly Cited
2013
Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined… Expand
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Highly Cited
2013
Highly Cited
2013
Nuclear genetic disorders causing mitochondrial DNA (mtDNA) depletion are clinically and genetically heterogeneous, and the… Expand
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