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BMC Medical Genomics, 09/2018, Volume 11
Journal Article
BIOCHEMISTRY, ISSN 0006-2960, 12/2017, Volume 56, Issue 48, pp. 6321 - 6324
Amyloid beta-protein (A beta) assembly is a seminal process in Alzheimer's disease. Elucidating the mechanistic features of this process is thought to be vital... 
DISEASE MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CROSS-LINKING | AMYLOID-BETA-PROTEIN | NUCLEATION
Journal Article
BIOPHYSICAL JOURNAL, ISSN 0006-3495, 02/2015, Volume 108, Issue 3, pp. 738 - 747
The aggregation of amyloid-beta (A beta) peptides plays a crucial role in the etiology of Alzheimer's disease (AD). Recently, it has been reported that an A2T... 
FIBRIL FORMATION | INTRINSIC DISORDER | EXPERIMENTAL CONSTRAINTS | BIOPHYSICS | DISEASE MUTATIONS | DIMER FORMATION | A-BETA | COMBINED MD/NMR | AMYLOID-BETA-PROTEIN | PRECURSOR PROTEIN | MOLECULAR-DYNAMICS SIMULATIONS
Journal Article
RSC ADVANCES, ISSN 2046-2069, 07/2019, Volume 9, Issue 36, pp. 20901 - 20916
Severe early-onset familial Alzheimer's disease (FAD) is caused by more than 200 different mutations in the genes coding for presenilin, the catalytic subunit... 
MOLECULAR-DYNAMICS | MECHANISM | STABILITY | PORE | A-BETA | BINDING-SITE | CLEAVAGE | CHEMISTRY, MULTIDISCIPLINARY | MODULATION | ALZHEIMERS-DISEASE MUTATIONS | LIPID-BILAYER
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 12/2013, Volume 110, Issue 51, pp. E5016 - E5024
Voltage-gated sodium (Na-v) channels are embedded in a multicomponent membrane signaling complex that plays a crucial role in cellular excitability. Although... 
ALPHA-SUBUNIT | MULTIDISCIPLINARY SCIENCES | beta4 subunit | NEURITIC DEGENERATION | EXTRACELLULAR DOMAIN | MOLECULAR DETERMINANTS | FEBRILE SEIZURES | voltage-gated sodium channel | SCORPION TOXIN | disease mutations | FUNCTIONAL EXPRESSION | ProTx-II | RAT-BRAIN | GENERALIZED EPILEPSY | X-ray structure | GATED NA+ CHANNELS
Journal Article
Biochemistry and Cell Biology, ISSN 0829-8211, 2019, Volume 97, Issue 1, pp. 46 - 57
Mutations in protein-coding regions underlie almost all Mendelian disorders, drive tumorigenesis, and contribute to susceptibility to common diseases. Despite... 
rare diseases | protein–protein interactions | disease mutations | mutations liées aux maladies | pathogenic variants | variants pathogènes | interactions protéine–protéine | maladies rares
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 01/2014, Volume 5
The high A beta 42/A beta 40 production ratio is a hallmark of familial Alzheimer's disease, which can be caused by mutations in the amyloid precursor protein... 
DISEASE MUTATIONS | DIMER | MULTIDISCIPLINARY SCIENCES | PURIFICATION | A-BETA | GAMMA-SECRETASE CLEAVAGE | TRANSMEMBRANE DOMAIN | BETA-PROTEIN | GXXXG MOTIFS | AMYLOID PRECURSOR PROTEIN | C-TERMINAL DOMAIN
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2018, Volume 50, Issue 7, pp. 1048 - 1053
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 1 - 11
Compensated pathogenic deviations (CPDs) are sequence variants that are pathogenic in humans but neutral in other species. In recent years, our molecular... 
HUMAN-DISEASE MUTATIONS | GENE | MULTIDISCIPLINARY SCIENCES | SEQUENCE | GUIDELINES | TERMS | PROTEINS | STRUCTURE STABILITY | VIEW | LIST | PREDICTION | Genetic variance | Phenotypes | Hemostasis | Hemophilia | Genomes | Mutation | Gene mapping
Journal Article
Cell, ISSN 0092-8674, 07/2017, Volume 170, Issue 3, pp. 443 - 456.e14
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 15011 - 13
ATP is an essential constitutive regulator of cardiac ryanodine receptors (RyR2), enabling small changes in cytosolic Ca2+ to trigger large changes in channel... 
CALCIUM-RELEASE CHANNELS | ACTIVATION | DISEASE MUTATIONS | CA2+ RELEASE | MULTIDISCIPLINARY SCIENCES | MUSCLE | INORGANIC-PHOSPHATE | CARDIAC RYANODINE RECEPTOR | SARCOPLASMIC-RETICULUM | HYPOXIA | ADENINE-NUCLEOTIDE | Adenosine | Calcium | AMP | Channel gating | Ryanodine receptors | Ligands | Binding sites
Journal Article
Dalton Transactions, ISSN 1477-9226, 01/2015, Volume 44, Issue 6, pp. 2747 - 2754
beta-Amyloid (A beta) plays a central role in Alzheimer's disease (AD), but the specific molecular mechanism and associated structures remain unknown. We... 
MECHANISM | GENE | DISEASE MUTATIONS | A-BETA(1-40) | A-BETA | PEPTIDE AGGREGATION | ENGLISH H6R | ASSOCIATION | OLIGOMERS | TOTTORI D7N | CHEMISTRY, INORGANIC & NUCLEAR
Journal Article
Journal of Chemical Theory and Computation, ISSN 1549-9618, 11/2018, Volume 14, Issue 11, pp. 6063 - 6075
Journal Article
BIOCHEMICAL JOURNAL, ISSN 0264-6021, 12/2013, Volume 456, pp. 347 - 360
Journal Article