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Your search keyword '"Brooks, Simon P."' showing total 8 results
Start Over Author "Brooks, Simon P." Publication Type Electronic Resources
8 results on '"Brooks, Simon P."'

1. Loss of CRMP2 O-GlcNAcylation leads to reduced novel object recognition performance in mice

Author

Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, van Aalten, Daan M F, Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, and van Aalten, Daan M F

Abstract

O-GlcNAcylation is an abundant post-translational modification in the nervous system, linked to both neurodevelopmental and neurodegenerative disease. However, the mechanistic links between these phenotypes and site-specific O-GlcNAcylation remain largely unexplored. Here, we show that Ser517 O-GlcNAcylation of the microtubule-binding protein Collapsin Response Mediator Protein-2 (CRMP2) increases with age. By generating and characterizing a Crmp2S517A knock-in mouse model, we demonstrate that loss of O-GlcNAcylation leads to a small decrease in body weight and mild memory impairment, suggesting that Ser517 O-GlcNAcylation has a small but detectable impact on mouse physiology and cognitive function.

Published
2019

2. Loss of CRMP2 O-GlcNAcylation leads to reduced novel object recognition performance in mice

Author

Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, van Aalten, Daan M F, Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, and van Aalten, Daan M F

Published
2019

3. Loss of CRMP2 O-GlcNAcylation leads to reduced novel object recognition performance in mice

Author

Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, van Aalten, Daan M F, Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, and van Aalten, Daan M F

Published
2019

4. Loss of CRMP2 O-GlcNAcylation leads to reduced novel object recognition performance in mice

Author

Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, van Aalten, Daan M F, Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Muha, Villo, Williamson, Ritchie, Hills, Rachel, McNeilly, Alison D, McWilliams, Thomas G, Alonso, Jana, Schimpl, Marianne, Leney, Aneika C, Heck, Albert J R, Sutherland, Calum, Read, Kevin D, McCrimmon, Rory J, Brooks, Simon P, and van Aalten, Daan M F

Published
2019

5. X-linked cataract and Nance-Horan syndrome are allelic disorders.

Author

Coccia, Margherita, Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, Hardcastle, Alison J, Coccia, Margherita, Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, and Hardcastle, Alison J

Abstract

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

Published
2009

6. X-linked cataract and Nance-Horan syndrome are allelic disorders.

Author

Coccia, Margherita, Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, Hardcastle, Alison J, Coccia, Margherita, Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, and Hardcastle, Alison J

Abstract

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

Published
2009

7. X-linked cataract and Nance-Horan syndrome are allelic disorders.

Author

Coccia, Margherita, Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, Hardcastle, Alison J, Coccia, Margherita, Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, and Hardcastle, Alison J

Abstract

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

Published
2009

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