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Tytuł:
Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.
Autorzy:
Tobacman JK; Jesse Brown VA Medical Center, University of Illinois at Chicago, Chicago, IL 60612, USA.
Bhattacharyya S; Jesse Brown VA Medical Center, University of Illinois at Chicago, Chicago, IL 60612, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Oct 29; Vol. 23 (21). Date of Electronic Publication: 2022 Oct 29.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mucopolysaccharidosis VI*/genetics
Mucopolysaccharidosis VI*/metabolism
N-Acetylgalactosamine-4-Sulfatase*/genetics
N-Acetylgalactosamine-4-Sulfatase*/metabolism
Humans ; Chondroitin Sulfates/metabolism ; Dermatan Sulfate ; Sulfates
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Increase in Chondroitin Sulfate and Decline in Arylsulfatase B May Contribute to Pathophysiology of COVID-19 Respiratory Failure.
Autorzy:
Tzankov A; Pathology, University Hospital Basel, Institute of Medical Genetics and Pathology, University of Basel, Basel, Switzerland.
Bhattacharyya S; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.; Jesse Brown VA Medical Center, Chicago, Illinois, USA.
Kotlo K; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.; Jesse Brown VA Medical Center, Chicago, Illinois, USA.
Tobacman JK; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.; Jesse Brown VA Medical Center, Chicago, Illinois, USA.
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Źródło:
Pathobiology : journal of immunopathology, molecular and cellular biology [Pathobiology] 2022; Vol. 89 (2), pp. 81-91. Date of Electronic Publication: 2021 Nov 17.
Typ publikacji:
Journal Article
MeSH Terms:
COVID-19*
N-Acetylgalactosamine-4-Sulfatase*/genetics
N-Acetylgalactosamine-4-Sulfatase*/metabolism
Respiratory Insufficiency*
Chondroitin Sulfates/metabolism ; Glycosaminoglycans/metabolism ; Humans ; Membrane Glycoproteins ; Sulfotransferases
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
Autorzy:
Leiro B; Phillips Consulting, Chapel Hill, NC, USA. .
Phillips D; Phillips Consulting, Chapel Hill, NC, USA.
Duiker M; Paradigm Biopharmaceuticals Limited, Melbourne, VIC, Australia.
Harmatz P; UCSF Benioff Children's Hospital, Oakland, CA, USA.
Charles S; Paradigm Biopharmaceuticals Limited, Melbourne, VIC, Australia.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 02; Vol. 16 (1), pp. 500. Date of Electronic Publication: 2021 Dec 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Activities of Daily Living*
Mucopolysaccharidosis VI*/complications
Mucopolysaccharidosis VI*/drug therapy
N-Acetylgalactosamine-4-Sulfatase*
Quality of Life*
Caregivers ; Child ; Enzyme Replacement Therapy ; Focus Groups ; Humans ; Motor Skills Disorders/etiology ; Pain/etiology ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.
Autorzy:
İnci A; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Okur İ; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Tümer L; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Biberoğlu G; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Öktem M; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey.
Ezgü F; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Faculty of Medicine, Gazi University, Mevlana Bulvarı No 29, Emniyet Mahallesi, Yenimahalle, Ankara, 06560, Turkey. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 19; Vol. 16 (1), pp. 438. Date of Electronic Publication: 2021 Oct 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mucopolysaccharidosis VI*/drug therapy
N-Acetylgalactosamine-4-Sulfatase*
Adolescent ; Child ; Child, Preschool ; Enzyme Replacement Therapy ; Humans ; Radiography ; Retrospective Studies ; Turkey
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism.
Autorzy:
Poterala-Hejmo A; Department of Systems Biology and Engineering, Silesian University of Technology, 44-100 Gliwice, Poland.
Golda A; Department of Cardiology, 4th Municipal Hospital, 44-100 Gliwice, Poland.
Pacholczyk M; Department of Systems Biology and Engineering, Silesian University of Technology, 44-100 Gliwice, Poland.
Student S; Department of Systems Biology and Engineering, Silesian University of Technology, 44-100 Gliwice, Poland.
Tylki-Szymańska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Lalik A; Department of Systems Biology and Engineering, Silesian University of Technology, 44-100 Gliwice, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Jul 12; Vol. 21 (14). Date of Electronic Publication: 2020 Jul 12.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Dermatan Sulfate/*metabolism
Myocytes, Smooth Muscle/*enzymology
N-Acetylgalactosamine-4-Sulfatase/*physiology
Amino Acid Sequence ; Arylsulfatases/biosynthesis ; Arylsulfatases/chemistry ; Arylsulfatases/genetics ; Catalytic Domain ; Dermatan Sulfate/pharmacology ; Endothelial Cells/drug effects ; Endothelial Cells/enzymology ; Gene Silencing ; Humans ; Models, Molecular ; Mucopolysaccharidosis VI/metabolism ; Myocytes, Smooth Muscle/drug effects ; N-Acetylgalactosamine-4-Sulfatase/chemistry ; Organ Specificity ; Protein Binding ; Protein Conformation ; Pulmonary Artery/cytology ; RNA, Messenger/biosynthesis ; Sequence Alignment ; Sequence Homology, Amino Acid ; Tissue Array Analysis ; Up-Regulation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
Autorzy:
D'Avanzo F; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
Zanetti A; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
De Filippis C; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
Tomanin R; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 15; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 15.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mucopolysaccharidosis VI/*genetics
Mucopolysaccharidosis VI/*physiopathology
Chondroitin Sulfates/therapeutic use ; Enzyme Replacement Therapy ; Glycosaminoglycans/therapeutic use ; Humans ; Mucopolysaccharidosis VI/therapy ; N-Acetylgalactosamine-4-Sulfatase/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Inhibition of Phosphatase Activity Follows Decline in Sulfatase Activity and Leads to Transcriptional Effects through Sustained Phosphorylation of Transcription Factor MITF.
Autorzy:
Bhattacharyya S; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, 60612, United States of America.; Jesse Brown VA Medical Center, Chicago, Illinois, 60612, United States of America.
Feferman L; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, 60612, United States of America.; Jesse Brown VA Medical Center, Chicago, Illinois, 60612, United States of America.
Tobacman JK; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, 60612, United States of America.; Jesse Brown VA Medical Center, Chicago, Illinois, 60612, United States of America.
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Źródło:
PloS one [PLoS One] 2016 Apr 14; Vol. 11 (4), pp. e0153463. Date of Electronic Publication: 2016 Apr 14 (Print Publication: 2016).
Typ publikacji:
Journal Article
MeSH Terms:
Microphthalmia-Associated Transcription Factor/*metabolism
N-Acetylgalactosamine-4-Sulfatase/*metabolism
Animals ; Cells, Cultured ; Chondroitin Sulfates/chemistry ; Chondroitin Sulfates/metabolism ; Galectin 3/antagonists & inhibitors ; Galectin 3/genetics ; Galectin 3/metabolism ; Hep G2 Cells ; Humans ; Membrane Glycoproteins/genetics ; Membrane Glycoproteins/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; N-Acetylgalactosamine-4-Sulfatase/antagonists & inhibitors ; N-Acetylgalactosamine-4-Sulfatase/genetics ; Phosphorylation ; Promoter Regions, Genetic ; Protein Binding ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/chemistry ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/metabolism ; RNA Interference ; RNA, Messenger/metabolism ; RNA, Small Interfering/metabolism ; p38 Mitogen-Activated Protein Kinases/antagonists & inhibitors ; p38 Mitogen-Activated Protein Kinases/metabolism ; src Homology Domains
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Autorzy:
Raj K; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
Berman-Booty L; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
Foureman P; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
Giger U; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, 19104-6010, USA.
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Źródło:
Animal genetics [Anim Genet] 2020 Dec; Vol. 51 (6), pp. 982-986. Date of Electronic Publication: 2020 Sep 28.
Typ publikacji:
Journal Article
MeSH Terms:
Dog Diseases/*genetics
Dogs/*genetics
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Animals ; Breeding ; Exons ; Gene Frequency ; Homozygote ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of Novel ARSB Genes Necessary for p-Benzoquinone Biosynthesis in the Larval Oral Secretion Participating in External Immune Defense in the Red Palm Weevil.
Autorzy:
Pu YC; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Liang XY; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Zhang H; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Zhang HJ; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Xu LN; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Ji YN; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Huang SN; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Bai J; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
Hou YM; State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.; Fujian Provincial Key Laboratory of Insect Ecology, College of Plant Protection, Fujian Agriculture and Forestry University, Fuzhou 350002, Fujian, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Feb 26; Vol. 21 (5). Date of Electronic Publication: 2020 Feb 26.
Typ publikacji:
Journal Article
MeSH Terms:
Benzoquinones/*metabolism
Larva/*genetics
Larva/*metabolism
N-Acetylgalactosamine-4-Sulfatase/*genetics
N-Acetylgalactosamine-4-Sulfatase/*metabolism
Weevils/*genetics
Weevils/*immunology
Animals ; Body Fluids/immunology ; Immunity ; Insecta/genetics ; Larva/immunology ; RNA Interference ; Salivary Glands/immunology ; Salivary Glands/metabolism ; Transcriptome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Arylsulfatase B regulates versican expression by galectin-3 and AP-1 mediated transcriptional effects.
Autorzy:
Bhattacharyya S; 1] Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA [2] Jesse Brown VA Medical Center, Chicago, IL, USA.
Feferman L; 1] Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA [2] Jesse Brown VA Medical Center, Chicago, IL, USA.
Tobacman JK; 1] Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA [2] Jesse Brown VA Medical Center, Chicago, IL, USA.
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Źródło:
Oncogene [Oncogene] 2014 Nov 20; Vol. 33 (47), pp. 5467-76. Date of Electronic Publication: 2013 Nov 18.
Typ publikacji:
Journal Article
MeSH Terms:
Galectin 3/*metabolism
N-Acetylgalactosamine-4-Sulfatase/*metabolism
Prostatic Neoplasms/*metabolism
Versicans/*metabolism
Amino Acid Sequence ; Animals ; Blood Proteins ; Cell Line, Tumor ; Chondroitin Sulfates/metabolism ; ErbB Receptors/genetics ; ErbB Receptors/metabolism ; Galectin 3/genetics ; Galectins ; Gene Expression Regulation, Neoplastic ; Genes, fos ; Genes, jun ; Humans ; Male ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Molecular Sequence Data ; N-Acetylgalactosamine-4-Sulfatase/genetics ; Promoter Regions, Genetic ; Prostatic Neoplasms/genetics ; Transcription Factor AP-1/genetics ; Transcription Factor AP-1/metabolism ; Versicans/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Autorzy:
Honjo RS; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil. .
Vaca ECN; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.
Leal GN; Setor de Ecocardiografia do SADT do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Abellan DM; Departamento de Pediatria - Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Ikari NM; Unidade de Cardiologia Pediátrica do Incor - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Jatene MB; Unidade Cirúrgica Infantil do Instituto do Coração - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Martins AM; Departamento de Pediatria - Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo, São Paulo, Brazil.
Kim CA; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.
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Źródło:
BMC medical genetics [BMC Med Genet] 2020 Feb 19; Vol. 21 (1), pp. 37. Date of Electronic Publication: 2020 Feb 19.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Heart/*physiopathology
Heart Failure/*genetics
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Ascites ; Brazil/epidemiology ; Disease Progression ; Heart/diagnostic imaging ; Heart Failure/diagnosis ; Heart Failure/diagnostic imaging ; Heart Failure/physiopathology ; Humans ; Infant ; Male ; Mucopolysaccharidosis VI/diagnostic imaging ; Mucopolysaccharidosis VI/physiopathology ; Mutation ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.
Autorzy:
Wu X; Department of Nephrology, Tianjin Children's Hospital, 238 Longyan Road, Beichen District, Tianjin, China.
Wang W; Department of Nephrology, Tianjin Children's Hospital, 238 Longyan Road, Beichen District, Tianjin, China. .
Liu Y; Department of Nephrology, Tianjin Children's Hospital, 238 Longyan Road, Beichen District, Tianjin, China.
Chen W; Department of Nephrology, Tianjin Children's Hospital, 238 Longyan Road, Beichen District, Tianjin, China.
Zhao L; Department of Pathology, Tianjin Children's Hospital, 238 Longyan Road, Beichen District, Tianjin, China.
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Źródło:
BMC medical genetics [BMC Med Genet] 2019 Oct 28; Vol. 20 (1), pp. 165. Date of Electronic Publication: 2019 Oct 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Consanguinity*
Marriage*
Mutation*
Alkyl and Aryl Transferases/*genetics
Methylprednisolone/*therapeutic use
N-Acetylgalactosamine-4-Sulfatase/*genetics
Nephrotic Syndrome/*genetics
Drug Resistance ; Fatal Outcome ; Female ; Genetic Carrier Screening ; Homozygote ; Humans ; Infant ; Male ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/therapy ; Pedigree ; Peritoneal Dialysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Autorzy:
Akyol MU; Department of Otolaryngology, Hacettepe University, Ankara, Turkey.
Alden TD; Department of Neurosurgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Amartino H; Child Neurology Department, Hospital Universitario Austral, Buenos Aires, Argentina.
Ashworth J; Department of Paediatric Ophthalmology, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Belani K; Department of Anesthesiology, University of Minnesota, Minneapolis, MN, USA.
Berger KI; Departments of Medicine and Neuroscience and Physiology, New York University School of Medicine, André Cournand Pulmonary Physiology Laboratory, Bellevue Hospital, New York, NY, USA.
Borgo A; Orthopaedics Clinic, Padova University Hospital, Padova, Italy.
Braunlin E; Division of Pediatric Cardiology, University of Minnesota, Minneapolis, MN, USA.
Eto Y; Advanced Clinical Research Centre, Institute of Neurological Disorders, Kanagawa, Japan and Department of Paediatrics/Gene Therapy, Tokyo Jikei University School of Medicine, Tokyo, Japan.
Gold JI; Keck School of Medicine, Departments of Anesthesiology, Pediatrics, and Psychiatry & Behavioural Sciences, Children's Hospital Los Angeles, Department of Anesthesiology Critical Care Medicine, 4650 Sunset Boulevard, Los Angeles, CA, USA.
Jester A; Hand and Upper Limb Service, Department of Plastic Surgery, Birmingham Women's and Children's Hospital, Birmingham, UK.
Jones SA; Willink Biochemical Genetic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Karsli C; Department of Anesthesiology and Pain Medicine, The Hospital for Sick Children, Toronto, Canada.
Mackenzie W; Department of Orthopedics, Nemours/Alfred I. Dupont Hospital for Children, Wilmington, DE, USA.
Marinho DR; Department of Ophthalmology, UFRGS, and Ophthalmology Service, HCPA, Porto Alegre, Brazil.
McFadyen A; The Isaac Foundation, Campbellford, ON, Canada.
McGill J; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
Mitchell JJ; Division of Pediatric Endocrinology, Montreal Children's Hospital, Montreal, QC, Canada.
Muenzer J; Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Okuyama T; Department of Clinical Laboratory Medicine, National Centre for Child Health and Development, Tokyo, Japan.
Orchard PJ; Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Stevens B; MPS Society, Amersham, Buckinghamshire, UK.
Thomas S; MPS Society, Amersham, Buckinghamshire, UK.
Walker R; Department of Paediatric Anaesthesia, Royal Manchester Children's Hospital, Manchester, UK.
Wynn R; Department of Paediatric Haematology, Royal Manchester Children's Hospital, Manchester, UK.
Giugliani R; Department of Genetics, UFRGS, and Medical Genetics Service, HCPA, Porto Alegre, Brazil. .
Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Hendriksz C; Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.
Scarpa M; Center for Rare Diseases at Host Schmidt Kliniken, Wiesbaden, Germany and Department of Paediatrics, University of Padova, Padova, Italy.
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Corporate Authors:
MPS Consensus Programme Steering Committee
MPS Consensus Programme Co-Chairs
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 May 29; Vol. 14 (1), pp. 118. Date of Electronic Publication: 2019 May 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Management*
Activities of Daily Living ; Consensus ; Enzyme Replacement Therapy ; Hematopoietic Stem Cell Transplantation ; Humans ; Mucopolysaccharidoses/diagnosis ; Mucopolysaccharidoses/drug therapy ; Mucopolysaccharidoses/metabolism ; Mucopolysaccharidoses/surgery ; Mucopolysaccharidosis VI/diagnosis ; Mucopolysaccharidosis VI/drug therapy ; Mucopolysaccharidosis VI/metabolism ; Mucopolysaccharidosis VI/surgery ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; Quality of Life ; Recombinant Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
Autorzy:
Ho CC; Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong Special Administrative Region, China.
Tsung LL; Department of Paediatrics & Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong Special Administrative Region, China.
Liu KT; Department of Paediatrics & Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong Special Administrative Region, China.
Poon WT; Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong Special Administrative Region, China. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2018 Sep 12; Vol. 19 (1), pp. 162. Date of Electronic Publication: 2018 Sep 12.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Codon, Nonsense*
Mucolipidoses/*genetics
Transferases (Other Substituted Phosphate Groups)/*genetics
Child, Preschool ; Chondroitinsulfatases/genetics ; Chondroitinsulfatases/metabolism ; Gene Expression Regulation ; Genes, Recessive ; Humans ; Iduronate Sulfatase/genetics ; Iduronate Sulfatase/metabolism ; Iduronidase/genetics ; Iduronidase/metabolism ; Lysosomes/enzymology ; Lysosomes/pathology ; Male ; Mucolipidoses/diagnosis ; Mucolipidoses/enzymology ; Mucolipidoses/pathology ; N-Acetylgalactosamine-4-Sulfatase/genetics ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; Pedigree ; Transferases (Other Substituted Phosphate Groups)/deficiency ; beta-Hexosaminidase alpha Chain/genetics ; beta-Hexosaminidase alpha Chain/metabolism
SCR Disease Name:
Mucolipidosis III Alpha Beta, Atypical
Czasopismo naukowe
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Tytuł:
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Autorzy:
Saito S; Department of Medical Management and Informatics, Hokkaido Information University, Ebetsu, Hokkaido, Japan.
Ohno K
Sekijima M
Suzuki T
Sakuraba H
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Źródło:
Journal of human genetics [J Hum Genet] 2012 Apr; Vol. 57 (4), pp. 280-2. Date of Electronic Publication: 2012 Feb 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Databases, Genetic*
User-Computer Interface*
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Genotype ; Humans ; Internet ; Mutation ; N-Acetylgalactosamine-4-Sulfatase/chemistry ; Phenotype
Czasopismo naukowe
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Tytuł:
Hypoxia reduces arylsulfatase B activity and silencing arylsulfatase B replicates and mediates the effects of hypoxia.
Autorzy:
Bhattacharyya S; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, United States of America.
Tobacman JK
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Źródło:
PloS one [PLoS One] 2012; Vol. 7 (3), pp. e33250. Date of Electronic Publication: 2012 Mar 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Gene Expression Regulation/*physiology
Hypoxia/*metabolism
N-Acetylgalactosamine-4-Sulfatase/*metabolism
Oxygen/*metabolism
Signal Transduction/*physiology
Sulfatases/*metabolism
Analysis of Variance ; DNA Primers/genetics ; Enzyme-Linked Immunosorbent Assay ; Epithelial Cells ; Fluorometry ; Galectin 3/metabolism ; Gene Expression Regulation/drug effects ; Gene Knockdown Techniques ; Glutathione/metabolism ; Humans ; Hypoxia/enzymology ; Hypoxia-Inducible Factor 1, alpha Subunit/metabolism ; Intestinal Mucosa/cytology ; N-Acetylgalactosamine-4-Sulfatase/genetics ; Oxidation-Reduction ; Oxidoreductases Acting on Sulfur Group Donors ; Oxygen/pharmacology ; Polymerase Chain Reaction ; RNA, Small Interfering/genetics ; Respiratory Mucosa/cytology ; Sulfatases/genetics
Czasopismo naukowe
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Tytuł:
Distinct Effects of Carrageenan and High-Fat Consumption on the Mechanisms of Insulin Resistance in Nonobese and Obese Models of Type 2 Diabetes.
Autorzy:
Bhattacharyya S; Department of Medicine, University of Illinois at Chicago and Jesse Brown VA Medical Center, Chicago, IL 60612, USA.
Feferman L; Department of Medicine, University of Illinois at Chicago and Jesse Brown VA Medical Center, Chicago, IL 60612, USA.
Tobacman JK; Department of Medicine, University of Illinois at Chicago and Jesse Brown VA Medical Center, Chicago, IL 60612, USA.
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Źródło:
Journal of diabetes research [J Diabetes Res] 2019 Apr 15; Vol. 2019, pp. 9582714. Date of Electronic Publication: 2019 Apr 15 (Print Publication: 2019).
Typ publikacji:
Journal Article
MeSH Terms:
Insulin Resistance*
Carrageenan/*pharmacology
Diabetes Mellitus, Type 2/*complications
Diabetes Mellitus, Type 2/*therapy
Diet, High-Fat/*adverse effects
Animals ; B-Cell CLL-Lymphoma 10 Protein/metabolism ; Cyclic N-Oxides/pharmacology ; Disease Models, Animal ; GRB10 Adaptor Protein/metabolism ; Galectin 3/metabolism ; Gene Expression Regulation ; Glucose Intolerance ; Hep G2 Cells ; Humans ; Inflammation ; Insulin/metabolism ; Liver/metabolism ; Macrophages/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; Protein Binding ; RNA, Small Interfering/metabolism ; Signal Transduction ; Spin Labels ; Triglycerides/metabolism
Czasopismo naukowe
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Tytuł:
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.
Autorzy:
Harmatz P; Pediatric Clinical Research Center, Hospital and Research Center at Oakland, Oakland, CA 94609, USA. />Kramer WG
Hopwood JJ
Simon J
Butensky E
Swiedler SJ
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Corporate Authors:
Mucopolysaccharidosis VI Study Group
Źródło:
Acta paediatrica (Oslo, Norway : 1992). Supplement [Acta Paediatr Suppl] 2005 Mar; Vol. 94 (447), pp. 61-8; discussion 57.
Typ publikacji:
Clinical Trial; Clinical Trial, Phase I; Clinical Trial, Phase II; Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Glycosaminoglycans/*urine
Mucopolysaccharidosis VI/*drug therapy
N-Acetylgalactosamine-4-Sulfatase/*pharmacokinetics
N-Acetylgalactosamine-4-Sulfatase/*therapeutic use
Adolescent ; Child ; Double-Blind Method ; Female ; Humans ; Male ; Models, Biological ; Mucopolysaccharidosis VI/metabolism ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; Recombinant Proteins/therapeutic use
Czasopismo naukowe
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Tytuł:
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
Autorzy:
Zanetti A; Department of Pediatrics and Centre for Rare Diseases, University of Padova, Padova, Italy.
Ferraresi E
Picci L
Filocamo M
Parini R
Rosano C
Tomanin R
Scarpa M
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Sep; Vol. 17 (9), pp. 1160-4. Date of Electronic Publication: 2009 Mar 04.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Polymorphism, Single Nucleotide*
Mucopolysaccharidosis IV/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Models, Molecular ; Mucopolysaccharidosis IV/diagnosis ; Mucopolysaccharidosis IV/enzymology ; Mutation, Missense ; N-Acetylgalactosamine-4-Sulfatase/chemistry ; Pedigree ; Protein Conformation ; Risk Factors ; Syndrome
Czasopismo naukowe
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