Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
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Kazuki Z. Yamamoto | Y. Okada | M. Sekijima | I. Nishino | K. Higasa | T. Kurashige | M. Okubo | S. Noguchi | S. Hayashi | Harumasa Nakamura | M. Mori-Yoshimura | Y. Oya | F. Matsuda | M. Ogawa | K. Sonehara | W. Yoshioka | A. Iida
[1] S. Ovchinnikov,et al. ColabFold: making protein folding accessible to all , 2022, Nature Methods.
[2] Kyuto Sonehara,et al. Obelisc: an identical-by-descent mapping tool based on SNP streak , 2020, Bioinform..
[3] Robert D. Finn,et al. MGnify: the microbiome analysis resource in 2020 , 2019, Nucleic Acids Res..
[4] W. Gahl,et al. Open-Label Phase 2 Clinical Trial of ManNAc for GNE Myopathy (S23.008) , 2019 .
[5] I. Nishino,et al. GNE genotype explains 20% of phenotypic variability in GNE myopathy , 2019, Neurology: Genetics.
[6] M. Tarnopolsky,et al. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy , 2019, Neurology.
[7] I. Nishino,et al. GNE myopathy in Chinese population: hotspot and novel mutations , 2018, Journal of Human Genetics.
[8] M Mirdita,et al. MMseqs2 desktop and local web server app for fast, interactive sequence searches , 2018, bioRxiv.
[9] I. Nishino,et al. Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion , 2017, Neuromuscular Disorders.
[10] I. Nonaka,et al. Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy , 2017, Human molecular genetics.
[11] Vijay S. Pande,et al. OpenMM 7: Rapid development of high performance algorithms for molecular dynamics , 2016, bioRxiv.
[12] Maria Jesus Martin,et al. Uniclust databases of clustered and deeply annotated protein sequences and alignments , 2016, Nucleic Acids Res..
[13] I. Nishino,et al. Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele , 2016, Journal of Human Genetics.
[14] Chi-Hung Huang,et al. Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis , 2016, Scientific Reports.
[15] K. Okamura,et al. Human genetic variation database, a reference database of genetic variations in the Japanese population , 2016, Journal of Human Genetics.
[16] Steven L Salzberg,et al. HISAT: a fast spliced aligner with low memory requirements , 2015, Nature Methods.
[17] S. Salzberg,et al. StringTie enables improved reconstruction of a transcriptome from RNA-seq reads , 2015, Nature Biotechnology.
[18] T. Ogata,et al. Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach , 2015, Journal of Human Genetics.
[19] N. Yonemoto,et al. Nationwide patient registry for GNE myopathy in Japan , 2014, Orphanet Journal of Rare Diseases.
[20] I. Nonaka,et al. Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. , 2014, Brain : a journal of neurology.
[21] W. Gahl,et al. Mutation Update for GNE Gene Variants Associated with GNE Myopathy , 2014, Human mutation.
[22] I. Nishino,et al. GNE myopathy: current update and future therapy , 2014, Journal of Neurology, Neurosurgery & Psychiatry.
[23] Joshua C. Denny,et al. Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene , 2014, PloS one.
[24] I. Nonaka,et al. Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy) , 2013, Journal of Neurology, Neurosurgery & Psychiatry.
[25] Y. Hayashi,et al. Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy) , 2013, Orphanet Journal of Rare Diseases.
[26] Steven L Salzberg,et al. Fast gapped-read alignment with Bowtie 2 , 2012, Nature Methods.
[27] Colin N. Dewey,et al. RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome , 2011, BMC Bioinformatics.
[28] E. Wang,et al. Analysis and design of RNA sequencing experiments for identifying isoform regulation , 2010, Nature Methods.
[29] I. Nonaka,et al. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model , 2009, Nature Medicine.
[30] Y. Hayashi,et al. Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM. , 2008, Physiological genomics.
[31] R. Horstkorte,et al. Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice , 2007, Glycoconjugate Journal.
[32] I. Nonaka,et al. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. , 2007, Human molecular genetics.
[33] K. Yarema,et al. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. , 2005, Biochemical and biophysical research communications.
[34] I. Nonaka,et al. Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles* , 2004, Journal of Biological Chemistry.
[35] S. Mitrani‐Rosenbaum,et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy , 2003, Neurology.
[36] Tsviya Olender,et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy , 2001, Nature Genetics.
[37] H. Ogura,et al. Determination of mono-O-acetylated N-acetylneuraminic acids in human and rat sera by fluorometric high-performance liquid chromatography. , 1989, Analytical biochemistry.
[38] P. Majumder,et al. Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. , 2018, Journal of neuromuscular diseases.