Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
暂无分享,去创建一个
J. Hoenicka | X. Salvatella | C. Ortez | C. Batlle | C. Jou | D. Natera-de Benito | J. Expósito-Escudero | L. Carrera-García | A. Nascimento | F. Palau | M. Roldán | A. Codina | C. Garcia-Cabau | Jonathan Olival
[1] B. Udd,et al. Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11 , 2022, Annals of clinical and translational neurology.
[2] Courtney E. French,et al. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy , 2022, Nature Communications.
[3] Qiming Sun,et al. Aberrant Stress Granule Dynamics and Aggrephagy in ALS Pathogenesis , 2021, Cells.
[4] Fangfang Zhou,et al. Liquid–liquid phase separation in human health and diseases , 2021, Signal Transduction and Targeted Therapy.
[5] A. López de Munain,et al. The Skeletal Muscle Emerges as a New Disease Target in Amyotrophic Lateral Sclerosis , 2021, Journal of personalized medicine.
[6] A. Martinez,et al. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant , 2021, Annals of neurology.
[7] Hadjara Sidibé,et al. The multi‐functional RNA‐binding protein G3BP1 and its potential implication in neurodegenerative disease , 2020, Journal of neurochemistry.
[8] Carlos Loucera,et al. CSVS, a crowdsourcing database of the Spanish population genetic variability , 2020, Nucleic Acids Res..
[9] J. Toivonen,et al. What skeletal muscle has to say in amyotrophic lateral sclerosis: Implications for therapy , 2020, British journal of pharmacology.
[10] Yong Ho Kim,et al. ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics , 2019, Science Translational Medicine.
[11] Michael S. Fernandopulle,et al. RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether , 2019, Cell.
[12] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[13] Anthony A. Hyman,et al. A User’s Guide for Phase Separation Assays with Purified Proteins , 2018, Journal of molecular biology.
[14] Gregory M. Cooper,et al. CADD: predicting the deleteriousness of variants throughout the human genome , 2018, Nucleic Acids Res..
[15] Alexandros Kouris,et al. VarSome: the human genomic variant search engine , 2018, bioRxiv.
[16] L. Cui,et al. ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia , 2018, Neurology: Genetics.
[17] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[18] D. Ito,et al. RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration , 2017, Science Translational Medicine.
[19] Robert H. Brown,et al. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis , 2017, Science Translational Medicine.
[20] A. Pestronk,et al. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles , 2015, Neurology.
[21] Yongwook Choi,et al. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels , 2015, Bioinform..
[22] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[23] Colin Campbell,et al. An integrative approach to predicting the functional effects of non-coding and coding sequence variation , 2015, Bioinform..
[24] M. Huynen,et al. Intrinsically Disordered Segments Affect Protein Half-Life in the Cell and during Evolution , 2014, Cell reports.
[25] Jiasheng Wang,et al. Annexin A11 in disease. , 2014, Clinica chimica acta; international journal of clinical chemistry.
[26] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[27] Emily A. Scarborough,et al. Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS , 2013 .
[28] Michael Benatar,et al. Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS , 2013, Nature.
[29] Jing Hu,et al. SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..
[30] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[31] Richard Durbin,et al. Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..
[32] J. Beckmann,et al. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. , 2009, American journal of human genetics.
[33] X. Daura,et al. AGGRESCAN: a server for the prediction and evaluation of "hot spots" of aggregation in polypeptides , 2007, BMC Bioinformatics.
[34] S. Moss,et al. Annexins: linking Ca2+ signalling to membrane dynamics , 2005, Nature Reviews Molecular Cell Biology.
[35] Andreas Krause,et al. A standard curve based method for relative real time PCR data processing , 2005, BMC Bioinformatics.
[36] S. Moss,et al. The annexins , 2004, Genome Biology.
[37] A. Pestronk,et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein , 2004, Nature Genetics.
[38] L. Davis,et al. Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2 , 2000, Annals of neurology.
[39] R. Huber,et al. Three-dimensional structure of annexins , 1997, Cellular and Molecular Life Sciences CMLS.
[40] Luis Serrano,et al. Elucidating the folding problem of helical peptides using empirical parameters , 1994, Nature Structural Biology.
[41] Marinos C. Dalakas,et al. Muscle biopsy — a practical approach , 1986, The Ulster Medical Journal.
[42] P. Romero,et al. Sequence complexity of disordered protein , 2001, Proteins.