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1. Full Text X‐chromosome inactivation in female patients with Fabry disease
by Echevarria, L and Benistan, K and Toussaint, A and Dubourg, O and Hagege, A.A and Eladari, D and Jabbour, F and Beldjord, C and De Mazancourt, P and Germain, D.P
Clinical genetics, ISSN 0009-9163, 01/2016, Volume 89, Issue 1, pp. 44 - 54
phenotype | Fabry disease | heterozygotes | enzyme replacement therapy | X‐chromosome inactivation | Heterozygotes | Phenotype | Enzyme replacement therapy | X-chromosome inactivation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Severity of Illness Index | alpha-Galactosidase - genetics | Promoter Regions, Genetic | Fabry Disease - genetics | Humans | Middle Aged | alpha-Galactosidase - metabolism | RNA, Long Noncoding - genetics | Genetic Diseases, X-Linked - diagnosis | Kidney Function Tests | Young Adult | Ventricular Remodeling | Fabry Disease - metabolism | Adult | Female | Genetic Diseases, X-Linked - genetics | Heterozygote | Aged | Enzyme Activation | Mutation | Fabry Disease - diagnosis | X Chromosome Inactivation | Women | Genetic research | Enzymes | Diagnostic imaging | Methylation | Health aspects | DNA methylation | Genotype & phenotype | Genetic disorders | Females | Magnetic resonance imaging | Cardiomyopathy | X chromosomes | Population studies | Heart diseases | Fabry's disease | Glomerular filtration rate | Kidney transplantation | Index Medicus
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2. Full Text Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
by Mechtler, Thomas P, MD and Stary, Susanne, PhD and Metz, Thomas F, MSc and De Jesús, Víctor R, PhD and Greber-Platzer, Susanne, MD and Pollak, Arnold, Prof and Herkner, Kurt R, PhD and Streubel, Berthold, Prof and Kasper, David C, PhD
The Lancet (British edition), ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | General aspects | Prevention and actions | Biological and medical sciences | Medical sciences | Epidemiology | alpha-Galactosidase - genetics | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Fabry Disease - genetics | Glucosylceramidase - blood | Humans | Male | Neonatal Screening | Incidence | Lysosomal Storage Diseases - diagnosis | Female | Niemann-Pick Diseases - diagnosis | Niemann-Pick Diseases - genetics | Infant, Newborn | alpha-Glucosidases - blood | Glycogen Storage Disease Type II - genetics | Lysosomal Storage Diseases - epidemiology | Austria - epidemiology | Lysosomal Storage Diseases - genetics | alpha-Galactosidase - blood | alpha-Glucosidases - genetics | Gaucher Disease - genetics | Glycogen Storage Disease Type II - diagnosis | Mutation | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Sphingomyelin Phosphodiesterase - blood | Metabolism, Inborn errors of | Infants (Newborn) | Usage | Medical examination | Diagnosis | Research | Babies | Quality control | Cystic fibrosis | Medical screening | Metabolism | Disease control | Blood | Metabolic disorders | Index Medicus | Abridged Index Medicus
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3. Full Text Characterization of raffinose metabolism genes uncovers a wild Arachis galactinol synthase conferring tolerance to abiotic stresses
by Vinson, Christina C and Mota, Ana P. Z and Porto, Brenda N and Oliveira, Thais N and Sampaio, Iracyara and Lacerda, Ana L and Danchin, Etienne G. J and Guimaraes, Patricia M and Williams, Thomas C. R and Brasileiro, Ana C. M
Scientific reports, ISSN 2045-2322, 12/2020, Volume 10, Issue 1, pp. 15258 - 15258
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Arabidopsis - genetics | Disaccharides - genetics | Plant Proteins - genetics | Raffinose - genetics | Droughts | Stress, Physiological - genetics | Plants, Genetically Modified | Arachis - genetics | Gene Expression Regulation, Plant - genetics | Galactosyltransferases - genetics | Oligosaccharides - genetics | beta-Fructofuranosidase - genetics | Index Medicus
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4. Full Text AAV2 Vector Harboring a Liver-Restricted Promoter Facilitates Sustained Expression of Therapeutic Levels of α-Galactosidase A and the Induction of Immune Tolerance in Fabry Mice
by Ziegler, Robin J and Lonning, Scott M and Armentano, Donna and Li, Chester and Souza, David W and Cherry, Maribeth and Ford, Christine and Barbon, Christine M and Desnick, Robert J and Gao, Guangping and Wilson, James M and Peluso, Richard and Godwin, Simon and Carter, Barrie J and Gregory, Richard J and Wadsworth, Samuel C and Cheng, Seng H
Molecular therapy, ISSN 1525-0016, 02/2004, Volume 9, Issue 2, pp. 231 - 240
lysosomal storage diseases | immune tolerance | AAV2 vector | glycosphingolipids | Fabry disease | gene therapy | liver-specific promoters | Glycosphingolipids | Immune tolerance | Lysosomal storage diseases | Gene therapy | Liver-specific promoters | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | alpha-Galactosidase - genetics | DNA, Recombinant - genetics | Dependovirus - genetics | Genetic Therapy | alpha-Galactosidase - therapeutic use | Genetic Vectors - administration & dosage | Fabry Disease - genetics | Liver - metabolism | Immune Tolerance | Male | Mice, Transgenic | alpha-Galactosidase - metabolism | Promoter Regions, Genetic - genetics | Genetic Vectors - genetics | Animals | Genetic Engineering | Enhancer Elements, Genetic - genetics | Mice | Mice, Inbred BALB C | Fabry Disease - therapy | Disease Models, Animal | Index Medicus
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5. Full Text Long-term Transgene Expression from Plasmid DNA Gene Therapy Vectors Is Negatively Affected by CpG Dinucleotides
by Hodges, Bradley L and Taylor, Kristin M and Joseph, Macy F and Bourgeois, Sarah A and Scheule, Ronald K
Molecular therapy, ISSN 1525-0016, 08/2004, Volume 10, Issue 2, pp. 269 - 278
Gene therapy | Lysosomal storage disease | Methylation | Hydrodynamics-based | Naked DNA | Hemophilia | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | alpha-Galactosidase - genetics | Factor IX - analysis | Humans | RNA, Messenger - analysis | DNA, Superhelical - genetics | alpha-Galactosidase - metabolism | RNA, Messenger - metabolism | Promoter Regions, Genetic - genetics | DNA Methylation | Plasmids - genetics | Factor IX - metabolism | Transduction, Genetic - methods | Cytomegalovirus - genetics | Gene Expression | Lysosomal Storage Diseases - therapy | Liver - metabolism | Transgenes - genetics | Factor IX - genetics | Hemophilia A - therapy | Genetic Vectors - genetics | Liver - chemistry | alpha-Galactosidase - blood | Animals | CpG Islands - genetics | Mice | DNA, Superhelical - metabolism | Genetic Therapy - methods | Index Medicus
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6. Full Text Transcriptome and Hormone Analyses Revealed Insights into Hormonal and Vesicle Trafficking Regulation among Olea europaea Fruit Tissues in Late Development
by Briegas, Beatriz and Corbacho, Jorge and Parra-Lobato, Maria C and Paredes, Miguel A and Labrador, Juana and Gallardo, Mercedes and Gomez-Jimenez, Maria C
International journal of molecular sciences, ISSN 1422-0067, 07/2020, Volume 21, Issue 14, p. 4819
alpha-Galactosidase - genetics | Gene Regulatory Networks - genetics | beta-N-Acetylhexosaminidases - metabolism | Cell Wall - genetics | Gene Expression Regulation, Plant - genetics | Gene Expression Profiling - methods | alpha-Galactosidase - metabolism | Olea - genetics | Signal Transduction - genetics | Transcriptome - genetics | Cell Wall - metabolism | Olea - metabolism | Plant Growth Regulators - genetics | beta-N-Acetylhexosaminidases - genetics | Plant Growth Regulators - metabolism | Fruit - metabolism | Fruit - genetics | Enrichment | Chitinase | Profiling | Transcription | Genes | Crosstalk | Galactosidase | Genomes | Fruits | Abscission | Proteins | Xyloglucan | Pericarp | Protein families | Laccase | Cultivars | Enzymes | Hydrolase | Cell walls | Arabinogalactan | Gene expression | Ripening | Studies | Mannanases | Cellulase | Index Medicus | plant hormone | transcriptomic comparative | cell wall | fruit ripening | olive | endomembrane trafficking
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7. Genetics and gene therapy of anderson-fabry disease
by Simonetta, Irene and Tuttolomondo, Antonino and Di Chiara, Tiziana and Miceli, Salvatore and Vogiatzis, Danai and Corpora, Francesca and Pinto, Antonio
Current gene therapy, ISSN 1566-5232, 2018, Volume 18, Issue 2, pp. 96 - 106
Fabry disease | Viral vectors | Chaperone therapy | Alpha galactosidase A | Gene therapy | Enzyme replacement therapy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Recombinant Proteins - therapeutic use | alpha-Galactosidase - genetics | Dependovirus - genetics | Trihexosylceramides - metabolism | alpha-Galactosidase - therapeutic use | Isoenzymes - therapeutic use | Fabry Disease - genetics | Humans | Biomarkers - analysis | alpha-Galactosidase - administration & dosage | Recombinant Proteins - administration & dosage | Enzyme Replacement Therapy - adverse effects | Enzyme Replacement Therapy - methods | Animals | Rare Diseases - therapy | Isoenzymes - administration & dosage | Mice | Fabry Disease - therapy | Mutation | Genetic Vectors | Disease Models, Animal | Genetic Therapy - adverse effects | Genetic Therapy - methods | Heart | Animal models | Recombination | Enzyme activity | Central nervous system | Galactosidase | Chaperones | Tissues | Accumulation | Cerebrovascular system | Renal insufficiency | Pain | Enzymatic activity | a-Galactosidase | Bioaccumulation | Genetics | Diagnosis | Heart diseases | Enzymes | Signs and symptoms | Stroke | Typing | Medical treatment | Hypohidrosis | Heredity | Pharmacology | Coronary artery disease | Fabry's disease | Quality of life | Laboratory tests | Glycosphingolipids | Stem cells | Biomarkers | Ventricle | Females | Hypertrophy | Proteinuria
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8. Full Text A multi-substrate approach for functional metagenomics-based screening for (hemi)cellulases in two wheat straw-degrading microbial consortia unveils novel thermoalkaliphilic enzymes
by Maruthamuthu, Mukil and Jiménez Avella, Diego and Stevens, Patricia and van Elsas, Jan Dirk
BMC genomics, ISSN 1471-2164, 2016, Volume 17, Issue 1, pp. 86 - 86
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Cellulases - genetics | alpha-Galactosidase - genetics | Gene Library | Metagenomics - methods | Carbohydrate Metabolism - genetics | Cellulases - chemistry | Cellulases - metabolism | Xylosidases - genetics | High-Throughput Nucleotide Sequencing | Microbial Consortia - genetics | beta-Galactosidase - genetics | Gene Order | Metagenome | Triticum - microbiology | Enzymes | Microbial genetics | Genomics | Physiological aspects | Hydrolases | Genetic aspects | Research | Index Medicus
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9. Full Text Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
by Wilcox, William R and Oliveira, João Paulo and Hopkin, Robert J and Ortiz, Alberto and Banikazemi, Maryam and Feldt-Rasmussen, Ulla and Sims, Katherine and Waldek, Stephen and Pastores, Gregory M and Lee, Philip and Eng, Christine M and Marodi, Laszlo and Stanford, Kevin E and Breunig, Frank and Wanner, Christoph and Warnock, David G and Lemay, Roberta M and Germain, Dominique P and Fabry Registry
Molecular genetics and metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 112 - 128
Stroke | Cardiomyopathy | Fabry disease | Heterozygote | Alpha-galactosidase A | Chronic kidney disease | Enzyme replacement | Proteinuria | Quality of life | SF-36 | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | alpha-Galactosidase - genetics | alpha-Galactosidase - therapeutic use | Fabry Disease - genetics | United States | Humans | Middle Aged | Male | Cardiovascular Diseases - genetics | Fabry Disease - pathology | Kidney Diseases - genetics | Adult | Female | Registries | Glomerular Filtration Rate | Sex Characteristics | Organ Specificity | Phenotype | Adolescent | Age of Onset | Fabry Disease - physiopathology | Quality of Life | Cerebrovascular Disorders - genetics | Fabry Disease - diagnosis | Longitudinal Studies | Medical genetics | Index Medicus
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