المؤلفون: Zhang N; Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, PR China., Liu F; Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, PR China.; Department of Neurology, Qilu Hospital of Shandong University, Jinan, PR China., Zhao Y; Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, PR China.; Department of Neurology, Qilu Hospital of Shandong University, Jinan, PR China., Sun X; Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, PR China.; Department of Neurology, Qilu Hospital of Shandong University, Jinan, PR China., Wen B; Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, PR China.; Department of Neurology, Qilu Hospital of Shandong University, Jinan, PR China., Lu JQ; Department of Pathology and Molecular Medicine, Division of Neuropathology, McMaster University, Hamilton, Ontario, Canada., Yan C; Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, PR China.; Department of Neurology, Qilu Hospital of Shandong University, Jinan, PR China.; Qingdao Key Laboratory of Rare Diseases, Qilu Hospital (Qingdao) of Shandong University, Qingdao, PR China., Li D; Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, PR China.; Department of Neurology, Qilu Hospital of Shandong University, Jinan, PR China.

المصدر: The Journal of pathology [J Pathol] 2024 May; Vol. 263 (1), pp. 8-21. Date of Electronic Publication: 2024 Feb 09.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley And Sons Country of Publication: England NLM ID: 0204634 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9896 (Electronic) Linking ISSN: 00223417 NLM ISO Abbreviation: J Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/genetics , Glycogen Storage Disease Type II*/pathology , Glycogen Storage Disease Type II*/therapy , Glycoproteins*, Humans ; Mice ; Animals ; Glycogen/analysis ; Glycogen/metabolism ; Glucosyltransferases/metabolism ; Muscle, Skeletal/pathology ; Lysosomes/metabolism

المؤلفون: Zhuo S; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Bai M; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Wang Z; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Chen L; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Li Z; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Zhu X; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Chen J; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Ye X; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Guo C; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China., Chen Y; CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of Sciences, Chinese Academy of SciencesShanghaiPeople's Republic of China.

المصدر: American journal of physiology. Endocrinology and metabolism [Am J Physiol Endocrinol Metab] 2024 May 01; Vol. 326 (5), pp. E696-E708. Date of Electronic Publication: 2024 Apr 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901226 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1555 (Electronic) Linking ISSN: 01931849 NLM ISO Abbreviation: Am J Physiol Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Thermogenesis*/genetics , Thermogenesis*/physiology , Obesity*/metabolism , Obesity*/genetics , Adipose Tissue, Beige*/metabolism , Glycogen*/metabolism , Glycogen*/biosynthesis , Diet, High-Fat*, Animals ; Mice ; Male ; Mice, Knockout ; Mice, Inbred C57BL ; Adipose Tissue, Brown/metabolism ; Adipose Tissue, White/metabolism ; Glycogen Synthase/metabolism ; Glycogen Synthase/genetics ; Cold Temperature ; Adaptation, Physiological ; Uncoupling Protein 1/metabolism ; Uncoupling Protein 1/genetics

المؤلفون: Koch RL; Division of Medical Genetics, Department of Pediatrics, and., Kiely BT; Division of Medical Genetics, Department of Pediatrics, and., Choi SJ; Division of Medical Genetics, Department of Pediatrics, and., Jeck WR; Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA., Flores LS; Division of Medical Genetics, Department of Pediatrics, and., Sood V; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India., Alam S; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India., Porta G; Hepatology and Liver Transplant Unit, Menino Jesus Hospital, São Paulo, Brazil., LaVecchio K; Department of Pathology, The Queen's Medical Center, Honolulu, Hawaii, USA., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, and.

المصدر: JCI insight [JCI Insight] 2024 May 14; Vol. 9 (12). Date of Electronic Publication: 2024 May 14.

نوع المنشور: Journal Article; Comparative Study

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Disease Models, Animal* , Glycogen Storage Disease Type IV*/genetics , Glycogen Storage Disease Type IV*/pathology , Glycogen Storage Disease Type IV*/metabolism , Liver*/pathology , Liver*/metabolism, Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mice ; Middle Aged ; Young Adult ; Disease Progression ; Glycogen Debranching Enzyme System/genetics ; Glycogen Debranching Enzyme System/metabolism ; Liver Diseases/pathology ; Liver Diseases/metabolism

المؤلفون: Do H; M6P Therapeutics, 20 S. Sarah Street, St. Louis, MO 63108, USA., Meena NK; M6P Therapeutics, 20 S. Sarah Street, St. Louis, MO 63108, USA., Raben N; M6P Therapeutics, 20 S. Sarah Street, St. Louis, MO 63108, USA.

المصدر: Biomolecules [Biomolecules] 2024 May 13; Vol. 14 (5). Date of Electronic Publication: 2024 May 13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/pathology , Glycogen Storage Disease Type II*/metabolism , Autophagy*, Humans ; Animals ; Glycogen/metabolism ; Lysosomes/metabolism ; alpha-Glucosidases/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/metabolism

المؤلفون: Markussen KH; Department of Molecular and Cellular Biochemistry, College of Medicine, University of Kentucky, Lexington, Kentucky, USA., Corti M; Department of Pediatrics, Powell Gene Therapy Center, College of Medicine, University of Florida, Gainesville, Florida, USA., Byrne BJ; Department of Pediatrics, Powell Gene Therapy Center, College of Medicine, University of Florida, Gainesville, Florida, USA., Vander Kooi CW; Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, Florida, USA.; Center for Advanced Spatial Biomolecule Research, University of Florida, Gainesville, Florida, USA.; Lafora Epilepsy Cure Initiative, Gainesville, Florida, USA., Sun RC; Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, Florida, USA.; Center for Advanced Spatial Biomolecule Research, University of Florida, Gainesville, Florida, USA.; Lafora Epilepsy Cure Initiative, Gainesville, Florida, USA., Gentry MS; Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, Florida, USA.; Center for Advanced Spatial Biomolecule Research, University of Florida, Gainesville, Florida, USA.; Lafora Epilepsy Cure Initiative, Gainesville, Florida, USA.

المصدر: Journal of neurochemistry [J Neurochem] 2024 May; Vol. 168 (5), pp. 728-743. Date of Electronic Publication: 2023 Aug 09.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley on behalf of the International Society for Neurochemistry Country of Publication: England NLM ID: 2985190R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-4159 (Electronic) Linking ISSN: 00223042 NLM ISO Abbreviation: J Neurochem Subsets: MEDLINE

مواضيع طبية MeSH: Brain*/metabolism , Glycogen*/metabolism, Animals ; Humans ; Glycogen Storage Disease/metabolism

المؤلفون: El Hajjar L; Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille, Lille F-59000, France.; CNRS EMR9002 Integrative Structural Biology, Lille F-59000, France., Page A; Protein Science Facility, SFR Biosciences Univ Lyon, ENS de Lyon, CNRS UAR3444, Inserm US8, Université Claude Bernard Lyon 1, 50 Avenue Tony Garnier, Lyon F-69007, France., Bridot C; Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille, Lille F-59000, France.; CNRS EMR9002 Integrative Structural Biology, Lille F-59000, France., Cantrelle FX; Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille, Lille F-59000, France.; CNRS EMR9002 Integrative Structural Biology, Lille F-59000, France., Landrieu I; Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille, Lille F-59000, France.; CNRS EMR9002 Integrative Structural Biology, Lille F-59000, France., Smet-Nocca C; Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille, Lille F-59000, France.; CNRS EMR9002 Integrative Structural Biology, Lille F-59000, France.

المصدر: Biochemistry [Biochemistry] 2024 Jun 18; Vol. 63 (12), pp. 1513-1533. Date of Electronic Publication: 2024 May 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 0370623 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-4995 (Electronic) Linking ISSN: 00062960 NLM ISO Abbreviation: Biochemistry Subsets: MEDLINE

مواضيع طبية MeSH: tau Proteins*/metabolism , tau Proteins*/chemistry , Glycogen Synthase Kinase 3 beta*/metabolism , Proto-Oncogene Proteins c-akt*/metabolism, Phosphorylation ; Humans ; Protein Processing, Post-Translational ; Glycogen Synthase Kinase 3/metabolism ; Acetylglucosamine/metabolism ; N-Acetylglucosaminyltransferases/metabolism ; N-Acetylglucosaminyltransferases/chemistry ; Glycosylation ; Animals

المؤلفون: Zeng Q; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., Machado M; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Bie C; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., van Zijl PCM; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., Malvar S; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Li Y; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., D'souza V; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., Poon KA; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Grimm A; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Yadav NN; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA.

المصدر: Magnetic resonance in medicine [Magn Reson Med] 2024 Mar; Vol. 91 (3), pp. 1115-1121. Date of Electronic Publication: 2023 Nov 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8505245 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-2594 (Electronic) Linking ISSN: 07403194 NLM ISO Abbreviation: Magn Reson Med Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type III*/diagnostic imaging , Glycogen Storage Disease Type III*/genetics, Animals ; Mice ; Glycogen/metabolism ; Liver Glycogen ; Disease Models, Animal ; Magnetic Resonance Imaging ; Mice, Knockout

المؤلفون: Mitra S; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA. sharmistha.mitra@utsouthwestern.edu., Chen B; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Shelton JM; Department of Internal Medicine, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9148, USA., Nitschke S; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Wu J; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Covington L; Department of Internal Medicine, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9148, USA., Dear M; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Lynn T; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Verma M; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Nitschke F; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Fuseya Y; Department of Molecular and Cellular Physiology, Kyoto University School of Medicine, Kyoto, 606-8501, Japan., Iwai K; Department of Molecular and Cellular Physiology, Kyoto University School of Medicine, Kyoto, 606-8501, Japan., Evers BM; Departments of Pathology and Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9073, USA., Minassian BA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA. berge.minassian@utsouthwestern.edu.

المصدر: Acta neuropathologica [Acta Neuropathol] 2024 Feb 27; Vol. 147 (1), pp. 46. Date of Electronic Publication: 2024 Feb 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type IV* , Glycogen Storage Disease* , Nervous System Diseases*, Animals ; Mice ; Glycogen ; Ubiquitin-Protein Ligases ; Ubiquitins ; Mammals

SCR Disease Name: Polyglucosan Body Disease, Adult Form

المؤلفون: Lefèvre CR; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.; Department of Biochemistry and Toxicology, University Hospital, Rennes, France., Collardeau-Frachon S; Department of Pathology, Hospices Civils de Lyon and Soffoet (Société Française de Fœtopathologie), Bron, France., Streichenberger N; Department of Pathology, Hospices Civils de Lyon - Université Claude Bernard Lyon1 - Institut NeuroMyogène CNRS UMR 5261 - INSERM U1315, France., Berenguer-Martin S; Department of Pathology, University Hospital, Bordeaux, France., Clémenson A; Department of Pathology, University Hospital, Saint-Etienne, France., Massardier J; Multidisciplinary Center for Prenatal Diagnosis, Department of Obstetrics and Gynecology, Hospices Civils de Lyon, Femme Mere Enfant University Hospital, Bron, France., Prieur F; Department of Clinical, Chromosomal and Molecular Genetics, University Hospital, Saint-Etienne, France., Laurichesse H; Department of Gynecology, University Hospital, Clermont-Ferrand, France., Laffargue F; Department of Genetics, University Hospital, Clermont-Ferrand, France., Acquaviva-Bourdain C; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France., Froissart R; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France., Pettazzoni M; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 255-269. Date of Electronic Publication: 2023 Nov 27.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type IV*/genetics , Glycogen Storage Disease Type IV*/pathology , Arthrogryposis*/complications , Arthrogryposis*/pathology , Glycogen Storage Disease*/complications, Infant, Newborn ; Humans ; Female ; Pregnancy ; Glycogen ; Muscle, Skeletal/pathology ; Muscular Atrophy/complications ; Muscular Atrophy/pathology

المؤلفون: Muñoz S; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Instituto de Salud Carlos III, Spain., Bertolin J; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain., Jimenez V; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Instituto de Salud Carlos III, Spain., Jaén ML; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Instituto de Salud Carlos III, Spain., Garcia M; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Instituto de Salud Carlos III, Spain., Pujol A; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain., Vilà L; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Instituto de Salud Carlos III, Spain., Sacristan V; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Instituto de Salud Carlos III, Spain., Barbon E; INTEGRARE, Genethon, INSERM UMR951, Univ Evry, Université Paris-Saclay, 91002, Evry, France., Ronzitti G; INTEGRARE, Genethon, INSERM UMR951, Univ Evry, Université Paris-Saclay, 91002, Evry, France., El Andari J; Department of Infectious Diseases/Virology, Section Viral Vector Technologies, BioQuant Center, Medical Faculty, University of Heidelberg, 69120, Heidelberg, Germany., Tulalamba W; Department of Gene Therapy & Regenerative Medicine, Vrije Universiteit Brussel (VUB), B-1090, Brussels, Belgium; Department of Cardiovascular Sciences, Center for Molecular & Vascular Biology, University of Leuven, 3000, Leuven, Belgium., Pham QH; Department of Gene Therapy & Regenerative Medicine, Vrije Universiteit Brussel (VUB), B-1090, Brussels, Belgium; Department of Cardiovascular Sciences, Center for Molecular & Vascular Biology, University of Leuven, 3000, Leuven, Belgium., Ruberte J; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Animal Health and Anatomy, School of Veterinary Medicine, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain., VandenDriessche T; Department of Gene Therapy & Regenerative Medicine, Vrije Universiteit Brussel (VUB), B-1090, Brussels, Belgium; Department of Cardiovascular Sciences, Center for Molecular & Vascular Biology, University of Leuven, 3000, Leuven, Belgium., Chuah MK; Department of Gene Therapy & Regenerative Medicine, Vrije Universiteit Brussel (VUB), B-1090, Brussels, Belgium; Department of Cardiovascular Sciences, Center for Molecular & Vascular Biology, University of Leuven, 3000, Leuven, Belgium., Grimm D; Department of Infectious Diseases/Virology, Section Viral Vector Technologies, BioQuant Center, Medical Faculty, University of Heidelberg, 69120, Heidelberg, Germany; German Center for Infection Research (DZIF) and German Center for Cardiovascular Research (DZHK), Partner site Heidelberg, Heidelberg, Germany., Mingozzi F; INTEGRARE, Genethon, INSERM UMR951, Univ Evry, Université Paris-Saclay, 91002, Evry, France., Bosch F; Center of Animal Biotechnology and Gene Therapy (CBATEG), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Instituto de Salud Carlos III, Spain. Electronic address: fatima.bosch@uab.es.

المصدر: Molecular metabolism [Mol Metab] 2024 Mar; Vol. 81, pp. 101899. Date of Electronic Publication: 2024 Feb 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier GmbH Country of Publication: Germany NLM ID: 101605730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-8778 (Electronic) Linking ISSN: 22128778 NLM ISO Abbreviation: Mol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/genetics , Glycogen Storage Disease Type II*/therapy , Glycogen Storage Disease Type II*/pathology, Mice ; Rats ; Humans ; Animals ; Muscle, Skeletal/metabolism ; Glycogen/metabolism ; Genetic Therapy/methods ; Cardiomegaly/metabolism ; Cardiomegaly/pathology ; Cardiomegaly/therapy