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Analysis of AlphaMissense data in different protein groups and structural context.
- Published in:
- Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03327-8
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- Publication type:
- Article
Readthrough-induced misincorporated amino acid ratios guide mutant-specific therapeutic approaches for two CFTR nonsense mutations.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1389586
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- Publication type:
- Article
Keratin 8 is a scaffolding and regulatory protein of ERAD complexes.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 9, p. 1, doi. 10.1007/s00018-022-04528-3
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- Publication type:
- Article
Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca<sup>2+</sup>-induced proteostasis disease stress.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 3, p. 1, doi. 10.1007/s00018-022-04191-8
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- Publication type:
- Article
Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97777-4
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- Publication type:
- Article
A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants.
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- Journal of Personalized Medicine, 2021, v. 11, n. 7, p. 643, doi. 10.3390/jpm11070643
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- Article
Thinking Outside the Bug: Targeting Outer Membrane Proteins for Burkholderia Vaccines.
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- Cells (2073-4409), 2021, v. 10, n. 3, p. 495, doi. 10.3390/cells10030495
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- Article
Bioactive Thymosin Alpha-1 Does Not Influence F508del-CFTR Maturation and Activity.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46639-1
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- Publication type:
- Article
Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42331-6
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- Publication type:
- Article
Identification of Allosteric Inhibitors against Active Caspase-6.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41930-7
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- Publication type:
- Article
PINK1 autophosphorylation is required for ubiquitin recognition.
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- EMBO Reports, 2018, v. 19, n. 4, p. 1, doi. 10.15252/embr.201744981
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- Publication type:
- Article
Mutation-specific downregulation of CFTR2 variants by gating potentiators.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4873, doi. 10.1093/hmg/ddx367
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- Publication type:
- Article
Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl<sup>−</sup> channel function and trafficking.
- Published in:
- Journal of Physiology, 2017, v. 595, n. 22, p. 6993, doi. 10.1113/JP275087
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- Publication type:
- Article
Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00444-4
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- Publication type:
- Article
New insights into interactions between the nucleotide-binding domain of CFTR and keratin 8.
- Published in:
- Protein Science: A Publication of the Protein Society, 2017, v. 26, n. 2, p. 343, doi. 10.1002/pro.3086
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- Publication type:
- Article
A Christianson syndrome-linked deletion mutation (Δ<sup>287</sup> ES<sup>288</sup>) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
- Published in:
- Molecular Neurodegeneration, 2016, v. 11, p. 1, doi. 10.1186/s13024-016-0129-9
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- Publication type:
- Article
Epithelial Anion Transport as Modulator of Chemokine Signaling.
- Published in:
- Mediators of Inflammation, 2016, p. 1, doi. 10.1155/2016/7596531
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- Publication type:
- Article
Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect.
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- PLoS Biology, 2016, v. 14, n. 5, p. 1, doi. 10.1371/journal.pbio.1002462
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- Publication type:
- Article
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.
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- Science Translational Medicine, 2014, v. 6, n. 246, p. 1, doi. 10.1126/scitranslmed.3008889
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- Publication type:
- Article
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4405, doi. 10.1093/hmg/ddt290
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- Publication type:
- Article
Discovery of novel potent ΔF508- CFTR correctors that target the nucleotide binding domain.
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- EMBO Molecular Medicine, 2013, v. 5, n. 10, p. 1484, doi. 10.1002/emmm.201302699
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- Publication type:
- Article
Mechanism-based corrector combination restores ΔF508-CFTR folding and function.
- Published in:
- Nature Chemical Biology, 2013, v. 9, n. 7, p. 444, doi. 10.1038/nchembio.1253
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- Publication type:
- Article
Disruption of cytokeratin-8 interaction with F508del-CFTR corrects its functional defect.
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- Human Molecular Genetics, 2012, v. 21, n. 3, p. 623, doi. 10.1093/hmg/ddr496
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- Publication type:
- Article
Quality control for unfolded proteins at the plasma membrane.
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- Journal of Cell Biology, 2010, v. 191, n. 3, p. 553, doi. 10.1083/jcb.201006012
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- Article
Introduction / Introduction.
- Published in:
- Biochemistry & Cell Biology, 2010, v. 88, n. 2, p. v, doi. 10.1139/O09-911
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- Publication type:
- Article
Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis.
- Published in:
- Nature Chemical Biology, 2010, v. 6, n. 1, p. 25, doi. 10.1038/nchembio.275
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- Publication type:
- Article
N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic.
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- Journal of Cell Biology, 2009, v. 184, n. 6, p. 847, doi. 10.1083/jcb.200808124
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- Publication type:
- Article
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3728, doi. 10.1093/hmg/ddn269
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- Publication type:
- Article
Site-specific ubiquitination exposes a linear motif to promote interferon-α receptor endocytosis.
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- Journal of Cell Biology, 2007, v. 179, n. 5, p. 935, doi. 10.1083/jcb.200706034
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- Publication type:
- Article
Importin 13 Regulates Nuclear Import of the Glucocorticoid Receptor in Airway Epithelial Cells.
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- American Journal of Respiratory Cell & Molecular Biology, 2006, v. 35, n. 6, p. 668, doi. 10.1165/rcmb.2006-0073oc
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- Publication type:
- Article
Molecular Basis of Oligoubiquitin-Dependent Internalization of Membrane Proteins in Mammalian Cells.
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- Traffic, 2006, v. 7, n. 3, p. 282, doi. 10.1111/j.1600-0854.2006.00384.x
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- Publication type:
- Article
Dominant and Recessive Distal Renal Tubular Acidosis Mutations of Kidney Anion Exchanger 1 Induce Distinct Trafficking Defects in MDCK Cells.
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- Traffic, 2006, v. 7, n. 2, p. 117, doi. 10.1111/j.1600-0854.2005.00366.x
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- Publication type:
- Article
Small-molecule correctors of defective F508-CFTR cellular processing identified by high-throughput screening.
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- Journal of Clinical Investigation, 2005, v. 115, n. 9, p. 2564, doi. 10.1172/JCI24898
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- Publication type:
- Article
Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.
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- 2005
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- Publication type:
- journal article
The?F508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 17, doi. 10.1038/nsmb882
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- Publication type:
- Article
Contrasting nuclear dynamics of the caspase-activated DNase (CAD) in dividing and apoptotic cells.
- Published in:
- Journal of Cell Biology, 2004, v. 167, n. 5, p. 851, doi. 10.1083/jcb.200404105
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- Publication type:
- Article
Misfolding diverts CFTR from recycling to degradation: quality control at early endosomes.
- Published in:
- Journal of Cell Biology, 2004, v. 164, n. 6, p. 923, doi. 10.1083/jcb.200312018
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- Publication type:
- Article
Analysis of Differential Lipofection Efficiency in Primary and Established Myoblasts
- Published in:
- Molecular Therapy, 2002, v. 5, n. 2, p. 161, doi. 10.1006/mthe.2002.0528
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- Publication type:
- Article
COOH-terminal Truncations Promote Proteasome-dependent Degradation of Mature Cystic Fibrosis...
- Published in:
- Journal of Cell Biology, 2001, v. 153, n. 5, p. 957, doi. 10.1083/jcb.153.5.957
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- Publication type:
- Article