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- [21] SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiencyEUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (03) : 253 - 261Schlotawa, Lars论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, GermanyEnnemann, Eva Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany论文数: 引用数: h-index:机构:Schmidt, Bernhard论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Biochem 2, Gottingen, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, GermanyChakrapani, Anupam论文数: 0 引用数: 0 h-index: 0机构: NHS Fdn Trust, Birmingham Childrens Hosp, Dept Clin Inherited Metab Disorders, Birmingham, W Midlands, England Univ Bielefeld, Dept Chem, D-33615 Bielefeld, GermanyChristen, Hans-Juergen论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Bult, Dept Pediat 2, Hannover, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, GermanyMoser, Hugo论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Kennedy Krieger Inst, Neurogenet Res Ctr, Baltimore, MD USA Univ Bielefeld, Dept Chem, D-33615 Bielefeld, GermanySteinmann, Beat论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Metab, Zurich, Switzerland Univ Bielefeld, Dept Chem, D-33615 Bielefeld, GermanyDierks, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, GermanyGaertner, Jutta论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Bielefeld, Dept Chem, D-33615 Bielefeld, Germany
- [22] Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary DiseaseRespiratory Research, 18Julie Weidner论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Linnea Jarenbäck论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Kim de Jong论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Judith M. Vonk论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Maarten van den Berge论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Corry-Anke Brandsma论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12H. Marike Boezen论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Don Sin论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Yohan Bossé论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12David Nickle论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Jaro Ankerst论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Leif Bjermer论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Dirkje S. Postma论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Alen Faiz论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12Ellen Tufvesson论文数: 0 引用数: 0 h-index: 0机构: Lund University,Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12
- [23] Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44HUMAN MOLECULAR GENETICS, 2008, 17 (17) : 2610 - 2621Fraldi, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyZito, Ester论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyAnnunziata, Fabio论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyLombardi, Alessia论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyCozzolino, Marianna论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico 2, CEINGE Adv Biotechnol, I-80145 Naples, Italy Univ Naples Federico 2, Dept Organ Chem & Biochem, I-80145 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyMonti, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico 2, CEINGE Adv Biotechnol, I-80145 Naples, Italy Univ Naples Federico 2, Dept Organ Chem & Biochem, I-80145 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalySpampanato, Carmine论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyBallabio, Andrea论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy Univ Naples Federico 2, Dept Pediat, Fac Med, I-80131 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyPucci, Piero论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico 2, CEINGE Adv Biotechnol, I-80145 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalySitia, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, DIBIT HSR, I-20132 Milan, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, ItalyCosma, Maria Pia论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80131 Naples, Italy
- [24] Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the diseaseMOLECULAR GENETICS AND METABOLISM, 2017, 121 (03) : 252 - 258Jaszczuk, Ilona论文数: 0 引用数: 0 h-index: 0机构: Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, Poland Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, PolandSchlotawa, Lars论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England Univ Cambridge, Dept Physiol Dev & Neurosci, Cambridge CB2 3EG, England Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, PolandDierks, Thomas论文数: 0 引用数: 0 h-index: 0机构: Bielefeld Univ, Dept Chem, Biochem 1, Univ Str 25, D-33615 Bielefeld, Germany Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, PolandOhlenbusch, Andreas论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Child Neurol, Univ Med Ctr Goettingen, Gottingen, Germany Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, PolandKoppenhoefer, Dominique论文数: 0 引用数: 0 h-index: 0机构: Bielefeld Univ, Dept Chem, Biochem 1, Univ Str 25, D-33615 Bielefeld, Germany Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, PolandBabicz, Mariusz论文数: 0 引用数: 0 h-index: 0机构: Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Cytogenet Lab, Lublin, Poland Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, PolandLejman, Monika论文数: 0 引用数: 0 h-index: 0机构: Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Cytogenet Lab, Lublin, Poland Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, Poland论文数: 引用数: h-index:机构:Lugowska, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Inst Psychiat & Neurol, Dept Genet, Al Sobieskiego 9, PL-02957 Warsaw, Poland Univ Children Hosp, Paediat Haematol Oncol & Transplantol Dept, Lublin, Poland
- [25] Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary DiseaseRESPIRATORY RESEARCH, 2017, 18Weidner, Julie论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Sweden Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenJarenback, Linnea论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Sweden Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Swedende Jong, Kim论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, GRIAC, Dept Epidemiol, Groningen, Netherlands Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenVonk, Judith M.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, GRIAC, Dept Epidemiol, Groningen, Netherlands Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Sweden论文数: 引用数: h-index:机构:Brandsma, Corry-Anke论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, GRIAC, Dept Pulmonol, Groningen, Netherlands Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenBoezen, H. Marike论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, GRIAC, Dept Epidemiol, Groningen, Netherlands Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenSin, Don论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Respirol, Ctr Heart Lung Innovat, Vancouver, BC, Canada Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenBosse, Yohan论文数: 0 引用数: 0 h-index: 0机构: Laval Univ, Inst Univ Cardiol & Pneumol Quebec, Dept Mol Med, Quebec City, PQ, Canada Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenNickle, David论文数: 0 引用数: 0 h-index: 0机构: Merck Res Labs, Genet & Pharmacogen GpGx, Boston, MA USA Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenAnkerst, Jaro论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Sweden Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenBjermer, Leif论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Sweden Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenPostma, Dirkje S.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, GRIAC, Dept Pulmonol, Groningen, Netherlands Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenFaiz, Alen论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, GRIAC, Dept Pulmonol, Groningen, Netherlands Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, SwedenTufvesson, Ellen论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Sweden Lund Univ, Skane Univ Hosp, Dept Clin Sci Lund, Resp Med & Allergol,BMC, D12, S-22184 Lund, Sweden
- [26] Polymorphisms in the Sulfatase Modifying Factor 1 (SUMF1) gene are associated with lung function parameters in patients with COPDEUROPEAN RESPIRATORY JOURNAL, 2023, 62Ntenti, Charikleia论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Clin Resp Med, Freiburg, Germany Univ Freiburg, Fac Med, Freiburg, Germany Aristotle Univ Thessaloniki, Dept Med, Lab Pharmacol 1, Thessaloniki, Greece Univ Basel Hosp, Clin Resp Med & Pulm Cell Res, Basel, Switzerland Univ Freiburg, Clin Resp Med, Freiburg, GermanyGoulas, Antonis论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Dept Med, Lab Pharmacol 1, Thessaloniki, Greece Aristotle Univ Thessaloniki, Sch Med, Special Unit Biomed Res & Educ, Clin Res Unit, Thessaloniki, Greece Univ Freiburg, Clin Resp Med, Freiburg, GermanyGrize, Leticia论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Clin Resp Med & Pulm Cell Res, Basel, Switzerland Univ Freiburg, Clin Resp Med, Freiburg, GermanyPapakonstantinou, Eleni论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Clin Resp Med & Pulm Cell Res, Basel, Switzerland Univ Freiburg, Aristotle Univ Thessaloniki, Dept Med, Clin Resp Med,Lab Pharmacol, Fribourg, Switzerland Univ Freiburg, Clin Resp Med, Freiburg, GermanyTamm, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Clin Resp Med & Pulm Cell Res, Basel, Switzerland Univ Freiburg, Clin Resp Med, Freiburg, GermanyStolz, Daiana论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Clin Resp Med, Clin Resp Med & Pulm Cell Res, Univ Basel Hosp, Basel, Switzerland Univ Freiburg, Clin Resp Med, Freiburg, Germany
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- [30] The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotesGENE, 2003, 316 : 47 - 56Landgrebe, J论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, Germany Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, GermanyDierks, T论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, Germany Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, GermanySchmidt, B论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, Germany Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, Germanyvon Figura, K论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, Germany Univ Gottingen, Abt Biochem 2, D-37073 Gottingen, Germany