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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01121-w
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- Article
The Nanoscopic Organization of Synapse Structures: A Common Basis for Cell Communication.
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- Membranes, 2021, v. 11, n. 4, p. 248, doi. 10.3390/membranes11040248
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- Article
Altered PLD3 exonuclease activity impacts on lysosomal and mitochondrial homeostasis.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 4, p. 1, doi. 10.1002/alz.063567
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- Article
Elucidating the molecular basis of altered Presenilin 2 expression on Alzheimer's disease pathology.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 3, p. 1, doi. 10.1002/alz.064556
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- Article
Contribution of Alzheimer's disease risk genes in the maintenance of endolysosomal transport regulation.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.053723
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- Article
Deficiency of the lysosomal exonuclease PLD3 impacts the degradative route.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.050868
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- Article
Contribution of Alzheimer's disease risk genes in the maintenance of endolysosomal transport regulation: Molecular and cell biology/endosomal‐lysosomal dysfunction.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042967
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- Article
SEC24 isoform specificity regulates the assembly of γ‐secretase from dimeric subcomplexes: Molecular and cell biology/presenilins.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042844
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- Article
BNIP3 promotes HIF‐1α‐driven melanoma growth by curbing intracellular iron homeostasis.
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- EMBO Journal, 2021, v. 40, n. 10, p. 1, doi. 10.15252/embj.2020106214
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- Article
Understanding and targeting diverse conformations of aggregated proteins that trigger neurodegeneration
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- 2012
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- Abstract
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
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- Article
Implication of APP secretases in notch signaling.
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- Journal of Molecular Neuroscience, 2001, v. 17, n. 2, p. 171, doi. 10.1385/JMN:17:2:171
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- Article
Presenilin 1 mediates the turnover of telencephalin in hippocampal neurons via an autophagic degradative pathway.
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- Journal of Cell Biology, 2004, v. 166, n. 7, p. 1041, doi. 10.1083/jcb.200406060
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- Article
NuSAP, a novel microtubule-associated protein involved in mitotic spindle organization.
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- Journal of Cell Biology, 2003, v. 162, n. 6, p. 1017, doi. 10.1083/jcb.200302129
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- Article
The discrepancy between presenilin subcellular localization and gamma-secretase processing of...
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- Journal of Cell Biology, 2001, v. 154, n. 4, p. 731, doi. 10.1083/jcb.200104045
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- Article
Where Notch and Wnt Signaling Meet: The Presenilin Hub.
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- Journal of Cell Biology, 2001, v. 152, n. 4, p. F17, doi. 10.1083/jcb.152.4.F17
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- Article
A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency.
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- Scientific Reports, 2017, p. 41408, doi. 10.1038/srep41408
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- Article
Phospholipase D3 degrades mitochondrial DNA to regulate nucleotide signaling and APP metabolism.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38501-w
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- Article
Impaired LDL Receptor-Related Protein 1 Translocation Correlates with Improved Dyslipidemia and Atherosclerosis in apoE-Deficient Mice.
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- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038330
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- Article
Presenilin Function in APP Processing.
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- Annals of the New York Academy of Sciences, 2000, v. 920, n. 1, p. 158, doi. 10.1111/j.1749-6632.2000.tb06917.x
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- Article
Bin1 and CD2AP polarize Aβ generation in neurons.
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- EMBO Reports, 2017, v. 18, n. 1, p. 5, doi. 10.15252/embr.201643634
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- Article
Using miRNA-mRNA Interaction Analysis to Link Biologically Relevant miRNAs to Stem Cell Identity Testing for Next-Generation Culturing Development.
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- Stem Cells Translational Medicine, 2016, v. 5, n. 6, p. 709, doi. 10.5966/sctm.2015-0154
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- Article
Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) is involved in lysosomal cholesterol export.
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- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-11425-0
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- Article
Subcellular localization of synaptophysin in noradrenergic nerve terminals: A biochemical and morphological study.
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- Synapse, 1995, v. 21, n. 1, p. 65, doi. 10.1002/syn.890210110
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- Article
ARF6-mediated endosomal transport of Telencephalin affects dendritic filopodia-to-spine maturation.
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- EMBO Journal, 2012, v. 31, n. 15, p. 3252, doi. 10.1038/emboj.2012.182
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- Article
A novel pathway combining calreticulin exposure and ATP secretion in immunogenic cancer cell death.
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- EMBO Journal, 2012, v. 31, n. 5, p. 1062, doi. 10.1038/emboj.2011.497
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- Article
No endogenous Aβ production in presenilin-deficient fibroblasts.
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- Nature Cell Biology, 2002, v. 4, n. 7, p. E164, doi. 10.1038/ncb0702-e164a
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- Article
Presenilins and the intramembrane proteolysis of proteins: facts and fiction.
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- Nature Cell Biology, 2001, v. 3, n. 10, p. E221, doi. 10.1038/ncb1001-e221
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- Article
Total inactivation of γ?secretase activity in presenilin-deficient embryonic stem cells.
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- Nature Cell Biology, 2000, v. 2, n. 7, p. 461, doi. 10.1038/35017105
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- Article
Peptides based on the presenilin-APP binding domain inhibit APP processing and Aβ production through interfering with the APP transmembrane domain.
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- FASEB Journal, 2012, v. 26, n. 9, p. 3765, doi. 10.1096/fj.11-201368
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- Article
A novel strategy for the comprehensive analysis of the biomolecular composition of isolated plasma membranes.
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- Molecular Systems Biology, 2011, v. 7, n. 1, p. 1, doi. 10.1038/msb.2011.74
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- Article
Maintenance of proteostasis by Drosophila Rer1 is essential for competitive cell survival and Myc-driven overgrowth.
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- PLoS Genetics, 2024, v. 20, n. 2, p. 1, doi. 10.1371/journal.pgen.1011171
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- Article
Front Cover: Organellar Omics – A Reviving Strategy to Untangle the Biomolecular Complexity of the Cell.
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- Proteomics, 2018, v. 18, n. 5/6, p. 1, doi. 10.1002/pmic.201870041
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- Article
Organellar Omics—A Reviving Strategy to Untangle the Biomolecular Complexity of the Cell.
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- Proteomics, 2018, v. 18, n. 5/6, p. 1, doi. 10.1002/pmic.201700113
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- Article
Membrane Trafficking Pathways in Alzheimer's Disease.
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- Traffic, 2012, v. 13, n. 6, p. 759, doi. 10.1111/j.1600-0854.2012.01332.x
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- Article
Human ClC-6 is a lipid raft associated glycoprotein that resides in late endosomes in neuronal cells but not upon overexpression in COS and HeLa cells.
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- FASEB Journal, 2007, v. 21, n. 5, p. A537
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- Article
Rer1p competes with APH-1 for binding to nicastrin and regulates γ-secretase complex assembly in the early secretory pathway.
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- Journal of Cell Biology, 2007, v. 176, n. 5, p. 629, doi. 10.1083/jcb.200609180
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- Article
Amyloid, Presenilins, and Alzheimer's Disease.
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- Neuroscientist, 2003, v. 9, n. 2, p. 117, doi. 10.1177/1073858403252227
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- Article
Inactivation of the proximal NPXY motif impairs early steps in LRP1 biosynthesis.
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- Cellular & Molecular Life Sciences, 2010, v. 67, n. 1, p. 135, doi. 10.1007/s00018-009-0171-7
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- Article
Inhomogeneity Based Characterization of Distribution Patterns on the Plasma Membrane.
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- PLoS Computational Biology, 2016, v. 12, n. 9, p. 1, doi. 10.1371/journal.pcbi.1005095
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- Article
Early etiology of Alzheimer's disease: tipping the balance toward autophagy or endosomal dysfunction?
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- Acta Neuropathologica, 2015, v. 129, n. 3, p. 363, doi. 10.1007/s00401-014-1379-7
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- Publication type:
- Article
Tetraspanin 6: a pivotal protein of the multiple vesicular body determining exosome release and lysosomal degradation of amyloid precursor protein fragments.
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- Molecular Neurodegeneration, 2017, v. 12, p. 1, doi. 10.1186/s13024-017-0165-0
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- Article
Sorting out the cell biology of Alzheimer's disease: focus on BACE1 and APP.
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- 2012
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- Publication type:
- Abstract
How Golgi glycosylation meets and needs trafficking: the case of the COG complex.
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- Glycobiology, 2011, v. 21, n. 7, p. 853, doi. 10.1093/glycob/cwq179
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- Article
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
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- Human Molecular Genetics, 2009, v. 18, n. 17, p. 3244, doi. 10.1093/hmg/ddp262
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- Article
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
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- Human Molecular Genetics, 2009, v. 18, n. 3, p. 517
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- Publication type:
- Article
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for α-secretase activity in fibroblasts.
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- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2615, doi. 10.1093/hmg/11.21.2615
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- Article
Pathogenic APP mutations near the γ-secretase cleavage site differentially affect Aβ secretion and APP C-terminal fragment stability.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1665, doi. 10.1093/hmg/10.16.1665
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- Article
Gene profiling of hippocampal neuronal culture.
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- Journal of Neurochemistry, 2003, v. 85, n. 5, p. 1279, doi. 10.1046/j.1471-4159.2003.01753.x
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- Publication type:
- Article
Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5417, doi. 10.3390/ijms25105417
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- Article