A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesisThe disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblastsDeficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgA general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.Phosphorylation of the AP2 mu subunit by AAK1 mediates high affinity binding to membrane protein sorting signalsHeparan sulfate 6-O-endosulfatases: discrete in vivo activities and functional co-operativityDefective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophyLocating the anomalous scatterer substructures in halide and sulfur phasingLIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in miceStructural requirements for interactions between leucine-sorting signals and clathrin-associated adaptor protein complex AP3The tyrosine motifs of Lamp 1 and LAP determine their direct and indirect targetting to lysosomesMolecular characterization of the hypothetical 66.3-kDa protein in mouse: lysosomal targeting, glycosylation, processing and tissue distributionInvolvement of cathepsin E in exogenous antigen processing in primary cultured murine microgliaMultiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzymeThe human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotesIdentification of formylglycine in sulfatases by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.Molecular characterization of the human Calpha-formylglycine-generating enzyme.Identification of novel lysosomal matrix proteins by proteome analysis.Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study.Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme.Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.Thyroid functions of mouse cathepsins B, K, and L.Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethalityMolecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).The non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum.Paralog of the formylglycine-generating enzyme--retention in the endoplasmic reticulum by canonical and noncanonical signals.Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation.Granzyme-mediated cytotoxicity does not involve the mannose 6-phosphate receptors on target cells.Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts.
P50
Q24299581-95D1878C-AE4B-4BA7-8355-4B3A2C338390Q24307875-98C2E3AC-85EB-40D7-B871-347BE6927149Q24534224-BDAF44A2-BF66-49AA-8AD5-D9062484C876Q24534595-463D006E-1118-44DB-BF21-0320AFA1363CQ24535911-7C17846A-FCDC-4DFD-ADC7-4C5245ED4D15Q24673363-89E58531-139A-4ECD-A178-81EACE581FD8Q24673740-3E5077B4-7763-4FAD-8994-3AA8893F194EQ27637145-0BF5B606-845E-401F-8035-CFD99F5BD7EFQ27640222-CF0D39F7-5F9E-4D3F-A09C-36900D9E659AQ28181137-25ABD94F-A20E-46BF-8F9D-C69F0C57F487Q28205970-A7B85D99-2B9D-408F-8744-7C4F6D6D6E29Q28216032-B0416FE5-9D8E-4FC4-ABC3-C77305371293Q28508163-D084C2C1-45E6-419B-BE80-BA3447597F3EQ28589163-334CF57C-6D0E-4BBA-90CC-62747FE72DC2Q28646260-814AF0EC-6EBE-499E-9AA4-15470D500836Q28646269-54FC1144-F503-4F21-9F1B-43DE59FD1D9CQ31125735-449F0C2F-2761-47B3-93E5-C44D30B0FEF8Q33210995-27FD7E06-5724-41F1-BF16-0EA02F64C7C3Q33222882-79E30EDD-3455-4F24-A5B5-0C54979C27EBQ34335172-D492393D-C2A1-4233-BC26-2607295FCAF0Q34390321-CBC2CEB8-BF54-4E6F-94F0-0555BE12CE37Q34393884-013F9103-79AE-4012-81D3-17D5F32AC314Q34420267-CF75B3AA-C532-48AD-B014-6B5BB96B922AQ34789899-4A01C3C1-BC74-4E78-B90D-E1B7D1D36606Q35019251-91CC7FD4-3D3E-41DB-9BDB-34FD6401E34DQ35070998-4A3D4468-E793-4883-80E9-149B022BAEF5Q37362460-2CCDEE45-543A-4A26-AB1E-421C9599AFCFQ38702180-365019AD-8350-4EFD-8243-1E89FCA758E1Q40008271-A75A9DC6-002A-40F7-816C-5F4B3EB7D3F8Q40014323-2942AFB2-9386-40AC-9468-2FAE1C487818Q40141054-818362A5-5930-4934-A15F-3E866D80B5D8Q40370180-A228D608-D910-4720-B69B-8E110E0B9B21Q40585557-777324D9-EF04-433D-8910-073F32337C24Q41079336-9785E47C-248A-45C6-837B-CDDD53BC0AF3
P50
description
Duits biochemicus
@nl
German physician
@en
German physician
@en-ca
German physician
@en-gb
Saksamaa arst
@et
bioquímicu alemán
@ast
deutscher Biochemiker, Molekularbiologe
@de
dochtúir Gearmánach
@ga
medic german
@ro
medico tedesco
@it
name
Kurt von Figura
@ast
Kurt von Figura
@ca
Kurt von Figura
@de
Kurt von Figura
@en
Kurt von Figura
@en-gb
Kurt von Figura
@es
Kurt von Figura
@fr
Kurt von Figura
@nl
Kurt von Figura
@ro
Kurt von Figura
@sl
type
label
Kurt von Figura
@ast
Kurt von Figura
@ca
Kurt von Figura
@de
Kurt von Figura
@en
Kurt von Figura
@en-gb
Kurt von Figura
@es
Kurt von Figura
@fr
Kurt von Figura
@nl
Kurt von Figura
@ro
Kurt von Figura
@sl
prefLabel
Kurt von Figura
@ast
Kurt von Figura
@ca
Kurt von Figura
@de
Kurt von Figura
@en
Kurt von Figura
@en-gb
Kurt von Figura
@es
Kurt von Figura
@fr
Kurt von Figura
@nl
Kurt von Figura
@ro
Kurt von Figura
@sl
P1006
P1015
P214
P227
P1006
P1015
P106
P19
P21
P213
0000 0000 0699 6911
P214
P227
P31
P512
P569
1944-05-16T00:00:00Z
P735
P7859
lccn-nr99027708