Published in Mol Brain on April 13, 2017
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol Syst Biol (2011) 28.61
Tissue-specific differences in human transfer RNA expression. PLoS Genet (2006) 4.10
The expanding RNA polymerase III transcriptome. Trends Genet (2007) 3.07
A dual program for translation regulation in cellular proliferation and differentiation. Cell (2014) 2.38
Maf1 is an essential mediator of diverse signals that repress RNA polymerase III transcription. Mol Cell (2002) 2.29
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19
RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration. Science (2014) 2.07
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology (2014) 1.71
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.67
Primary structure, neural-specific expression, and dendritic location of human BC200 RNA. J Neurosci (1993) 1.67
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet (2013) 1.59
Vanishing white matter disease. Lancet Neurol (2006) 1.55
Mutation of RNA Pol III subunit rpc2/polr3b Leads to Deficiency of Subunit Rpc11 and disrupts zebrafish digestive development. PLoS Biol (2007) 1.54
Transcription by RNA polymerase III: more complex than we thought. Nat Rev Genet (2011) 1.51
Dual role of the C34 subunit of RNA polymerase III in transcription initiation. EMBO J (1997) 1.51
Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS. J Neurosci (2003) 1.48
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet (2013) 1.46
A universally conserved region of the largest subunit participates in the active site of RNA polymerase III. EMBO J (1995) 1.45
Digital genome-wide ncRNA expression, including SnoRNAs, across 11 human tissues using polyA-neutral amplification. PLoS One (2010) 1.42
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell (2014) 1.40
Motor coordination and balance in rodents. Curr Protoc Neurosci (2001) 1.39
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.38
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell (2014) 1.33
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet (2010) 1.32
Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. EMBO J (2014) 1.31
Oligodendrocyte development and the onset of myelination in the human fetal brain. Front Neuroanat (2009) 1.29
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet (2011) 1.24
mTORC1 directly phosphorylates and regulates human MAF1. Mol Cell Biol (2010) 1.24
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci U S A (2012) 1.23
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet (2002) 1.21
Mutations in the alpha-amanitin conserved domain of the largest subunit of yeast RNA polymerase III affect pausing, RNA cleavage and transcriptional transitions. EMBO J (1996) 1.20
Assessment of motor balance and coordination in mice using the balance beam. J Vis Exp (2011) 1.16
New small nuclear RNA gene-like transcriptional units as sources of regulatory transcripts. PLoS Genet (2006) 1.14
An Alu-like RNA promotes cell differentiation and reduces malignancy of human neuroblastoma cells. FASEB J (2010) 1.08
Loss of the RNA polymerase III repressor MAF1 confers obesity resistance. Genes Dev (2015) 1.08
17A, a novel non-coding RNA, regulates GABA B alternative splicing and signaling in response to inflammatory stimuli and in Alzheimer disease. Neurobiol Dis (2010) 1.07
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol (2013) 1.07
C57BL/6J congenic Prp-TDP43A315T mice develop progressive neurodegeneration in the myenteric plexus of the colon without exhibiting key features of ALS. Brain Res (2013) 1.06
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol (2012) 1.04
Neuronal untranslated BC1 RNA: targeted gene elimination in mice. Mol Cell Biol (2003) 1.03
"Skittish" Abca2 knockout mice display tremor, hyperactivity, and abnormal myelin ultrastructure in the central nervous system. Mol Cell Biol (2006) 1.01
RNA polymerase III drives alternative splicing of the potassium channel-interacting protein contributing to brain complexity and neurodegeneration. J Cell Biol (2011) 1.01
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res (2015) 0.94
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun (2015) 0.92
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. Hum Mol Genet (2014) 0.91
RNA Polymerase III Output Is Functionally Linked to tRNA Dimethyl-G26 Modification. PLoS Genet (2015) 0.91
White matter matters. Sci Am (2008) 0.91
Mutations in RARS cause hypomyelination. Ann Neurol (2014) 0.90
Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. PLoS Genet (2011) 0.89
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. Brain Dev (2013) 0.86
More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol (2013) 0.86
A novel snRNA-like transcript affects amyloidogenesis and cell cycle progression through perturbation of Fe65L1 (APBB2) alternative splicing. Biochim Biophys Acta (2013) 0.85
Effect of genetic background on the dystrophic phenotype in mdx mice. Hum Mol Genet (2015) 0.84
Adopting the good reFLEXes when generating conditional alterations in the mouse genome. Transgenic Res (2007) 0.84
Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III. J Neurol Sci (2012) 0.84
SYNCRIP, a component of dendritically localized mRNPs, binds to the translation regulator BC200 RNA. J Neurochem (2007) 0.84
Human MAF1 targets and represses active RNA polymerase III genes by preventing recruitment rather than inducing long-term transcriptional arrest. Genome Res (2016) 0.83
Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology (2016) 0.82
Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy. PLoS Genet (2014) 0.81
Discovery of cell compartment specific protein-protein interactions using affinity purification combined with tandem mass spectrometry. J Proteome Res (2012) 0.80
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet J Rare Dis (2015) 0.80
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet (2016) 0.80
POLR3A and POLR3B Mutations in Unclassified Hypomyelination. Neuropediatrics (2015) 0.79
Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature. Case Rep Endocrinol (2015) 0.78
RNA Polymerase III Advances: Structural and tRNA Functional Views. Trends Biochem Sci (2016) 0.77
Down-regulation of 21A Alu RNA as a tool to boost proliferation maintaining the tissue regeneration potential of progenitor cells. Cell Cycle (2016) 0.76
Heterogeneity in oligodendroglia: Is it relevant to mouse models and human disease? J Neurosci Res (2016) 0.76
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. Hum Mol Genet (2016) 0.76
Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency. Neurobiol Dis (2016) 0.76
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description. BMC Med Genet (2015) 0.76
tRNA biology in the omics era: Stress signalling dynamics and cancer progression. Bioessays (2016) 0.76
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts. Clin Neuroradiol (2015) 0.76
Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. Neurology (2013) 0.75