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1

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency

Lars Schlotawa, Robert Steinfeld, Kurt von Figura, Thomas Dierks, Jutta Gärtner

Journal:

Year:

2008

Language:

english

File:

PDF, 1.55 MB

english, 2008

2

The mucopolysaccharidoses: Biochemistry and clinical symptoms

H. Kresse, M. Cantz, K. von Figura, J. Glössl, E. Paschke

Journal:

Journal of Molecular Medicine

Year:

1981

Language:

english

File:

PDF, 1.14 MB

english, 1981

3

Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human Cα-Formylglycine Generating Enzyme

Thomas Dierks, Bernhard Schmidt, Ljudmila V. Borissenko, Jianhe Peng, Andrea Preusser, Malaiyalam Mariappan, Kurt von Figura

Journal:

Year:

2003

Language:

english

File:

PDF, 285 KB

english, 2003

4

Impaired Osteoclastic Bone Resorption Leads to Osteopetrosis in Cathepsin-K-Deficient Mice

Paul Saftig, Ernst Hunziker, Olaf Wehmeyer, Sheila Jones, Alan Boyde, Winfried Rommerskirch, Jorg Detlev Moritz, Peter Schu and Kurt Von Figura

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.84 MB

english, 1998

5

Thyroid functions of mouse cathepsins B, K, and L

Friedrichs, Bianca, Tepel, Carmen, Reinheckel, Thomas, Deussing, Jan, von Figura, Kurt, Herzog, Volker, Peters, Christoph, Saftig, Paul, Brix, Klaudia

Journal:

Journal of Clinical Investigation

Year:

2003

Language:

english

File:

PDF, 5.92 MB

english, 2003

6

Immuno-electron microscopical demonstration of lysosomes in human blood platelets and megakaryocytes using anti-cathepsin D

Sixma, JJ, van den Berg, A, Hasilik, A, von Figura, K, Geuze, HJ

Journal:

Year:

1985

File:

PDF, 924 KB

1985

7

Expression of mannose 6-phosphate receptors in chicken

Ulrich Matzner, Annette Hille-Rehfeld, Kurt Von Figura, Regina Pohlmann

Journal:

Developmental Dynamics

Year:

1996

Language:

english

File:

PDF, 4.03 MB

english, 1996

8

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

Dirk Isbrandt, John J. Hopwood, Kurt von Figura, Christoph Peters

Journal:

Year:

1996

Language:

english

File:

PDF, 269 KB

english, 1996

9

A novel protein modification generating an aldehyde group in sulfatases: its role in catalysis and disease

Kurt von Figura, Bernhard Schmidt, Thorsten Selmer, Thomas Dierks

Journal:

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

10

Arylsulfatase a psedodeficiency: A common polymorphism which is associated with a unique haplotype

Joël Zlotogora, Yael Furman-Shaharabani, Sandra Goldenfum, Bryan Winchester, Kurt Von Figura, Volkmar Gieselmann

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 447 KB

english, 1994

11

Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years. (Maroteaux-Lamy syndrome, type B)

H. Pilz, K. von Figura, Dr H. H. Goebel

Journal:

Annals of Neurology

Year:

1979

Language:

english

File:

PDF, 1.46 MB

english, 1979

12

Late-onset metachromatic leukodystrophy: Molecular pathology in two siblings

Dr Joachim Kappler, Kurt von Figura, Volkmar Gieselmann

Journal:

Annals of Neurology

Year:

1992

Language:

english

File:

PDF, 928 KB

english, 1992

13

An N-acetylgalactosamine-4-sulfatase mutation (ΔG238) results in a severe Maroteaux-Lamy phenotype

Tom Litjens, C. Phillip Morris, Evelyn F. Robertson, Christoph Peters, Kurt von Figura, John J. Hopwood

Journal:

Year:

1992

Language:

english

File:

PDF, 496 KB

english, 1992

14

Complex arylsulfatase A alleles causing metachromatic leukodystrophy

Joachim Kappler, Hans Jörg Sommerlade, Kurt von Figura, Volkmar Gieselmann

Journal:

Year:

1994

Language:

english

File:

PDF, 741 KB

english, 1994

15

Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews

Joël Zlotogora, Gideon Bach, Claudia Böusenberg, Ygal Barak, Kurt Von Figura, Volkmar Gieselmann

Journal:

Year:

1995

Language:

english

File:

PDF, 760 KB

english, 1995

16

Identification of formylglycine in sulfatases by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Jianhe Peng, Bernhard Schmidt, Kurt von Figura, Thomas Dierks

Journal:

Journal of Mass Spectrometry

Year:

2003

Language:

english

File:

PDF, 782 KB

english, 2003

17

Sequential detection of antigens in Western blots with differently colored products

Nicole Theisen, Eckhard Schulze Lohoff, Kurt von Figura, Andrej Hasilik

Journal:

Analytical Biochemistry

Year:

1986

Language:

english

File:

PDF, 794 KB

english, 1986

18

A 3H-labelled trisaccharide from heparin as substrate for acetyl:CoA: 2-amino-2-deoxy-α-d-glucoside N-acetyltransferase

Udo Klein, Kurt von Figura

Journal:

Carbohydrate Research

Year:

1980

Language:

english

File:

PDF, 329 KB

english, 1980

19

Deficiency of mannose 6-phosphate receptors and lysosomal storage: a morphometric analysis of hepatocytes of neonatal mice

Jacques P.M Schellens, Paul Saftig, Kurt von Figura, Vincent Everts

Journal:

Cell Biology International

Year:

2003

Language:

english

File:

PDF, 393 KB

english, 2003

20

The Dileucine Motif Within the Tail of MPR46 is Required for Sorting of the Receptor in Endosomes

Ritva Tikkanen, Stefanie Obermüller, Kristin Denzer, Rodolfo Pungitore, Hans J. Geuze, Kurt Von Figura, Stefan Höning

Journal:

Year:

2000

Language:

english

File:

PDF, 490 KB

english, 2000

21

Prenatal diagnosis of morquio's disease type a (n-acetylgalactosamine 6-sulphate sulphatase deficiency)

Kurt Von Figura, J. J. Van De Kamp, Martinus F. Niermeijer

Journal:

Prenatal Diagnosis

Year:

1982

Language:

english

File:

PDF, 183 KB

english, 1982

22

Identification of novel lysosomal matrix proteins by proteome analysis

Katrin Kollmann, Kudzai E. Mutenda, Martina Balleininger, Ellen Eckermann, Kurt von Figura, Bernhard Schmidt, Torben Lübke

Journal:

Year:

2005

Language:

english

File:

PDF, 1.04 MB

english, 2005

23

Mannose-6-phosphat-Rezeptoren: ihre Rolle beim Transport lysosomaler Proteine

Kurt von Figura

Journal:

Naturwissenschaften (The Science of Nature)

Year:

1990

File:

PDF, 783 KB

1990

24

S14.1 Mannose-6-phosphate receptors and lysosomes

R. Pohlmann, A. Hille, C. Peters, T. Braulke, V. Prill, B. Weber, K. von Figura

Journal:

Glycoconjugate Journal

Year:

1993

Language:

english

File:

PDF, 128 KB

english, 1993

25

Advances in the molecular genetics of metachromatic leukodystrophy

V. Gieselmann, K. von Figura

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 981 KB

english, 1990

26

Late onset form of mucopolysaccharidosis type I: Clinical aspect and biochemical characterization of residual α-l-iduronidase activity

K. Ullrich, H. Gröbe, K. von Figura, J. J. Hopwood, V. Muller

Journal:

Journal of Inherited Metabolic Disease

Year:

1981

Language:

english

File:

PDF, 187 KB

english, 1981

27

Role of telomere dysfunction in aging and its detection by biomarkers

Guido von Figura, Daniel Hartmann, Zhangfa Song, Karl Lenhard Rudolph

Journal:

Journal of Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 172 KB

english, 2009

28

The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomes

Jan Deussing, Roth Wera, Rommerskirch Winfried, Wiederanders Bernd, Figura von Kurt, Christoph Peters

Journal:

Mammalian Genome

Year:

1997

Language:

english

File:

PDF, 1.55 MB

english, 1997

29

LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling

Jörg Stypmann, Paul M.L. Janssen, Jürgen Prestle, Markus A. Engelen, Harald Kögler, Renate Lüllmann-Rauch, Lars Eckardt, Kurt von Figura, Jobst Landgrebe, Anna Mleczko, Paul Saftig

Journal:

Basic Research in Cardiology

Year:

2006

Language:

english

File:

PDF, 953 KB

english, 2006

30

The early vertebrateDanio rerioMr 46000 mannose-6-phosphate receptor: biochemical and functional characterisation

Suresh Koduru, Suryanarayana Raju Vegiraju, Siva Kumar Nadimpalli, Kurt von Figura, Regina Pohlmann, André Dennes

Journal:

Development Genes and Evolution

Year:

2006

Language:

english

File:

PDF, 478 KB

english, 2006

31

A novel monoclonal antibody immunoassay for the detection of human serum hepcidin

Peggy Schwarz, Pavel Strnad, Guido von Figura, Alfred Janetzko, Pierre Krayenbühl, Guido Adler, Hasan Kulaksiz

Journal:

Journal of Gastroenterology

Year:

2011

Language:

english

File:

PDF, 355 KB

english, 2011

32

A Novel Method of Forceps Biopsy Improves the Diagnosis of Proximal Biliary Malignancies

Hasan Kulaksiz, Pavel Strnad, Achim Römpp, Guido von Figura, Thomas Barth, Irene Esposito, Peter Schirmacher, Doris Henne-Bruns, Guido Adler, Adolf Stiehl

Journal:

Digestive Diseases and Sciences

Year:

2011

Language:

english

File:

PDF, 429 KB

english, 2011

33

Proteolytic degradation of glutamate decarboxylase mediates disinhibition of hippocampal CA3 pyramidal cells in cathepsin D-deficient mice

Tokiko Shimizu, Yoshinori Hayashi, Ryo Yamasaki, Jun Yamada, Jian Zhang, Kiyoharu Ukai, Masato Koike, Kazunori Mine, Kurt Von Figura, Christoph Peters, Paul Saftig, Takaichi Fukuda, Yasuo Uchiyama, Hi

Journal:

Journal of Neurochemistry

Year:

2005

Language:

english

File:

PDF, 521 KB

english, 2005

34

Lifestyle impacts on the aging-associated expression of biomarkers of DNA damage and telomere dysfunction in human blood

Zhangfa Song, Guido Von Figura, Yan Liu, Johann M. Kraus, Chad Torrice, Patric Dillon, Masami Rudolph-Watabe, Zhenyu Ju, Hans A. Kestler, Hanna Sanoff, Karl Lenhard Rudolph

Journal:

Year:

2010

Language:

english

File:

PDF, 760 KB

english, 2010

35

AP-1 and AP-3 Mediate Sorting of Melanosomal and Lysosomal Membrane Proteins into Distinct Post-Golgi Trafficking Pathways

Björn Chapuy, Ritva Tikkanen, Chris Mühlhausen, Dirk Wenzel, Kurt Von Figura, Stefan Höning

Journal:

Year:

2008

Language:

english

File:

PDF, 1.21 MB

english, 2008

36

Paralog of the formylglycine-generating enzyme – retention in the endoplasmic reticulum by canonical and noncanonical signals

Santosh Lakshmi Gande, Malaiyalam Mariappan, Bernhard Schmidt, Thomas H. Pringle, Kurt von Figura, Thomas Dierks

Journal:

Year:

2008

Language:

english

File:

PDF, 1.95 MB

english, 2008

37

10.1038/34910

De Strooper, Bart, Saftig, Paul, Craessaerts, Katleen, Vanderstichele, Hugo, Guhde, Gundula, Annaert, Wim, Von Figura, Kurt, Van Leuven, Fred

Journal:

Year:

1998

Language:

english

File:

PDF, 382 KB

english, 1998

38

10.1038/35022595

Saftig, Paul, Tanaka, Yoshitaka, Guhde, Gundula, Suter, Anke, Eskelinen, Eeva-Liisa, Hartmann, Dieter, Lüllmann-Rauch, Renate, Janssen, Paul M. L., Blanz, Judith, von Figura, Kurt

Journal:

Year:

2000

Language:

english

File:

PDF, 517 KB

english, 2000

39

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

Lübke, Torben, Marquardt, Thorsten, Etzioni, Amos, Hartmann, Enno, von Figura, Kurt, Körner, Christian

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 380 KB

english, 2001

40

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

Christian Korner, Ludwig Lehle, Kurt von Figura

Journal:

Glycoconjugate Journal

Year:

1998

Language:

english

File:

PDF, 873 KB

english, 1998

41

Identification of the Putative Mannose 6-phosphate Receptor Protein (MPR 300) in the Invertebrateunio

Yerramalla Udaya Lakshmi, Yalamarthy Radha, Annette Hille-Rehfeld, Kurt von Figura, Nadimpalli Siva Kumar

Journal:

Bioscience Reports

Year:

1999

Language:

english

File:

PDF, 1.18 MB

english, 1999

42

Identification of the Putative Mannose 6-Phosphate Receptor (MPR 46) Protein in the Invertebrate Mollusc

Siva Kumar Nadimpalli, Kurt von Figura

Journal:

Bioscience Reports

Year:

2002

Language:

english

File:

PDF, 289 KB

english, 2002

43

Structure of the Human Arylsulfatase B Gene

PETERS, Christoph, MODARESSI, Said, RUPP, Katrin, VON FIGURA, Kurt

Journal:

Biological Chemistry Hoppe-Seyler

Year:

1993

Language:

english

File:

PDF, 2.03 MB

english, 1993

44

Carbohydrate mediated recognition of lysosomal enzymes by cell surface receptors

Kurt Von Figura, Abdul Waheed, Andrej Hasilik

Journal:

Journal of Biosciences

Year:

1983

Language:

english

File:

PDF, 133 KB

english, 1983

45

Effect of temperature on endocytosis and degradation of sulphated proteoglycans by cultured skin fibroblasts

Perumana R. Sudhakaran, Roswitha Prinz, Kurt Von Figura

Journal:

Journal of Biosciences

Year:

1982

Language:

english

File:

PDF, 291 KB

english, 1982

46

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA

Dirk Isbrandt, Kurt von Figura

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1995

Language:

english

File:

PDF, 211 KB

english, 1995

47

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

Thomas Dierks, Lars Schlotawa, Marc-André Frese, Karthikeyan Radhakrishnan, Kurt von Figura, Bernhard Schmidt

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2009

Language:

english

File:

PDF, 672 KB

english, 2009

48

1.3 Å Structure of Arylsulfatase from Pseudomonas aeruginosa Establishes the Catalytic Mechanism of Sulfate Ester Cleavage in the Sulfatase Family

Imke Boltes, Honorata Czapinska, Antje Kahnert, Rixa von Bülow, Thomas Dierks, Bernhard Schmidt, Kurt von Figura, Michael A. Kertesz, Isabel Usón

Journal:

Year:

2001

Language:

english

File:

PDF, 353 KB

english, 2001

49

Differential involvement of the extracellular 6-O-endosulfatases Sulf1 and Sulf2 in brain development and neuronal and behavioural plasticity

Ina Kalus, Benedikt Salmen, Christoph Viebahn, Kurt von Figura, Dietmar Schmitz, Rudi D'Hooge, Thomas Dierks

Journal:

Journal of Cellular and Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 1.07 MB

english, 2009

50

Structure–function relationship for lysosomal enzymes

Kurt Von Figura

Journal:

Acta Paediatrica

Year:

2007

Language:

english

File:

PDF, 168 KB

english, 2007

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