المؤلفون: Benjamin Arnson, Hye Ri Kang, Elizabeth D. Brooks, Dorothy Gheorghiu, Ekaterina Ilich, David Courtney, Jeffrey I. Everitt, Bryan R. Cullen, Dwight D. Koeberl

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 108-119 (2023)

مصطلحات موضوعية: genome editing, CRISPR-Cas9, adeno-associated virus vectors, inherited disorder of metabolism, glycogen storage disease, glucose-6-phosphatase, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050123000372Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/8282e120c0924cec897cf976a2665255Test

المؤلفون: Hye-Ri Kang, Monika Gjorgjieva, Stephanie N. Smith, Elizabeth D. Brooks, Zelin Chen, Shawn M. Burgess, Randy J. Chandler, Lauren R. Waskowicz, Kylie M. Grady, Songtao Li, Gilles Mithieux, Charles P. Venditti, Fabienne Rajas, Dwight D. Koeberl

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 383-391 (2019)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S232905011930124XTest; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/b62c7d87ff05429b9ac33973aa0abe54Test

المؤلفون: Dwight D. Koeberl, Tsubasa Kudo, Stuart A. Grant, Yajun Wu, Elizabeth D. Brooks, Bay Boon Huat, Paul M. Yen, Lauren R Waskowicz, Zollie A Yavarow, Sarah P. Young, Dustin J. Landau, Haoyue Zhang, Jin Zhou, Andrea Lim

المصدر: Human Molecular Genetics. 28:143-154

مصطلحات موضوعية: medicine.medical_specialty, Glucose-6-Phosphate, Glycogen Storage Disease Type I, Biology, Mice, 03 medical and health sciences, chemistry.chemical_compound, Dogs, Internal medicine, Autophagy, Genetics, medicine, Animals, Molecular Biology, Beta oxidation, Triglycerides, Genetics (clinical), Mice, Knockout, 0303 health sciences, Glycogen storage disease type I, Bezafibrate, Triglyceride, Glycogen, 030305 genetics & heredity, Fatty liver, General Medicine, Lipid Metabolism, medicine.disease, Disease Models, Animal, Fatty acid synthase, Glucose, Endocrinology, Liver, chemistry, Lipogenesis, Glucose-6-Phosphatase, biology.protein, General Article, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42069c3829c7fb6def2bbd2ad3b9164Test
https://doi.org/10.1093/hmg/ddy343Test

المؤلفون: Stephanie Smith, Charles P. Venditti, Hye-Ri Kang, Shawn M. Burgess, Gilles Mithieux, Randy J. Chandler, Fabienne Rajas, Kylie M. Grady, Lauren R Waskowicz, Zelin Chen, Songtao Li, Elizabeth D. Brooks, Monika Gjorgjieva, Dwight D. Koeberl

المساهمون: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, Nutrition, diabète et cerveau, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), National Human Genome Research Institute (NHGRI), We acknowledge funding for this work provided by the Children's Fund for GSD Research, Children’s Miracle Network, Associationfor Glycogen Storage Disease, For the Love of Christopher, the Alice and YT Chen Center for Pediatric Genetics and Genomics, the French National Agency of Research (ANR-11-BSV1-009 to F.R.), Association Francophone des Glycogénoses, and grant R01DK105434-03 (to D.D.K.) from the National Institute of Diabetes and Digestive and Kidney Diseases., ANR-11-BSV1-0009,GSD1,Glycogénose de type 1a : de la physiopathologie à la thérapie génique du foie(2011), Di Carlo, Marie-Ange, BLANC - Glycogénose de type 1a : de la physiopathologie à la thérapie génique du foie - - GSD12011 - ANR-11-BSV1-0009 - BLANC - VALID, Nutrition, diabète et cerveau (NUDICE)

المصدر: Molecular Therapy-Methods and Clinical Development
Molecular Therapy-Methods and Clinical Development, Nature Publishing Group, 2019, 15, pp.383-391. ⟨10.1016/j.omtm.2019.10.016⟩
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 383-391 (2019)

مصطلحات موضوعية: 0301 basic medicine, G6PC, lcsh:QH426-470, [SDV.BA] Life Sciences [q-bio]/Animal biology, Genetic enhancement, Transgene, glycogen storage disorder type Ia, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Article, Virus, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Genetics, medicine, Glycogen storage disease, genome editing, Vector (molecular biology), lcsh:QH573-671, Molecular Biology, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, glucose-6-phosphatase, lcsh:Cytology, [SDV.BA]Life Sciences [q-bio]/Animal biology, hepatocellular carcinoma, medicine.disease, digestive system diseases, 3. Good health, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Hepatocellular carcinoma, Cancer research, Molecular Medicine, von Gierke disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8530546fa6dcb94d6f79bfd2b98f5f7fTest
https://www.hal.inserm.fr/inserm-02490225/file/1-s2.0-S232905011930124X-main.pdfTest

المؤلفون: Songtao Li, Pablo Perez-Pinera, Charles A. Gersbach, Dustin J. Landau, Hiruni S. Amarasekara, Andrew Bird, Dwight D. Koeberl, Elizabeth D. Brooks, Adam L. Mefferd

المصدر: Molecular Therapy. 24(4):697-706

مصطلحات موضوعية: 0301 basic medicine, G6PC, RNA, Untranslated, Transgene, Genetic Vectors, Glycogen Storage Disease Type I, Biology, Virus, Mice, 03 medical and health sciences, In vivo, Drug Discovery, medicine, Genetics, Animals, Molecular Biology, Zinc finger, Pharmacology, Glycogen storage disease type I, Zinc Fingers, Genetic Therapy, Endonucleases, medicine.disease, Survival Analysis, Virology, Molecular biology, Zinc finger nuclease, 3. Good health, Disease Models, Animal, Treatment Outcome, 030104 developmental biology, Glucose-6-Phosphatase, biology.protein, Molecular Medicine, Original Article, Glucose 6-phosphatase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54f5f5db70eda5ca88bfe73115da40e0Test

المؤلفون: John D'Angelo, Dustin J. Landau, Talmage T. Brown, Kylie M. Grady, K.D. Williams, Jeffrey I. Everitt, Dwight D. Koeberl, Cameron R. Bass, Elizabeth D. Brooks, Lauren R Waskowicz, Priya S. Kishnani, Yohannes G. Asfaw

المصدر: Journal of inherited metabolic disease. 41(6)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Carcinoma, Hepatocellular, Genetic enhancement, Genetic Vectors, Hypoglycemia, Glycogen Storage Disease Type I, Gastroenterology, Article, Viral vector, 03 medical and health sciences, Dogs, Internal medicine, Genetics, medicine, Carcinoma, Animals, Genetics (clinical), Kidney, business.industry, Liver Neoplasms, nutritional and metabolic diseases, Genetic Therapy, Dependovirus, medicine.disease, Polycystic ovarian disease, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Liver, Hepatocellular carcinoma, Glucose-6-Phosphatase, Female, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd9afcf3bfb7507e546a4e7df364d2bTest
https://pubmed.ncbi.nlm.nih.gov/30043186Test

المؤلفون: Dwight D. Koeberl, Priya S. Kishnani, Elizabeth D. Brooks

المصدر: Journal of Inherited Metabolic Disease. 41:913-914

مصطلحات موضوعية: 0301 basic medicine, Glycogen storage disease type I, business.industry, Genetic enhancement, MEDLINE, 030105 genetics & heredity, Bioinformatics, medicine.disease, Human genetics, Genetic therapy, Glycogen storage disease type Ia, 03 medical and health sciences, Genetics, medicine, Long term safety, business, Canine model, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7b245ce459117aa9a518930dffd0a6e7Test
https://doi.org/10.1007/s10545-018-0248-2Test

المؤلفون: Dwight D. Koeberl, Elizabeth D. Brooks, Baodong Sun

المصدر: Current Gene Therapy. 15:338-347

مصطلحات موضوعية: Genetic enhancement, Genetic Vectors, Disease, Glycogen Storage Disease Type I, Biology, Bioinformatics, Article, Immune tolerance, Small Molecule Libraries, Drug Discovery, Glycogen storage disease type II, Genetics, medicine, Animals, Humans, Glycogen storage disease, Transgenes, Molecular Biology, Genetics (clinical), Sirolimus, Glycogen storage disease type I, Glycogen Storage Disease Type II, Genetic Therapy, Glycogen Storage Disease, medicine.disease, Clinical trial, Disease Models, Animal, Immunology, Molecular Medicine, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57172ddb2e12789b5aafde7137b11b6bTest
https://doi.org/10.2174/1566523215666150630132253Test

المؤلفون: Dwight D. Koeberl, Elizabeth D. Brooks

المصدر: Journal of Inherited Metabolic Disease. 38:505-509

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genetic enhancement, Genetic Vectors, Hypoglycemia, Bioinformatics, Dog model, Article, chemistry.chemical_compound, Dogs, Internal medicine, Genetics, medicine, Animals, Glycogen storage disease, Laboratory research, Genetics (clinical), Sheep, Glycogen, business.industry, nutritional and metabolic diseases, Genetic Therapy, Dependovirus, Glycogen Storage Disease, medicine.disease, Human genetics, Disease Models, Animal, Endocrinology, chemistry, Cats, business, Large animal

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d454af33d412124cc62f4351e9e7ecTest
https://doi.org/10.1007/s10545-014-9766-8Test

المؤلفون: Dianne Little, Ramamani Arumugam, Baodong Sun, Priya S. Kishnani, Mark W. Jackson, Elizabeth D. Brooks, Sarah Curtis, Dwight D. Koeberl, Amanda Demaster, Michael Maranzano, Michael Freemark

المصدر: Molecular Genetics and Metabolism. 109:161-170

مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Glycogen Storage Disease Type I, Biology, medicine.disease_cause, Biochemistry, Article, Bone and Bones, Pathogenesis, Mice, Insulin-like growth factor, chemistry.chemical_compound, Dogs, Endocrinology, Osteogenesis, Internal medicine, Genetics, medicine, Animals, Insulin-Like Growth Factor I, Molecular Biology, Adeno-associated virus, Mice, Knockout, Glycogen storage disease type I, Glycogen, Prolactin receptor, Growth factor, Genetic Therapy, Lipid Metabolism, medicine.disease, Radiography, Liver, chemistry, Growth Hormone, Glucose-6-Phosphatase, Female, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::188f940f10d5a8e50f404ad25cf4a076Test
https://doi.org/10.1016/j.ymgme.2013.03.018Test