Kurt von Figura Selected Research

Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)

4/2009	Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
1/2008	Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
1/2006	A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
5/2005	Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
4/2005	Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.
10/2003	The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
5/2003	Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.

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Kurt von Figura Research Topics

Disease

7	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 04/2009 - 05/2003
4	Lysosomal Storage Diseases (Lysosomal Storage Disease) 04/2009 - 10/2003
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 04/2007 - 03/2002
2	Congenital Disorders of Glycosylation 08/2006 - 06/2003
2	alpha-Mannosidosis 07/2005 - 09/2004
1	Mucolipidoses (Sialidosis) 04/2009
1	Infections 04/2007
1	Leukocytosis (Pleocytosis) 04/2007
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2005
1	Body Weight (Weight, Body) 09/2004
1	Starvation 07/2004
1	Hydrops Fetalis (Fetal Edema) 03/2004
1	Congenital disorder of glycosylation type 1K 03/2004
1	Intellectual Disability (Idiocy) 06/2003
1	Coloboma (Colobomas) 06/2003
1	Seizures (Absence Seizure) 06/2003
1	Congenital disorder of glycosylation type II 06/2003
1	Hepatomegaly 06/2003
1	Congenital disorder of glycosylation type 1G 10/2002
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 03/2002
1	Hydrocephalus (Hydrocephaly) 03/2002
1	Muscular Diseases (Myopathy) 03/2002
1	Type IIID Congenital Disorder Of Glycosylation 03/2002

Drug/Important Bio-Agent (IBA)

8	EnzymesIBA 04/2009 - 03/2002
3	MannosyltransferasesIBA 03/2004 - 10/2002
2	AcetylglucosamineIBA 04/2009 - 03/2002
2	N-formylglycineIBA 01/2008 - 05/2005
2	SulfatasesIBA 01/2006 - 04/2005
2	alpha-Mannosidase (LAMAN)IBA 07/2005 - 09/2004
2	OligosaccharidesIBA 09/2004 - 06/2003
2	Mannose (D-Mannose)IBA 09/2004 - 10/2002
2	N,N-diacetylchitobioseIBA 03/2004 - 10/2002
2	Guanosine Diphosphate (GDP)IBA 03/2004 - 06/2003
2	DolicholsIBA 03/2004 - 06/2003
2	C(alpha)-formylglycineIBA 10/2003 - 05/2003
1	mutalipocin IIIBA 04/2009
1	lysosomal proteinsIBA 04/2009
1	Glycoproteins (Glycoprotein)IBA 04/2007
1	Guanosine Diphosphate Fucose (GDP Fucose)IBA 04/2007
1	phosphomannomutaseIBA 08/2006
1	mannose-6-phosphateIBA 08/2006
1	EstersIBA 01/2006
1	Sulfates (Sulfates, Inorganic)IBA 01/2006
1	CholesterolIBA 12/2005
1	LipidsIBA 12/2005
1	Cathepsin DIBA 08/2005
1	AcidsIBA 09/2004
1	Proteins (Proteins, Gene)FDA Link 07/2004
1	Amino Acids FDA Link 07/2004
1	mannopyranosyl- (1- 4)- 2- acetamido- 2- deoxyglucopyranosyl- (1- 4)- 2- acetamido- 2- deoxyglucopyranoseIBA 06/2003
1	dolichol monophosphate (dolichyl phosphate)IBA 10/2002
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 03/2002
1	Uridine Diphosphate Galactose (UDP Galactose)IBA 03/2002
1	Uridine Diphosphate (UDP)IBA 03/2002
1	beta-1,4-galactosyltransferase IIBA 03/2002

Therapy/Procedure

1	Intravenous Administration 09/2004
1	Enzyme Replacement Therapy 09/2004