Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
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Title
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Authors
Keywords
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Journal
Nature Communications
Volume 13, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-01-10
DOI
10.1038/s41467-021-27759-7
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Note: Only part of the references are listed.- MYC regulates ribosome biogenesis and mitochondrial gene expression programs through its interaction with host cell factor–1
- (2021) Tessa M Popay et al. eLife
- A landmark-free morphometrics pipeline for high-resolution phenotyping: application to a mouse model of Down syndrome
- (2021) Nicolas Toussaint et al. DEVELOPMENT
- THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation
- (2020) Harmonie Dehaene et al. PLoS One
- The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology
- (2020) Jennifer L Sloan et al. HUMAN MOLECULAR GENETICS
- Ribosomopathies: New Therapeutic Perspectives
- (2020) Emilien Orgebin et al. Cells
- Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type
- (2020) Tiffany Chern et al. DEVELOPMENTAL BIOLOGY
- Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation
- (2019) D. Sean Froese et al. JOURNAL OF INHERITED METABOLIC DISEASE
- SunRiSE – measuring translation elongation at single-cell resolution by means of flow cytometry
- (2018) Rafael J. Argüello et al. JOURNAL OF CELL SCIENCE
- Heterogeneity and specialized functions of translation machinery: from genes to organisms
- (2018) Naomi R. Genuth et al. NATURE REVIEWS GENETICS
- gpGrouper: A Peptide Grouping Algorithm for Gene-Centric Inference and Quantitation of Bottom-Up Proteomics Data
- (2018) Alexander B Saltzman et al. MOLECULAR & CELLULAR PROTEOMICS
- Small and Large Ribosomal Subunit Deficiencies Lead to Distinct Gene Expression Signatures that Reflect Cellular Growth Rate
- (2018) Ze Cheng et al. MOLECULAR CELL
- Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
- (2017) Anita M. Quintana et al. HUMAN MOLECULAR GENETICS
- Ribosomopathies: There’s strength in numbers
- (2017) Eric W. Mills et al. SCIENCE
- Ronin Governs Early Heart Development by Controlling Core Gene Expression Programs
- (2017) Jun Fujita et al. Cell Reports
- Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations inZNF143, Which Codes for a Transcriptional Activator
- (2016) Mihaela Pupavac et al. HUMAN MUTATION
- Ribosomal proteins produced in excess are degraded by the ubiquitin–proteasome system
- (2016) Min-Kyung Sung et al. MOLECULAR BIOLOGY OF THE CELL
- RONIN Is an Essential Transcriptional Regulator of Genes Required for Mitochondrial Function in the Developing Retina
- (2016) Ross A. Poché et al. Cell Reports
- Translating the Genome in Time and Space: Specialized Ribosomes, RNA Regulons, and RNA-Binding Proteins
- (2015) Zhen Shi et al. Annual Review of Cell and Developmental Biology
- Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
- (2015) M. Gérard et al. European Journal of Medical Genetics
- Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12Trafficking
- (2015) D. Sean Froese et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genomic Determinants of THAP11/ZNF143/HCFC1 Complex Recruitment to Chromatin
- (2015) Aurimas Vinckevicius et al. MOLECULAR AND CELLULAR BIOLOGY
- limma powers differential expression analyses for RNA-sequencing and microarray studies
- (2015) Matthew E. Ritchie et al. NUCLEIC ACIDS RESEARCH
- Interaction of MYC with host cell factor-1 is mediated by the evolutionarily conserved Myc box IV motif
- (2015) L R Thomas et al. ONCOGENE
- Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression
- (2014) Anita M. Quintana et al. DEVELOPMENTAL BIOLOGY
- Altered translation of GATA1 in Diamond-Blackfan anemia
- (2014) Leif S Ludwig et al. NATURE MEDICINE
- RPLP1, a Crucial Ribosomal Protein for Embryonic Development of the Nervous System
- (2014) Laura Perucho et al. PLoS One
- Astrocyte Development and Heterogeneity
- (2014) Omer Ali Bayraktar et al. Cold Spring Harbor Perspectives in Biology
- An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
- (2013) Hung-Chun Yu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Lessons in biology from patients with inborn errors of vitamin B12 metabolism
- (2013) David Watkins et al. BIOCHIMIE
- The widely used Wnt1-Cre transgene causes developmental phenotypes by ectopic activation of Wnt signaling
- (2013) Ace E. Lewis et al. DEVELOPMENTAL BIOLOGY
- HCFC1 is a common component of active human CpG-island promoters and coincides with ZNF143, THAP11, YY1, and GABP transcription factor occupancy
- (2013) J. Michaud et al. GENOME RESEARCH
- Integrated proteomic analysis of post-translational modifications by serial enrichment
- (2013) Philipp Mertins et al. NATURE METHODS
- Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
- (2013) Dawn E. Watkins-Chow et al. PLoS Genetics
- Structure of MMACHC Reveals an Arginine-Rich Pocket and a Domain-Swapped Dimer for Its B12 Processing Function
- (2012) D. Sean Froese et al. BIOCHEMISTRY
- STAR: ultrafast universal RNA-seq aligner
- (2012) Alexander Dobin et al. BIOINFORMATICS
- A Transcriptional Regulatory Role of the THAP11-HCF-1 Complex in Colon Cancer Cell Function
- (2012) J. B. Parker et al. MOLECULAR AND CELLULAR BIOLOGY
- Fast gapped-read alignment with Bowtie 2
- (2012) Ben Langmead et al. NATURE METHODS
- Specialized ribosomes: a new frontier in gene regulation and organismal biology
- (2012) Shifeng Xue et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A Stable Cranial Neural Crest Cell Line from Mouse
- (2012) Mamoru Ishii et al. STEM CELLS AND DEVELOPMENT
- Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning
- (2011) Nadya Kondrashov et al. CELL
- Melanocortin-4 Receptors Expressed by Cholinergic Neurons Regulate Energy Balance and Glucose Homeostasis
- (2011) Jari Rossi et al. Cell Metabolism
- Structural Basis of Multifunctionality in a Vitamin B12-processing Enzyme
- (2011) Markos Koutmos et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Leptin receptor expression in hindbrain Glp-1 neurons regulates food intake and energy balance in mice
- (2011) Michael M. Scott et al. JOURNAL OF CLINICAL INVESTIGATION
- Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes
- (2011) Nuria Carrillo-Carrasco et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
- (2011) Nuria Carrillo-Carrasco et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models
- (2011) Tamara Terzian et al. JOURNAL OF PATHOLOGY
- Ronin/Hcf-1 binds to a hyperconserved enhancer element and regulates genes involved in the growth of embryonic stem cells
- (2010) M. Dejosez et al. GENES & DEVELOPMENT
- Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities
- (2010) Sven Heinz et al. MOLECULAR CELL
- Emx2 and Foxg1 Inhibit Gliogenesis and Promote Neuronogenesis
- (2010) Marco Brancaccio et al. STEM CELLS
- The tinker, tailor, soldier in intracellular B12 trafficking
- (2009) Ruma Banerjee et al. CURRENT OPINION IN CHEMICAL BIOLOGY
- The p53 Tumor Suppressor Causes Congenital Malformations in Rpl24-Deficient Mice and Promotes Their Survival
- (2009) M. Barkic et al. MOLECULAR AND CELLULAR BIOLOGY
- Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product
- (2009) Luciana Hannibal et al. MOLECULAR GENETICS AND METABOLISM
- Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte
- (2009) James D. Weisfeld-Adams et al. MOLECULAR GENETICS AND METABOLISM
- Cranial bone morphometric study among mouse strains
- (2008) Minoru Kawakami et al. BMC EVOLUTIONARY BIOLOGY
- Ronin Is Essential for Embryogenesis and the Pluripotency of Mouse Embryonic Stem Cells
- (2008) Marion Dejosez et al. CELL
- Cell growth suppression by thanatos-associated protein 11(THAP11) is mediated by transcriptional downregulation of c-Myc
- (2008) C-Y Zhu et al. CELL DEATH AND DIFFERENTIATION
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
- (2008) Kelly A McGowan et al. NATURE GENETICS
- Mapping and quantifying mammalian transcriptomes by RNA-Seq
- (2008) Ali Mortazavi et al. NATURE METHODS
- Transcription-independent functions of MYC: regulation of translation and DNA replication
- (2008) Michael D. Cole et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Decyanation of vitamin B12 by a trafficking chaperone
- (2008) J. Kim et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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