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1. Full Text In vivo genome editing of the albumin locus as a platform for protein replacement therapy
by Sharma, Rajiv and Anguela, Xavier M and Doyon, Yannick and Wechsler, Thomas and DeKelver, Russell C and Sproul, Scott and Paschon, David E and Miller, Jeffrey C and Davidson, Robert J and Shivak, David and Zhou, Shangzhen and Rieders, Julianne and Gregory, Philip D and Holmes, Michael C and Rebar, Edward J and High, Katherine A
Blood, ISSN 0006-4971, 10/2015, Volume 126, Issue 15, pp. 1777 - 1784
Life Sciences & Biomedicine | Hematology | Science & Technology | Hemophilia B - therapy | Dependovirus - genetics | Genetic Therapy | Transgenes - physiology | Genetic Vectors - administration & dosage | Fabry Disease - genetics | RNA Editing | Humans | Lysosomes - enzymology | Gaucher Disease - therapy | Promoter Regions, Genetic - genetics | Mucopolysaccharidosis I - therapy | Mucopolysaccharidosis II - therapy | Mucopolysaccharidosis II - genetics | Real-Time Polymerase Chain Reaction | Enzyme Replacement Therapy | Zinc Fingers | Albumins - metabolism | Liver - metabolism | Mice, Inbred C57BL | RNA, Messenger - genetics | Factor VIII - genetics | Factor IX - genetics | Hemophilia B - genetics | Hemophilia A - therapy | Reverse Transcriptase Polymerase Chain Reaction | Animals | Gaucher Disease - genetics | Endonucleases | Mucopolysaccharidosis I - genetics | Hemophilia A - genetics | High-Throughput Nucleotide Sequencing | Mice | Fabry Disease - therapy | Genome | Albumins - genetics | Index Medicus | Abridged Index Medicus | Gene Therapy
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2. Full Text Emerging links between pediatric lysosomal storage diseases and adult parkinsonism
by Ysselstein, Daniel and Shulman, Joshua M and Krainc, Dimitri
Movement disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 614 - 624
genetics | Parkinson's disease | movement disorders | lysosomal storage disease | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Mucopolysaccharidosis III - genetics | Humans | Lysosomal Storage Diseases - genetics | Sandhoff Disease - genetics | Parkinson Disease - genetics | Phenotype | Gaucher Disease - genetics | Neuronal Ceroid-Lipofuscinoses - genetics | Proton-Translocating ATPases - genetics | Galactosylceramidase - genetics | Adult | Parkinsonian Disorders - genetics | Leukodystrophy, Globoid Cell - genetics | Mutation | Child | Niemann-Pick Diseases - genetics | Pediatrics | Genetics | Children | Epidemiology | Risk factors | Cells | Diseases | Basal ganglia | Neurodegenerative diseases | Central nervous system diseases | Homeostasis | Lysosomes | Lysosomal storage diseases | Neurological diseases | Evolution | Glucosylceramidase | Movement disorders | Gaucher's disease | Index Medicus | Parkinson’s Disease | Lysosomal Storage Disease | Movement Disorders
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3. Full Text The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel
by Zlotogora, Joël
Human genetics, ISSN 0340-6717, 11/2010, Volume 128, Issue 5, pp. 473 - 479
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Maple Syrup Urine Disease - genetics | Humans | Genetic Diseases, Inborn - genetics | Hypoparathyroidism - genetics | Christianity | Genetic Diseases, Inborn - epidemiology | Genes, Recessive | Intellectual Disability - genetics | Epidermolysis Bullosa - genetics | Leukodystrophy, Metachromatic - genetics | Islam | Israel - epidemiology | Xanthomatosis, Cerebrotendinous - genetics | Albinism - genetics | Arabs - genetics | Ataxia Telangiectasia - genetics | Bardet-Biedl Syndrome - genetics | Mucopolysaccharidosis I - genetics | Leukodystrophy, Globoid Cell - genetics | Mutation | Druses | Deafness | Genetic disorders | Index Medicus
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4. Full Text Transduction Characteristics of Adeno-associated Virus Vectors Expressing Cap Serotypes 7, 8, 9, and Rh10 in the Mouse Brain
by Cearley, Cassia N and Wolfe, John H
Molecular therapy, ISSN 1525-0016, 03/2006, Volume 13, Issue 3, pp. 528 - 537
Vector transport | β-glucuronidase | MPS VII | Serotype | Capsid | Lysosomal storage disease | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dependovirus - genetics | Genetic Therapy | Axons - enzymology | Capsid - classification | Humans | Capsid - enzymology | RNA, Messenger - metabolism | Brain - metabolism | Mucopolysaccharidosis VII - virology | Virus Assembly - genetics | Mucopolysaccharidosis VII - genetics | Serotyping | Disease Models, Animal | Transduction, Genetic | Genetic Vectors - immunology | Capsid Proteins - metabolism | Mucopolysaccharidosis VII - therapy | Genetic Vectors - genetics | Mice, Inbred C3H | Animals | Glucuronidase - biosynthesis | Glucuronidase - genetics | Genetic Vectors - biosynthesis | Mice | Axons - virology | Capsid Proteins - biosynthesis | Capsid Proteins - genetics | Virus diseases | Enzymes | Brain damage | Viral proteins | Neurons | Viral genetics | Index Medicus
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5. Full Text A block of autophagy in lysosomal storage disorders
by Settembre, Carmine and Fraldi, Alessandro and Jahreiss, Luca and Spampanato, Carmine and Venturi, Consuelo and Medina, Diego and de Pablo, Raquel and Tacchetti, Carlo and Rubinsztein, David C and Ballabio, Andrea
Human molecular genetics, ISSN 0964-6906, 1/2008, Volume 17, Issue 1, pp. 119 - 129
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Lysosomal Storage Diseases, Nervous System - physiopathology | Microtubule-Associated Proteins - genetics | Lysosomal Storage Diseases - physiopathology | Microtubule-Associated Proteins - metabolism | Humans | Mucopolysaccharidosis III - pathology | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Autophagy - physiology | DNA Primers - genetics | Lysosomal Storage Diseases, Nervous System - pathology | Ubiquitination | Transfection | Base Sequence | Multiple Sulfatase Deficiency Disease - pathology | Lysosomes - pathology | Autophagy - genetics | Mucopolysaccharidosis III - physiopathology | Membrane Fusion | Mucopolysaccharidosis III - genetics | Cells, Cultured | Lysosomal Storage Diseases - genetics | Mitochondria - pathology | Lysosomal Storage Diseases, Nervous System - genetics | Phagosomes - pathology | Lysosomal Storage Diseases - pathology | Nerve Degeneration - pathology | Multiple Sulfatase Deficiency Disease - genetics | Animals | Mice | Multiple Sulfatase Deficiency Disease - physiopathology | Index Medicus
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6. Full Text Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus
by Alshammari, Muneera J and Al-Otaibi, Lefian and Alkuraya, Fowzan S
Journal of Medical Genetics, ISSN 0022-2593, 07/2012, Volume 49, Issue 7, pp. 455 - 461
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Humans | Child, Preschool | Cytoplasm - metabolism | Male | rab GTP-Binding Proteins - genetics | Mucopolysaccharidosis IV - genetics | Genetic Loci | Intellectual Disability - genetics | Exome | Osteochondrodysplasias - genetics | Adult | Female | Genetic Diseases, X-Linked - genetics | Cytoplasm - genetics | Child | Genetic Linkage | rab GTP-Binding Proteins - metabolism | Fluorescent Antibody Technique - methods | Genotype | Genes, Recessive | Genetic Heterogeneity | Dwarfism - genetics | Mucopolysaccharidosis IV - physiopathology | Osteochondrodysplasias - congenital | Pedigree | Golgi Apparatus - metabolism | Consanguinity | Mutation | Golgi Apparatus - genetics | Index Medicus
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7. Full Text Central Nervous System Delivery of Helper-Dependent Canine Adenovirus Corrects Neuropathology and Behavior in Mucopolysaccharidosis Type VII Mice
by Ariza, Lorena and Giménez-Llort, Lydia and Cubizolle, Aurélie and Pagès, Gemma and García-Lareu, Belén and Serratrice, Nicolas and Cots, Dan and Thwaite, Rosemary and Chillón, Miguel and Kremer, Eric J and Bosch, Assumpció
Human gene therapy, ISSN 1043-0342, 03/2014, Volume 25, Issue 3, pp. 199 - 211
Research Articles | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Genetic Therapy | Genetic Vectors - administration & dosage | Glucuronidase - metabolism | Lysosomes - enzymology | Behavior, Animal | Brain - metabolism | Microglia - immunology | Helper Viruses | Adenoviruses, Canine - genetics | Mucopolysaccharidosis VII - genetics | Transgenes | Disease Models, Animal | Gene Expression | Genetic Vectors - immunology | Glycosaminoglycans - metabolism | Mucopolysaccharidosis VII - therapy | Immunity, Innate | Genetic Vectors - genetics | Injections | Animals | Glucuronidase - genetics | Dogs | Brain - pathology | Mice | Enzyme Activation | Brain - immunology | Index Medicus | Life Sciences | Biochemistry, Molecular Biology
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8. Full Text An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA
by Gray, Anna L and O'Leary, Claire and Liao, Aiyin and Agúndez, Leticia and Youshani, Amir S and Gleitz, Hélène F and Parker, Helen and Taylor, Jessica T and Danos, Olivier and Hocquemiller, Michaël and Palomar, Nuria and Linden, R. Michael and Henckaerts, Els and Holley, Rebecca J and Bigger, Brian W
Human gene therapy, ISSN 1043-0342, 09/2019, Volume 30, Issue 9, pp. 152 - 1066
Research Articles | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dependovirus - genetics | Hydrolases - genetics | Genetic Vectors - administration & dosage | Corpus Striatum - metabolism | Organ Specificity - genetics | Mucopolysaccharidosis III - metabolism | Neurons - metabolism | Transgenes | Gene Order | Disease Models, Animal | Gene Expression | Mucopolysaccharidosis III - physiopathology | Transduction, Genetic | Cytokines - metabolism | Mucopolysaccharidosis III - genetics | Treatment Outcome | Genetic Vectors - genetics | Genetic Vectors - isolation & purification | Animals | Fluorescent Antibody Technique | Mucopolysaccharidosis III - therapy | Biomarkers | Mice | Enzyme Activation | Genetic Therapy - adverse effects | Genetic Therapy - methods | Exchanging | Heparan sulfate | Enzymes | Level (quantity) | Enzyme activity | Poultry | Clinical trials | Trinucleotide repeats | Fluorescence | Lysosomal storage diseases | Viruses | Cognition | Mucopolysaccharidosis | Injection | Phosphoglycerate kinase | Sulfates | Kinases | Gene expression | Enzymatic activity | Neurodegeneration | Actin | Green fluorescent protein | Gene therapy | Expression vectors | Index Medicus
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9. Full Text Adeno-Associated Virus Vectors and Stem Cells: Friends or Foes?
by Brown, Nolan and Song, Liujiang and Kollu, Nageswara R and Hirsch, Matthew L
Human gene therapy, ISSN 1043-0342, 06/2017, Volume 28, Issue 6, pp. 45 - 463
Review Article | gene therapy | AAV vectors | ITR, stem cell | stem cell therapy | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Genetic Therapy - ethics | Parkinson Disease - therapy | Cell- and Tissue-Based Therapy - methods | Dependovirus - genetics | Immunologic Deficiency Syndromes - pathology | Stem Cells - immunology | Humans | Transplantation, Autologous | Stem Cells - cytology | Stem Cells - metabolism | Anemia, Aplastic - therapy | Mucopolysaccharidosis I - therapy | Immunologic Deficiency Syndromes - immunology | Transduction, Genetic - methods | Anemia, Aplastic - genetics | Anemia, Aplastic - pathology | Immunologic Deficiency Syndromes - therapy | Parkinson Disease - pathology | Dependovirus - metabolism | Genetic Vectors - chemistry | Mucopolysaccharidosis I - pathology | Parkinson Disease - immunology | Genetic Vectors - metabolism | Multiple Sclerosis - genetics | Parkinson Disease - genetics | Multiple Sclerosis - therapy | Mucopolysaccharidosis I - immunology | Stem Cell Transplantation - methods | Immunologic Deficiency Syndromes - genetics | Multiple Sclerosis - immunology | Multiple Sclerosis - pathology | Mucopolysaccharidosis I - genetics | Transduction, Genetic - standards | Anemia, Aplastic - immunology | Genetic Therapy - methods | Cell culture | Graft-versus-host reaction | Therapy | Multiple sclerosis | Parkinson's disease | Disease | Toxicity | Stem cell transplantation | Viruses | Lymphocytes T | Mucopolysaccharidosis | Infusion | Neurotoxicity | Immunology | Lymphocytes | Movement disorders | Expression vectors | Autografts | Neurodegenerative diseases | Gene transfer | Anemia | Therapeutic applications | Medical treatment | Immunodeficiency | Aplastic anemia | Nucleic acids | Patients | Stem cells | Index Medicus | Review | stem cell | ITR
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