المؤلفون: Holm, Katharine Nichole, Herren, Anthony W, Taylor, Sandra L, Randol, Jamie L, Kim, Kyoungmi, Espinal, Glenda, Martínez-Cerdeño, Verónica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

مصطلحات موضوعية: CD38, DIA-MS, FMR1, FMRpolyG, FXTAS, SUMO1/2, fragile X syndrome, tenascin-c, SUMO1, 2

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0c746249

المؤلفون: Holm, Katharine Nichole, Herren, Anthony W, Taylor, Sandra L, Randol, Jamie L, Kim, Kyoungmi, Espinal, Glenda, Martínez-Cerdeño, Verónica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Fragile X Syndrome, Biotechnology, Neurosciences, Neurodegenerative, Genetics, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, 2.1 Biological and endogenous factors, Neurological, FXTAS, DIA-MS, SUMO1, 2, Tenascin-C, CD38, FMRpolyG, FMR1, SUMO1/2, Biochemistry and cell biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0g0288bv
https://escholarship.org/content/qt0g0288bv/qt0g0288bv.pdf

المؤلفون: Holm, Katharine Nichole, Herren, Anthony W, Taylor, Sandra L, Randol, Jamie L, Kim, Kyoungmi, Espinal, Glenda, Martiínez-Cerdeño, Verónica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

مصطلحات موضوعية: CD38, DIA-MS, FMR1, FMRpolyG, FXTAS, Fragile X Syndrome, SUMO1/2, Tenascin-C, SUMO1, 2

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0g0288bv

المؤلفون: Ma, Lisa, Herren, Anthony W, Espinal, Glenda, Randol, Jamie, McLaughlin, Bridget, Martinez-Cerdeño, Veronica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

المصدر: Acta Neuropathologica Communications. 7(1)

مصطلحات موضوعية: Fragile X Syndrome, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Neurosciences, Rare Diseases, Neurodegenerative, 2.1 Biological and endogenous factors, Neurological, Amino Acid Sequence, Ataxia, Female, Flow Cytometry, Frontal Lobe, Humans, Intranuclear Inclusion Bodies, Male, Proteomics, Tremor, Fragile X, neurodegeneration, proteomics, CGG repeat, proteasome, inclusion, FXTAS, FMRpolyG, SUMO, ubiquitin, Biochemistry and Cell Biology, Clinical Sciences, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1z08r4dd
https://escholarship.org/content/qt1z08r4dd/qt1z08r4dd.pdf

المؤلفون: Wenzel, H Jürgen, Murray, Karl D, Haify, Saif N, Hunsaker, Michael R, Schwartzer, Jared J, Kim, Kyoungmi, La Spada, Albert R, Sopher, Bryce L, Hagerman, Paul J, Raske, Christopher, Severijnen, Lies-Anne WFM, Willemsen, Rob, Hukema, Renate K, Berman, Robert F

المصدر: Acta neuropathologica communications. 7(1)

مصطلحات موضوعية: Astrocytes, Animals, Mice, Inbred C57BL, Mice, Transgenic, Mice, Ataxia, Tremor, Fragile X Syndrome, Motor Skills Disorders, Cell Communication, Gene Expression, Trinucleotide Repeat Expansion, Base Sequence, Male, Fragile X Mental Retardation Protein, Electron microscopy of inclusions, FMRpolyG, FXTAS, Fragile X premutation, Glia, Mouse model, Neurodegeneration, Non-cell-autonomous, RAN translation, Inbred C57BL, Transgenic, Biochemistry and Cell Biology, Clinical Sciences, Neurosciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4nn9n5bb

المؤلفون: Buijsen, RAM, Visser, JA, Kramer, P, Severijnen, EAWFM, Gearing, M, Charlet-Berguerand, N, Sherman, SL, Berman, RF, Willemsen, R, Hukema, RK

المصدر: Human Reproduction. 31(1)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Rare Diseases, Fragile X Syndrome, Genetics, Neurosciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Animals, Ataxia, Disease Models, Animal, Female, Fragile X Mental Retardation Protein, Humans, Intranuclear Inclusion Bodies, Male, Mice, Mice, Inbred C57BL, Middle Aged, Mutation, Peptides, Primary Ovarian Insufficiency, Tremor, Trinucleotide Repeat Expansion, FXPOI, FMR1 premutation, FMRpolyG, RAN translation, inclusions, FXTAS, trinucleotide repeat expansion, CGG-repeat, ovarian failure, HPG-axis, Medical and Health Sciences, Studies in Human Society, Obstetrics & Reproductive Medicine, Reproductive medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9qw701fd

المؤلفون: Roseanne Rosario, Hazel L Stewart, Nila Roy Choudhury, Gracjan Michlewski, Nicholas Charlet-Berguerand, Richard A Anderson

المصدر: FASEB J, 36(11):e22612, (2022-10-04)

مصطلحات موضوعية: FXPOI, CGG trinucleotide repeats, FMRpolyG, mRNA gain-of-function

Relation: https://doi.org/10.5281/zenodo.7143159; https://doi.org/10.5281/zenodo.7143160; oai:zenodo.org:7143160; https://doi.org/10.1096/fj.202200468RR

الاتاحة: https://doi.org/10.5281/zenodo.7143160
https://doi.org/10.1096/fj.202200468RR

المؤلفون: Xuan Phuoc Nguyen, Adriana Vilkaite, Birgitta Messmer, Jens E. Dietrich, Katrin Hinderhofer, Knut Schäkel, Thomas Strowitzki, Julia Rehnitz

المصدر: Genes; Volume 13; Issue 3; Pages: 451

مصطلحات موضوعية: FMR1 premutation, FMRpolyG, premature ovarian insufficiency

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13030451

الاتاحة: https://doi.org/10.3390/genes13030451

المؤلفون: M. Friedman-Gohas, S. E. Elizur, O. Dratviman-Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen

المصدر: Journal of Ovarian Research, Vol 13, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: FMRpolyG, FMR1 premutation carriers, RAN translation, FXPOI, COV434, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13048-020-00623-w; https://doaj.org/toc/1757-2215

URL الوصول: https://doaj.org/article/ab8d39667e934a2482efea3bb48fff80

المؤلفون: Buijsen, Ronald AM, Sellier, Chantal, Severijnen, Lies-Anne WFM, Oulad-Abdelghani, Mustapha, Verhagen, Rob FM, Berman, Robert F, Charlet-Berguerand, Nicolas, Willemsen, Rob, Hukema, Renate K

المصدر: Acta Neuropathologica Communications. 2(1)

مصطلحات موضوعية: Adrenal Glands, Ataxia, Brain, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome, Heterozygote, Humans, Intranuclear Inclusion Bodies, Kidney, Male, Myocardium, Thyroid Gland, Tremor, Ubiquitin, FXTAS, CGG repeat, FMRpolyG, RAN translation, Gain-of-function, Inclusions, Biochemistry and Cell Biology, Clinical Sciences, Neurosciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/35s7q9jp
https://escholarship.org/content/qt35s7q9jp/qt35s7q9jp.pdf

المؤلفون: Katharine Nichole Holm, Anthony W. Herren, Sandra L. Taylor, Jamie L. Randol, Kyoungmi Kim, Glenda Espinal, Verónica Martínez-Cerdeño, Isaac N. Pessah, Randi J. Hagerman, Paul J. Hagerman

المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)

مصطلحات موضوعية: FXTAS, FMR1, DIA-MS, FMRpolyG, fragile X syndrome, CD38, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2021.695407/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/4c677ac9e0ab44618a1bf3f14f97af69

المؤلفون: Lisa Ma (72555), Anthony W. Herren (4452679), Glenda Espinal (7342427), Jamie Randol (7342430), Bridget McLaughlin (7342433), Veronica Martinez-Cerdeño (7547252), Isaac N. Pessah (18331), Randi J. Hagerman (8207595), Paul J. Hagerman (207284)

مصطلحات موضوعية: Genetics, Fragile X, neurodegeneration, proteomics, CGG repeat, proteasome, inclusion, FXTAS, FMRpolyG, SUMO, ubiquitin

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Composition_of_the_Intranuclear_Inclusions_of_Fragile_X-associated_Tremor_Ataxia_Syndrome/9766562

الاتاحة: https://doi.org/10.6084/m9.figshare.9766562.v2

المؤلفون: Roseanne Rosario, Hazel L. Stewart, Nila Roy Choudhury, Gracjan Michlewski, Nicholas Charlet‐Berguerand, Richard A. Anderson

المصدر: Rosario, R, Stewart, H L, Roy Choudhury, N, Michlewski, G, Charlet-Berguerand, N & Anderson, R A 2022, ' Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency ', The FASEB Journal, vol. 36, no. 11, e22612 . https://doi.org/10.1096/fj.202200468RR

مصطلحات موضوعية: Menopause, Premature, RNA-Binding Proteins, CGG trinucleotide repeats, Primary Ovarian Insufficiency, Biochemistry, Mice, Fragile X Mental Retardation Protein, Fragile X Syndrome, Gain of Function Mutation, FMRpolyG, Genetics, Animals, Humans, Female, RNA, Messenger, 5' Untranslated Regions, Trinucleotide Repeat Expansion, mRNA gain-of-function, Molecular Biology, FXPOI, Adaptor Proteins, Signal Transducing, Biotechnology

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f79bba0dfaa9fcf907138b7ee1e440
https://doi.org/10.1096/fj.202200468rr

المؤلفون: Katharine Nichole Holm (10051655), Anthony W. Herren (4452679), Sandra L. Taylor (169294), Jamie L. Randol (8207586), Kyoungmi Kim (71466), Glenda Espinal (7342427), Verónica Martínez-Cerdeño (155789), Isaac N. Pessah (18331), Randi J. Hagerman (8207595), Paul J. Hagerman (207284)

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, FXTAS, DIA-MS, SUMO1/2, Tenascin-C, CD38, Fragile X Syndrome, FMRpolyG, FMR1

Relation: https://figshare.com/articles/figure/Image_1_Human_Cerebral_Cortex_Proteome_of_Fragile_X-Associated_Tremor_Ataxia_Syndrome_tiff/14579523

الاتاحة: https://doi.org/10.3389/fmolb.2020.600840.s002

المؤلفون: Katharine Nichole Holm (10051655), Anthony W. Herren (4452679), Sandra L. Taylor (169294), Jamie L. Randol (8207586), Kyoungmi Kim (71466), Glenda Espinal (7342427), Verónica Martínez-Cerdeño (155789), Isaac N. Pessah (18331), Randi J. Hagerman (8207595), Paul J. Hagerman (207284)

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, FXTAS, DIA-MS, SUMO1/2, Tenascin-C, CD38, Fragile X Syndrome, FMRpolyG, FMR1

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Human_Cerebral_Cortex_Proteome_of_Fragile_X-Associated_Tremor_Ataxia_Syndrome_CSV/14579520

الاتاحة: https://doi.org/10.3389/fmolb.2020.600840.s001

المؤلفون: Hila Raanani, Yoram Cohen, Adva Aizer, Shai E. Elizur, Jigal Haas, Raoul Orvieto, Olga Dratviman-Storobinsky, Moran Friedman-Gohas

المصدر: Journal of Ovarian Research
Journal of Ovarian Research, Vol 13, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, Stromal cell, Ataxia, Ovary, Mice, Transgenic, Primary Ovarian Insufficiency, Transfection, lcsh:Gynecology and obstetrics, 03 medical and health sciences, Fragile X Mental Retardation Protein, Mice, 0302 clinical medicine, Ubiquitin, RAN translation, Tremor, medicine, Animals, Humans, COV434, lcsh:RG1-991, FXPOI, Granulosa Cells, biology, Research, Neurodegeneration, Obstetrics and Gynecology, FMR1 premutation carriers, medicine.disease, FMR1, Cell biology, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Oncology, Fragile X Syndrome, FMRpolyG, Mutation, biology.protein, Female, Folliculogenesis, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae0eec0b44f3ab4a0e159ffdc0f29fd
http://europepmc.org/articles/PMC7045455

المؤلفون: Bridget McLaughlin, Randi J Hagerman, Verónica Martínez-Cerdeño, Isaac N. Pessah, Lisa Ma, Paul J. Hagerman, Jamie L. Randol, Glenda M. Espinal, Anthony W. Herren

المصدر: Acta neuropathologica communications, vol 7, iss 1
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-26 (2019)

مصطلحات موضوعية: Male, Proteomics, Intranuclear Inclusion Bodies, Neurodegenerative, lcsh:RC346-429, 0302 clinical medicine, Ubiquitin, Tremor, 2.1 Biological and endogenous factors, Aetiology, Nuclear protein, 0303 health sciences, biology, Chemistry, Neurodegeneration, neurodegeneration, Flow Cytometry, Frontal Lobe, Cell biology, Neurological, FMRpolyG, Female, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Context (language use), Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Rare Diseases, proteomics, ubiquitin, Genetics, medicine, Humans, Amino Acid Sequence, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Research, Neurosciences, medicine.disease, FMR1, Brain Disorders, inclusion, proteasome, CGG repeat, SUMO, Fragile X Syndrome, Fragile X, biology.protein, Ataxia, Neurology (clinical), FXTAS, Biochemistry and Cell Biology, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Fragile X-associated tremor/ataxia syndrome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056a0f320ae2fed2487a7e4b128b9b5e
https://escholarship.org/uc/item/1z08r4dd

المؤلفون: Kyoungmi Kim, Michael R. Hunsaker, Lies Anne Severijnen, Saif N Haify, Rob Willemsen, Albert R. La Spada, H. Jürgen Wenzel, Paul J. Hagerman, Christopher Raske, Bryce L. Sopher, Robert F. Berman, Karl D Murray, Renate K. Hukema, Jared J. Schwartzer

المساهمون: Clinical Genetics

المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-22 (2019)
Acta neuropathologica communications, vol 7, iss 1
Acta neuropathologica communications (online), 7:27. BioMed Central Ltd.

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Gene Expression, Cell Communication, Neurodegenerative, Inbred C57BL, Transgenic, lcsh:RC346-429, Fragile X Mental Retardation Protein, Mice, 0302 clinical medicine, Tremor, Non-cell-autonomous, Neocortex, biology, Neurodegeneration, Fragile X premutation, Motor Skills Disorders, medicine.anatomical_structure, Neurological, FMRpolyG, medicine.symptom, Astrocyte, medicine.medical_specialty, Ataxia, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Mice, Transgenic, Neuropathology, Pathology and Forensic Medicine, Mouse model, 03 medical and health sciences, Cellular and Molecular Neuroscience, Rare Diseases, RAN translation, Glia, Genetics, medicine, Animals, lcsh:Neurology. Diseases of the nervous system, Electron microscopy of inclusions, Base Sequence, Research, Neurosciences, medicine.disease, FMR1, Brain Disorders, Mice, Inbred C57BL, 030104 developmental biology, nervous system, Astrocytes, Fragile X Syndrome, biology.protein, Biochemistry and Cell Biology, Neurology (clinical), FXTAS, NeuN, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b49cece15f6dccdea58eef0157e4f053
https://pure.eur.nl/en/publications/77148a37-8e09-4607-b8b4-2ebf267fbb6f

المؤلفون: Lisa Ma (72555), Anthony W. Herren (4452679), Glenda Espinal (7342427), Jamie Randol (7342430), Bridget McLaughlin (7342433), Veronica Martinez-Cerdeño (7547252), Isaac N. Pessah (18331), Randi J. Hagerman (8207595), Paul J. Hagerman (207284)

مصطلحات موضوعية: Genetics, Fragile X, neurodegeneration, proteomics, CGG repeat, proteasome, inclusion, FXTAS, FMRpolyG, SUMO, ubiquitin

Relation: https://figshare.com/articles/dataset/Additional_file_2_of_Composition_of_the_Intranuclear_Inclusions_of_Fragile_X-associated_Tremor_Ataxia_Syndrome/10049753

الاتاحة: https://doi.org/10.6084/m9.figshare.10049753.v2

المؤلفون: Buijsen, Ronald, Sellier, Chantal, Severijnen, Lies-Anne, Oulad-Abdelghani, Mustapha, Verhagen, Rob, Berman, Robert F, Charlet-Berguerand, Nicolas, Willemsen, Rob, Hukema, Renate K

مصطلحات موضوعية: FXTAS, CGG repeat, FMRpolyG, RAN translation, Gain-of-function, Inclusions

Relation: http://www.actaneurocomms.org/content/2/1/162

الاتاحة: http://www.actaneurocomms.org/content/2/1/162