Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.
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K. Xia | Jinchen Li | B. Tang | Ji-feng Guo | Hong Jiang | Xinxiang Yan | Weihong Song | Lu Shen | Junling Wang | Bin Jiao | Xixi Liu | Yafang Zhou | Zhan-fang Sun | Jiada Li | Juelu Wang | Fang Cai | X. Liao | Yun Zhang | Lina Guo | Xi-xi Liu
[1] Eden R Martin,et al. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing , 2019, Nature Genetics.
[2] M. Fornage,et al. Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation , 2018, Molecular Psychiatry.
[3] Yi Zhang,et al. Performance evaluation of pathogenicity-computation methods for missense variants , 2018, Nucleic acids research.
[4] C. Rankin,et al. A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling , 2018, Molecular Psychiatry.
[5] R. Redon,et al. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls , 2017, Neurobiology of Aging.
[6] Weihong Song,et al. BACE1 Cleavage Site Selection Critical for Amyloidogenesis and Alzheimer's Pathogenesis , 2017, The Journal of Neuroscience.
[7] Weihong Song,et al. Islet amyloid polypeptide: Another key molecule in Alzheimer’s pathogenesis? , 2017, Progress in Neurobiology.
[8] Jia Gu,et al. AfterQC: automatic filtering, trimming, error removing and quality control for fastq data , 2017, BMC Bioinformatics.
[9] C. Eckman,et al. Major amyloid-β–degrading enzymes, endothelin-converting enzyme-2 and neprilysin, are expressed by distinct populations of GABAergic interneurons in hippocampus and neocortex , 2016, Neurobiology of Aging.
[10] Michelle K. Lupton,et al. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease , 2016, PloS one.
[11] Ricardo Villamarín-Salomón,et al. ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..
[12] R. Quirion,et al. Regional and sub-regional differences in hippocampal GABAergic neuronal vulnerability in the TgCRND8 mouse model of Alzheimer's disease , 2015, Front. Aging Neurosci..
[13] J. Haines,et al. A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death , 2014, Nature Medicine.
[14] J. McLaurin,et al. α-Melanocyte Stimulating Hormone Prevents GABAergic Neuronal Loss and Improves Cognitive Function in Alzheimer's Disease , 2014, The Journal of Neuroscience.
[15] S. Itohara,et al. Single App knock-in mouse models of Alzheimer's disease , 2014, Nature Neuroscience.
[16] Nick C Fox,et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease , 2013, Nature Genetics.
[17] M. Staufenbiel,et al. Amyloid‐β protein (Aβ) Glu11 is the major β‐secretase site of β‐site amyloid‐β precursor protein‐cleaving enzyme 1(BACE1), and shifting the cleavage site to Aβ Asp1 contributes to Alzheimer pathogenesis , 2013, The European journal of neuroscience.
[18] A. Hofman,et al. Variant of TREM2 associated with the risk of Alzheimer's disease. , 2013, The New England journal of medicine.
[19] Ayae Kinoshita,et al. Inhibition of GSK3β-mediated BACE1 expression reduces Alzheimer-associated phenotypes. , 2013, The Journal of clinical investigation.
[20] E. Eckman,et al. Endothelin-converting Enzymes Degrade Intracellular β-Amyloid Produced within the Endosomal/Lysosomal Pathway and Autophagosomes* , 2013, The Journal of Biological Chemistry.
[21] P. Dutar,et al. Somatostatinergic systems: an update on brain functions in normal and pathological aging , 2012, Front. Endocrin..
[22] I. Deary,et al. The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk , 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[23] Lars Bertram,et al. Relationship between genetic risk factors and markers for Alzheimer's disease pathology. , 2012, Biomarkers in medicine.
[24] M. Rieder,et al. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.
[25] R. Rodriguiz,et al. Mice deficient in endothelin‐converting enzyme‐2 exhibit abnormal responses to morphine and altered peptide levels in the spinal cord , 2011, Journal of neurochemistry.
[26] K. Xia,et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias , 2011, Brain : a journal of neurology.
[27] Xin Jin,et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. , 2010, Brain : a journal of neurology.
[28] Jana Marie Schwarz,et al. MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.
[29] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[30] S. Love,et al. Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta. , 2009, The American journal of pathology.
[31] N. Muzyczka,et al. Adeno-associated viral (AAV) serotype 5 vector mediated gene delivery of endothelin-converting enzyme reduces Abeta deposits in APP + PS1 transgenic mice. , 2008, Molecular therapy : the journal of the American Society of Gene Therapy.
[32] M. Owen,et al. SORL1 variants and risk of late-onset Alzheimer’s disease , 2008, Neurobiology of Disease.
[33] Hong Qing,et al. Hypoxia facilitates Alzheimer's disease pathogenesis by up-regulating BACE1 gene expression , 2006, Proceedings of the National Academy of Sciences.
[34] J. F. López-Téllez,et al. Early neuropathology of somatostatin/NPY GABAergic cells in the hippocampus of a PS1×APP transgenic model of Alzheimer's disease , 2006, Neurobiology of Aging.
[35] H. Qing,et al. Degradation of BACE by the ubiquitin‐proteasome pathway , 2004, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[36] R. Petersen,et al. Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Aβ42 levels and risk for Alzheimer disease , 2004, Human mutation.
[37] L. Devi,et al. Characterization of Endothelin-converting Enzyme-2 , 2003, The Journal of Biological Chemistry.
[38] L. Marlow,et al. Alzheimer's Disease β-Amyloid Peptide Is Increased in Mice Deficient in Endothelin-converting Enzyme* , 2003, The Journal of Biological Chemistry.
[39] C. Iadecola,et al. Cerebrovascular autoregulation is profoundly impaired in mice overexpressing amyloid precursor protein. , 2002, American journal of physiology. Heart and circulatory physiology.
[40] M. Matsuo,et al. Molecular isolation and characterization of novel four subisoforms of ECE-2. , 2002, Biochemical and biophysical research communications.
[41] George A. Carlson,et al. Alterations in Cerebral Blood Flow and Glucose Utilization in Mice Overexpressing the Amyloid Precursor Protein , 2002, Neurobiology of Disease.
[42] A. Igarashi,et al. Angiotensin-converting Enzyme Degrades Alzheimer Amyloid β-Peptide (Aβ); Retards Aβ Aggregation, Deposition, Fibril Formation; and Inhibits Cytotoxicity* , 2001, The Journal of Biological Chemistry.
[43] C. Eckman,et al. Degradation of the Alzheimer's Amyloid β Peptide by Endothelin-converting Enzyme* , 2001, The Journal of Biological Chemistry.
[44] T. Saido,et al. Metabolic Regulation of Brain Aβ by Neprilysin , 2001, Science.
[45] S. Henikoff,et al. Predicting deleterious amino acid substitutions. , 2001, Genome research.
[46] W. Jagust. Neuroimaging in dementia. , 2000, Neurologic clinics.
[47] M. Mullan,et al. Characteristics of thein VitroVasoactivity of β-Amyloid Peptides , 1998, Experimental Neurology.
[48] K. Tanzawa,et al. Rat endothelin-converting enzyme-1 forms a dimer through Cys412 with a similar catalytic mechanism and a distinct substrate binding mechanism compared with neutral endopeptidase-24.11. , 1996, The Biochemical journal.
[49] M. Yanagisawa,et al. ECE-1: A membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1 , 1994, Cell.
[50] G. Glenner,et al. Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein , 1984 .
[51] S. Folstein,et al. “Mini-mental state”: A practical method for grading the cognitive state of patients for the clinician , 1975 .
[52] J. Jia,et al. Mini-Mental State Examination in Elderly Chinese: A Population-Based Normative Study. , 2016, Journal of Alzheimer's disease : JAD.
[53] Seunggeun Lee,et al. An efficient resampling method for calibrating single and gene-based rare variant association analysis in case-control studies. , 2016, Biostatistics.
[54] P. S. St George-Hyslop,et al. This month in archives of neurology. , 2012, Archives of neurology.
[55] Claude-Alain H. Roten,et al. Theoretical and practical advances in genome halving , 2004 .
[56] M. Mullan,et al. Characteristics of the in vitro vasoactivity of beta-amyloid peptides. , 1998, Experimental neurology.
[57] R N Kalaria,et al. Cerebral vessels in ageing and Alzheimer's disease. , 1996, Pharmacology & therapeutics.
[58] M Haupt,et al. [Clinical diagnosis of Alzheimer's disease]. , 1988, Deutsche medizinische Wochenschrift.