Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
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Thomas Meitinger | Guy Lenaers | Patrizia Amati-Bonneau | Vincent Procaccio | Pascal Reynier | Lorenzo D Botto | Holger Prokisch | Jens Daniel | Eva Liebau | Dominique Bonneau | Sylvie N'Guyen | Rima Nabbout | T. Meitinger | T. Strom | H. Prokisch | E. Liebau | Majida Charif | E. Colin | D. Bonneau | P. Amati‐Bonneau | G. Lenaers | P. Reynier | V. Procaccio | T. Haack | R. Nabbout | José Antonio Mora-Lorca | A. Miranda-Vizuete | S. Khiati | A. Ziegler | G. Hoffmann | S. N'guyen | L. Botto | Georg F Hoffmann | Tobias B Haack | Tim M Strom | Antonio Miranda-Vizuete | Estelle Colin | Alban Ziegler | Jamal Wakim | Aurora Scrivo | Salim Khiati | Anne-Sophie Denommé | Majida Charif | Kyrieckos A Aleck | Claudia Lena Herper | Charlotte Sophia Kaiser | Birgit Assmann | Stine Christ | Pascale Bomont | P. Bomont | C. Kaiser | K. Aleck | B. Assmann | J. Wakim | Jens Daniel | A. Scrivo | Anne-Sophie Denommé | S. Christ | M. Charif | Aurora Scrivo | G. Hoffmann | Aurora Scrivo
[1] Keiji Tanaka,et al. The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice , 2011, Nature communications.
[2] I. Scheffer,et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy , 1995, Nature Genetics.
[3] H. Liu,et al. Ufmylation and FATylation pathways are downregulated in human alcoholic and nonalcoholic steatohepatitis, and mice fed DDC, where Mallory-Denk bodies (MDBs) form. , 2014, Experimental and molecular pathology.
[4] D. Behar,et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 , 2014, Human Genetics.
[5] D. Behar,et al. Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 , 2015, Human Genetics.
[6] Jong Ho Park,et al. Ubiquitin-Fold Modifier 1 Acts as a Positive Regulator of Breast Cancer , 2015, Front. Endocrinol..
[7] M. Sone,et al. Suppression of the novel ER protein Maxer by mutant ataxin‐1 in Bergman glia contributes to non‐cell‐autonomous toxicity , 2010, The EMBO journal.
[8] B. Pace,et al. UFBP1, a Key Component of the Ufm1 Conjugation System, Is Essential for Ufmylation-Mediated Regulation of Erythroid Development , 2015, PLoS genetics.
[9] U. Rutishauser. Polysialic acid in the plasticity of the developing and adult vertebrate nervous system , 2008, Nature Reviews Neuroscience.
[10] Dimitar Valkov,et al. FIM, a Novel FTIR-Based Imaging Method for High Throughput Locomotion Analysis , 2013, PloS one.
[11] T. Kodama,et al. Lesions of Acetylcholine Neurons in Refractory Epilepsy , 2012, ISRN neurology.
[12] N. Munakata. [Genetics of Caenorhabditis elegans]. , 1989, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.
[13] Michael R. Taylor,et al. Pentylenetetrazole induced changes in zebrafish behavior, neural activity and c-fos expression , 2005, Neuroscience.
[14] R. Beech,et al. Levamisole receptors: a second awakening. , 2012, Trends in parasitology.
[15] Andrei L. Turinsky,et al. A Census of Human Soluble Protein Complexes , 2012, Cell.
[16] Keiji Tanaka,et al. A novel protein‐conjugating system for Ufm1, a ubiquitin‐fold modifier , 2004, The EMBO journal.
[17] Jens Daniel,et al. The Ufm1 Cascade , 2014, Cells.
[18] Evan J. Kyzar,et al. Perspectives of zebrafish models of epilepsy: What, how and where next? , 2012, Brain Research Bulletin.
[19] Seung Hun Han,et al. A Novel LZAP-binding Protein, NLBP, Inhibits Cell Invasion* , 2010, The Journal of Biological Chemistry.
[20] E. Haan,et al. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. , 2014, American journal of human genetics.
[21] Michael Dybbs,et al. An RNAi Screen Identifies Genes that Regulate GABA Synapses , 2008, Neuron.
[22] B. Pace,et al. RCAD/Ufl1, a Ufm1 E3 ligase, is essential for hematopoietic stem cell function and murine hematopoiesis , 2015, Cell Death and Differentiation.
[23] E. Liebau,et al. The Ubiquitin-fold Modifier 1 (Ufm1) Cascade of Caenorhabditis elegans , 2013, The Journal of Biological Chemistry.
[24] M. Granvik,et al. Ubiquitin Fold Modifier 1 (UFM1) and Its Target UFBP1 Protect Pancreatic Beta Cells from ER Stress-Induced Apoptosis , 2011, PloS one.
[25] A. Becchetti,et al. The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy , 2015, Front. Physiol..
[26] D. Bertrand,et al. Nicotinic acetylcholine receptors and nicotinic cholinergic mechanisms of the central nervous system. , 2007, Annual review of pharmacology and toxicology.
[27] B. Schmitz,et al. Cytoplasmic domain of NCAM140 interacts with ubiquitin-fold modifier-conjugating enzyme-1 (Ufc1). , 2014, Experimental cell research.
[28] E. Yeh,et al. Ubiquitin-Like Proteins , 2013 .
[29] C. Cianchetti,et al. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. , 2006, American journal of human genetics.
[30] B. Tang,et al. UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia , 2016, PLoS ONE.
[31] Honglin Li,et al. A Novel C53/LZAP-interacting Protein Regulates Stability of C53/LZAP and DDRGK Domain-containing Protein 1 (DDRGK1) and Modulates NF-κB Signaling* , 2010, The Journal of Biological Chemistry.
[32] L. Rogers,et al. Activation of endoplasmic reticulum stress response during the development of ischemic heart disease. , 2006, American journal of physiology. Heart and circulatory physiology.
[33] J. Kwon,et al. Overexpression of a novel regulator of p120 catenin, NLBP, promotes lung adenocarcinoma proliferation , 2013, Cell cycle.
[34] K. Caldwell,et al. Paradigms for pharmacological characterization of C. elegans synaptic transmission mutants. , 2008, Journal of visualized experiments : JoVE.