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1. Full Text Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice
by Marques, Ané R. A and Aten, Jan and Ottenhoff, Roelof and van Roomen, Cindy P. A. A and Herrera Moro, Daniela and Claessen, Nike and Vinueza Veloz, María Fernanda and Zhou, Kuikui and Lin, Zhanmin and Mirzaian, Mina and Boot, Rolf G and de Zeeuw, Chris I and Overkleeft, Herman S and Yildiz, Yildiz and Aerts, Johannes M. F. G
PLoS ONE, ISSN 1932-6203, 2015, Volume 10, Issue 8, p. e0135889
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations... 
DISEASE TYPE-C | GLUCOCEREBROSIDASE | BETA-GLUCOSIDASE-2 | MULTIDISCIPLINARY SCIENCES | STORAGE DISORDER | NONLYSOSOMAL GLUCOSYLCERAMIDASE | INHIBITORS | N-BUTYLDEOXYNOJIRIMYCIN | IN-SITU | DEFICIENCY | GAUCHER-DISEASE | Glucosylceramides - genetics | Niemann-Pick Disease, Type C - enzymology | Niemann-Pick Disease, Type C - pathology | Mice, Knockout | Purkinje Cells - enzymology | Proteins - genetics | Animals | Proteins - metabolism | beta-Glucosidase - genetics | beta-Glucosidase - metabolism | Mice | Niemann-Pick Disease, Type C - genetics | Glucosylceramides - metabolism | Purkinje Cells - pathology | Physiological aspects | Enzymes | Niemann-Pick disease | Brain | Neurosciences | Basal ganglia | Neuropathology | Lysosomes | Biochemistry | Biosynthesis | Risk factors | Mouse devices | Purkinje cells | Npc1 protein | Movement disorders | Gaucher's disease | Therapeutic applications | Motor ability | Abnormalities | Central nervous system diseases | Metabolism | Cholesterol | Substrates | Pathology | Life span | Glucosylceramidase | Mutation | Endoplasmic reticulum
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2. Full Text Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease
by Marques, Ané R. A and Gabriel, Tanit L and Aten, Jan and van Roomen, Cindy P. A. A and Ottenhoff, Roelof and Claessen, Nike and Alfonso, Pilar and Irún, Pilar and Giraldo, Pilar and Aerts, Johannes M. F. G and van Eijk, Marco
PLoS ONE, ISSN 1932-6203, 2016, Volume 11, Issue 1, p. e0147208
Impaired function of NPC1 or NPC2 lysosomal proteins leads to the intracellular accumulation of unesterified cholesterol, the primary defect underlying... 
Biomarkers - metabolism | Cell Line | Membrane Glycoproteins - metabolism | Humans | Middle Aged | Male | Cholesterol - metabolism | Niemann-Pick Disease, Type C - metabolism | Membrane Glycoproteins - genetics | Young Adult | Animals | Eye Proteins - metabolism | Aged, 80 and over | Glycosphingolipids - metabolism | Adult | Female | Aged | Mice | Eye Proteins - genetics | Niemann-Pick Disease, Type C - genetics | Foam Cells - metabolism | Disease Models, Animal | LIPID STORAGE DISORDER | CHOLESTEROL | METABOLISM | MACROPHAGES | MULTIDISCIPLINARY SCIENCES | MOUSE | LIVER | TRAFFICKING | INHIBITORS | EXPRESSION | GAUCHER-DISEASE | Metabolism, Inborn errors of | Care and treatment | Glycosaminoglycans | Patient outcomes | Development and progression | Research | Risk factors | Niemann-Pick disease | Transcription | Laboratories | Liver | Lysosomes | Lipids | Biochemistry | Macrophages | Accumulation | Ceramide glucosyltransferase | Proteins | Viscera | Rodents | Animal tissues | Npc1 protein | Bioindicators | Secretion | Melanoma | Glycoproteins | Metabolism | Cholesterol | Pathology | Glycosphingolipids | Biomarkers
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3. Full Text Imaging biomarker roadmap for cancer studies
by O'Connor, James P. B and Aboagye, Eric O and Adams, Judith E and Aerts, Hugo J. W. L and Barrington, Sally F and Beer, Ambros J and Boellaard, Ronald and Bohndiek, Sarah E and Brady, Michael and Brown, Gina and Buckley, David L and Chenevert, Thomas L and Clarke, Laurence P and Collette, Sana and Cook, Gary J and deSouza, Nandita M and Dickson, John C and Dive, Caroline and Evelhoch, Jeffrey L and Faivre-Finn, Corinne and Gallagher, Ferdia A and Gilbert, Fiona J and Gillies, Robert J and Goh, Vicky and Griffiths, John R and Groves, Ashley M and Halligan, Steve and Harris, Aian L and Hawkes, David J and Hoekstra, Otto S and Huang, Erich P and Hutton, Brian F and Jackson, Edward F and Jayson, Gordon C and Jones, Anew and Koh, Dow-Mu and Lacombe, Denis and Lambin, Philippe and Lassau, Nathalie and Leach, Martin O and Lee, Ting-Yim and Leen, Edward L and Lewis, Jason S and Liu, Yan and Lythgoe, Mark F and Manoharan, Prakash and Maxwell, Ross J and Miles, Kenneth A and Morgan, Bruno and Morris, Steve and Ng, Tony and Padhani, Anwar R and Parker, Geoff J. M and Partridge, Mike and Pathak, Arvind P and Peet, Anew C and Punwani, Shonit and Reynolds, Anew R and Robinson, Simon P and Shankar, Lalitha K and Sharma, Ricky A and Soloviev, Dmitry and Stroobants, Sigrid and Sullivan, Daniel C and Taylor, Stuart A and Tofts, Paul S and Tozer, Gillian M and van Herk, Marcel and Walker-Samuel, Simon and Wason, James and Williams, Kaye J and Workman, Paul and Yankeelov, Thomas E and Brindle, Kevin M and McShane, Lisa M and Jackson, Alan and Waterton, John C
Nature reviews. Clinical oncology, ISSN 1759-4774, 2017, Volume 14, Issue 3, pp. 169 - 186
Imaging biomarkers (IBs) are integral to the routine management of patients with cancer. IBs used daily in oncology include clinical TNM stage, objective... 
BREAST-CANCER | CONTRAST-ENHANCED MRI | SURROGATE END-POINTS | COST-EFFECTIVENESS | POSITRON-EMISSION-TOMOGRAPHY | ONCOLOGY | GROUP DEVELOPMENTAL PATHWAY | CLINICAL-TRIALS | HIGH FAMILIAL RISK | PROGNOSTIC-SIGNIFICANCE | PHASE-I | Organotechnetium Compounds | Reproducibility of Results | Folic Acid - analogs & derivatives | Neoplasms - economics | Prognosis | Humans | Neoplasms - diagnosis | Positron-Emission Tomography - methods | Biomarkers, Tumor | Clinical Decision-Making | Cost-Benefit Analysis | Selection Bias | Fluorodeoxyglucose F18 | Research Design - standards | Radiopharmaceuticals | Research | Biological markers | Oncology, Experimental | Cancer
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4. Full Text Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution
by Abbosh, Christopher and Birkbak, Nicolai J and Wilson, Gareth A and Jamal-Hanjani, Mariam and Constantin, Tudor and Salari, Raheleh and Le Quesne, John and Moore, David A and Veeriah, Selvaraju and Rosenthal, Rachel and Marafioti, Teresa and Kirkizlar, Eser and Watkins, Thomas B. K and McGranahan, Nicholas and Ward, Sophia and Martinson, Luke and Riley, Joan and Fraioli, Francesco and Al Bakir, Maise and Grönroos, Eva and Zambrana, Francisco and Endozo, Raymondo and Bi, Wenya Linda and Fennessy, Fiona M and Sponer, Nicole and Johnson, Diana and Laycock, Joanne and Shafi, Seema and Czyzewska-Khan, Justyna and Rowan, Andrew and Chambers, Tim and Matthews, Nik and Turajlic, Samra and Hiley, Crispin and Lee, Siow Ming and Forster, Martin D and Ahmad, Tanya and Falzon, Mary and Borg, Elaine and Lawrence, David and Hayward, Martin and Kolvekar, Shyam and Panagiotopoulos, Nikolaos and Janes, Sam M and Thakrar, Ricky and Ahmed, Asia and Blackhall, Fiona and Summers, Yvonne and Hafez, Dina and Naik, Ashwini and Ganguly, Apratim and Kareht, Stephanie and Shah, Rajesh and Joseph, Leena and Quinn, Anne Marie and Crosbie, Phil A and Naidu, Babu and Middleton, Gary and Langman, Gerald and Trotter, Simon and Nicolson, Marianne and Remmen, Hardy and Kerr, Keith and Chetty, Mahendran and Gomersall, Lesley and Fennell, Dean A and Nakas, Apostolos and Rathinam, Sridhar and Anand, Girija and Khan, Sajid and Russell, Peter and Ezhil, Veni and Ismail, Babikir and Irvin-Sellers, Melanie and Prakash, Vineet and Lester, Jason F and Kornaszewska, Malgorzata and Attanoos, Richard and Adams, Haydn and Davies, Helen and Oukrif, Dahmane and Akarca, Ayse U and Hartley, John A and Lowe, Helen L and Lock, Sara and Iles, Natasha and Bell, Harriet and Ngai, Yenting and Elgar, Greg and Szallasi, Zoltan and Schwarz, Roland F and Herrero, Javier and Stewart, Aengus and Quezada, Sergio A and Peggs, Karl S and Van Loo, Peter and Dive, Caroline and Lin, C. Jimmy and Rabinowitz, Matthew and Aerts, Hugo J. W. L and ... and TRACERx Consortium and The PEACE Consortium and TRACERx consortium and PEACE consortium and The PEACE consortium and The TRACERx consortium
Nature, ISSN 0028-0836, 04/2017, Volume 545, Issue 7655, pp. 446 - 451
The early detection of relapse following primary surgery for non-small-cell lung cancer and the characterization of emerging subclones, which seed metastatic... 
IMPACT | MUTATIONS | CIRCULATING TUMOR DNA | UPTAKE RATIO | MULTIDISCIPLINARY SCIENCES | Biopsy - methods | Early Detection of Cancer - methods | Humans | Lung Neoplasms - pathology | Cell Tracking | Neoplasm Recurrence, Local - pathology | DNA, Neoplasm - blood | DNA Mutational Analysis | Cell Lineage - genetics | Carcinoma, Non-Small-Cell Lung - pathology | Lung Neoplasms - genetics | Limit of Detection | Reproducibility of Results | Carcinoma, Non-Small-Cell Lung - surgery | Carcinoma, Non-Small-Cell Lung - genetics | Neoplasm Recurrence, Local - diagnosis | Tumor Burden | Multiplex Polymerase Chain Reaction | Postoperative Care - methods | Clone Cells - metabolism | Disease Progression | Neoplasm Metastasis - genetics | Drug Resistance, Neoplasm - genetics | Clone Cells - pathology | Neoplasm Metastasis - pathology | Neoplasm Metastasis - diagnosis | Carcinoma, Non-Small-Cell Lung - blood | Lung Neoplasms - surgery | Neoplasm Recurrence, Local - genetics | Lung Neoplasms - blood | DNA, Neoplasm - genetics | Evolution, Molecular | Lung cancer | Development and progression | Genetic aspects | Phylogeny | Nucleotide sequencing | Metastasis | Observations | Methods | DNA sequencing
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5. Full Text Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice
by Nietupski, Jennifer B and Pacheco, Joshua J and Chuang, Wei-Lien and Maratea, Kimberly and Li, Lingyun and Foley, Joseph and Ashe, Karen M and Cooper, Christopher G.F and Aerts, Johannes M.F.G and Copeland, Diane P and Scheule, Ronald K and Cheng, Seng H and Marshall, John
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2012, Volume 105, Issue 4, pp. 621 - 628
Niemann Pick type C (NPC) disease is a progressive neurodegenerative disease caused by mutations in or the gene products of which are involved in cholesterol... 
Glucosylceramide | GBA2 gene | Niemann–Pick type C disease | Lysosomal storage disease | Glucosylceramide synthase | Substrate reduction therapy | Niemann-Pick type C disease | MEDICINE, RESEARCH & EXPERIMENTAL | LIFE-SPAN | CHOLESTEROL | NEURODEGENERATION | GANGLIOSIDES | N-BUTYLDEOXYNOJIRIMYCIN | CYCLODEXTRIN OVERCOMES | BETA-GLUCOSIDASE-2 | GLYCOSPHINGOLIPIDS | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ACCUMULATION | Glucosyltransferases - antagonists & inhibitors | Niemann-Pick Disease, Type C - drug therapy | Brain - cytology | Niemann-Pick Disease, Type C - enzymology | Liver - metabolism | Imino Sugars - therapeutic use | Survival Rate | Enzyme Inhibitors - therapeutic use | Mice, Knockout | Brain - drug effects | Brain - metabolism | Drug Synergism | Animals | Liver - drug effects | Glycosphingolipids - metabolism | Niemann-Pick Disease, Type C - mortality | Liver - cytology | Mice | Mice, Inbred BALB C | Glucosylceramides - metabolism | Disease Models, Animal | Lipids | Analysis | Niemann-Pick disease | Spleen | Brain | Neurodegenerative diseases | Liver | Central nervous system | endosomes | Inflammation | Longevity | Survival | Cholesterol | Ceramide glucosyltransferase | Glycosphingolipids | Glycolipids | sphingomyelin | Glucosylceramidase | Npc1 protein | Mutation | Gangliosides
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6. Full Text Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease
by Wheeler, Simon and Haberkant, Per and Bhardwaj, Meenakshi and Tongue, Paige and Ferraz, Maria J and Halter, David and Sprong, Hein and Schmid, Ralf and Aerts, Johannes M.F.G and Sullo, Nikol and Sillence, Dan J
Neurobiology of Disease, ISSN 0969-9961, 07/2019, Volume 127, pp. 242 - 252
Niemann-Pick type C disease (NPCD) is a neurodegenerative disease associated with increases in cellular cholesterol and glycolipids and most commonly caused by... 
Sphingolipid | Neurodegenerative disease | Endocytosis | Glycolipids | Lysosomal acidification | GBA2 | V-ATPASE | PROTEIN | CHOLESTEROL | MEMBRANE | GLYCOSPHINGOLIPID SYNTHESIS | MODEL | BETA-GLUCOSIDASE 2 | NEUROSCIENCES | LYSOSOMAL PH | LIPID TRAFFICKING | CATHEPSIN-D | Membrane lipids | Nervous system diseases | Plant lipids | Analysis | Cells
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7. Full Text Chemical proteomic analysis of serine hydrolase activity in Niemann-Pick Type C mouse brain
by van Rooden, Eva J and van Esbroeck, Annelot C. M and Baggelaar, Marc P and Deng, Hui and Florea, Bogdan I and Marques, Ané R. A and Ottenhoff, Roelof and Boot, Rolf G and Overkleeft, Herman S and Aerts, Johannes M. F. G and van der Stelt, Mario
Frontiers in neuroscience, ISSN 1662-4548, 2018, Volume 12, Issue JUL, p. 440
The endocannabinoid system (ECS) is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick type C (NPC) is a... 
Hydrolases | Endocannabinoid system | Activity-based protein profiling | Niemann-Pick type C | Chemical proteomics | CATHEPSIN-A | activity-based protein profiling | PROTEIN | ABNORMALITIES | hydrolases | MODEL | NEUROSCIENCES | METABOLISM | DISEASE | chemical proteomics | endocannabinoid system | MICE | INHIBITORS | CANNABINOIDS | Enzymes | Brain | Rats as laboratory animals | Serine | Proteomics | Physiological aspects | Research | Health aspects | Niemann-Pick disease | Traumatic brain injury | Disease | Diacylglycerol | Biochemistry | Biosynthesis | Lipoprotein lipase | Lipase | Proteins | Neurodegeneration | Serine carboxypeptidase | Carboxypeptidase A | Npc1 protein | Fatty-acid amide hydrolase | Thioesterase | Neurodegenerative diseases | Hydrolase | Therapeutic applications | Serine hydrolase | Carboxypeptidase C | Fatty acids | Chemistry | Mutation | C1 protein
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8. Full Text The Development of an Aza-C-Glycoside Library Based on a Tandem Staudinger/Aza-Wittig/Ugi Three-Component Reaction
by Wennekes, Tom and Bonger, Kimberley M and Vogel, Katrin and van den Berg, Richard J. B. H. N and Strijland, Anneke and Donker-Koopman, Wilma E and Aerts, Johannes M. F. G and van der Marel, Gijsbert A and Overkleeft, Herman S
EUROPEAN JOURNAL OF ORGANIC CHEMISTRY, ISSN 1099-0690, 2012, Volume 2012, Issue 32, pp. 6420 - 6454
We report the tandem Staudinger/aza-Wittig/Ugi three-component reaction mediated synthesis of a 64-member compound library of aza-C-glycosides. The library is... 
Carbohydrates | Medicinal chemistry | Multicomponent reactions | Enzyme inhibitors | Glycosides | Drug discovery | Azasugars | PHARMACOLOGICAL CHAPERONES | COMBINATORIAL LIBRARIES | UGI 4-COMPONENT CONDENSATION | STORAGE DISORDERS | CHEMISTRY, ORGANIC | N-BUTYLDEOXYNOJIRIMYCIN | GAUCHER-DISEASE | FUNCTIONALIZED PYRROLIDINES | BICYCLIC SCAFFOLDS | NONLYSOSOMAL GLUCOSYLCERAMIDASE | nonlysosomal glucosylceramidase | multicomponent reactions | n-butyldeoxynojirimycin | ugi 4-component condensation | combinatorial libraries | bicyclic scaffolds | storage disorders | gaucher-disease | pharmacological chaperones | functionalized pyrrolidines
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9. Full Text A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1
by Eloy, Philippine and Dehainault, Catherine and Sefta, Meriem and Aerts, Isabelle and Doz, François and Cassoux, Nathalie and Lumbroso le Rouic, Livia and Stoppa-Lyonnet, Dominique and Radvanyi, François and Millot, Gaël A and Gauthier-Villars, Marion and Houdayer, Claude
PLoS Genetics, ISSN 1553-7390, 02/2016, Volume 12, Issue 2, p. e1005888
Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second... 
GENE-MUTATIONS | INSTABILITY | INCOMPLETE PENETRANCE | EXPRESSION | GENETICS & HEREDITY | Retinoblastoma - genetics | Mediator Complex - metabolism | Humans | Retinoblastoma Protein - metabolism | Retinal Neoplasms - pathology | Male | Mediator Complex - genetics | Penetrance | Retinoblastoma - pathology | DNA Methylation | Phenotype | Pedigree | Retinoblastoma Protein - genetics | CpG Islands | Female | Heterozygote | Mutation | Retinal Neoplasms - genetics | Genetic aspects | Gene mutations | Retinoblastoma | Health aspects | Life Sciences | Human health and pathology | DNA methylation | Genes | Tumors
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