Thomas Braulke

Summary

Affiliation: University of Hamburg
Country: Germany

Publications

  1. doi request reprint Sorting of lysosomal proteins
    Thomas Braulke
    University Medical Center Hamburg Eppendorf, Department Biochemistry, Children s Hospital Research campus, Martinistr 52, 20246, Hamburg, Germany
    Biochim Biophys Acta 1793:605-14. 2009
  2. pmc Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    J Biol Chem 285:23936-44. 2010
  3. pmc Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice
    K Kollmann
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    Brain 135:2661-75. 2012
  4. doi request reprint Molecular analysis of the GlcNac-1-phosphotransferase
    T Braulke
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Inherit Metab Dis 31:253-7. 2008
  5. pmc Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease
    Anne Hélène Lebrun
    Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Mol Med 17:1253-61. 2011
  6. doi request reprint Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
    Nicole Muschol
    Department of Paediatrics, University Medical Center Hamburg Eppendorf, Germany
    Am J Med Genet A 155:1634-9. 2011
  7. doi request reprint A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism
    Katrin Marschner
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Science 333:87-90. 2011
  8. doi request reprint Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis
    Sabrina Jabs
    University Medical Center Hamburg Eppendorf, Children s Hospital Biochemistry, Hamburg, Germany
    J Neurochem 106:1415-25. 2008
  9. doi request reprint The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
    Ann Meyer
    Metabolic Center, Dept of Paediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 29:770. 2008
  10. doi request reprint Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
    Britta Keyser
    Children s Hospital, Department of Biochemistry, University Medical Center Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Biochim Biophys Acta 1782:385-90. 2008

Collaborators

Detail Information

Publications51

  1. doi request reprint Sorting of lysosomal proteins
    Thomas Braulke
    University Medical Center Hamburg Eppendorf, Department Biochemistry, Children s Hospital Research campus, Martinistr 52, 20246, Hamburg, Germany
    Biochim Biophys Acta 1793:605-14. 2009
    ..The complex interaction of both luminal and cytosolic signals with recognition proteins guarantees the specific and directed transport of proteins to lysosomes...
  2. pmc Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    J Biol Chem 285:23936-44. 2010
    ..These findings demonstrate that proteolytic processing of the gamma-subunit represents a novel mechanism to regulate GlcNAc-1-phosphotransferase activity and the subsequent sorting of lysosomal enzymes...
  3. pmc Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice
    K Kollmann
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    Brain 135:2661-75. 2012
    ..These lysosomal proteins might be a potential target for a valid therapeutic approach for mucolipidosis II disease...
  4. doi request reprint Molecular analysis of the GlcNac-1-phosphotransferase
    T Braulke
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Inherit Metab Dis 31:253-7. 2008
    ..The role of the gamma-subunits for activity, stability and oligomerization of the GlcNac-1-phosphotransferase subunits is still unclear...
  5. pmc Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease
    Anne Hélène Lebrun
    Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Mol Med 17:1253-61. 2011
    ....
  6. doi request reprint Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
    Nicole Muschol
    Department of Paediatrics, University Medical Center Hamburg Eppendorf, Germany
    Am J Med Genet A 155:1634-9. 2011
    ....
  7. doi request reprint A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism
    Katrin Marschner
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Science 333:87-90. 2011
    ..Thus, S1P functions in the biogenesis of lysosomes, and lipid-independent phenotypes of S1P deficiency may be caused by lysosomal dysfunction...
  8. doi request reprint Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis
    Sabrina Jabs
    University Medical Center Hamburg Eppendorf, Children s Hospital Biochemistry, Hamburg, Germany
    J Neurochem 106:1415-25. 2008
    ....
  9. doi request reprint The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
    Ann Meyer
    Metabolic Center, Dept of Paediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 29:770. 2008
    ..These data suggest that in MPS IIIA patients carrying the mutation p.Ser298Pro a slowly progressive phenotype can be predicted and this may have an important impact on parental counselling and therapeutic interventions...
  10. doi request reprint Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
    Britta Keyser
    Children s Hospital, Department of Biochemistry, University Medical Center Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Biochim Biophys Acta 1782:385-90. 2008
    ..The data demonstrate that under conditions mimicking encephalopathic crises the blood-brain barrier appears to remain intact...
  11. doi request reprint Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif
    Pieter Steenhuis
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Martinistr 52, D 20246 Hamburg, Germany
    Traffic 11:987-1000. 2010
    ....
  12. pmc Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5
    Georgia Makrypidi
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Mol Cell Biol 32:774-82. 2012
    ..The data demonstrate that dephosphorylation of Man6P-containing lysosomal proteins requires the concerted action of Acp2 and Acp5 and is needed for hydrolysis and removal of degradation products...
  13. pmc Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis
    Melanie Thelen
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    PLoS ONE 7:e35493. 2012
    ..These data suggest that proteasomal degradation of mutant Cln6 is sufficient to prevent the accumulation of misfolded Cln6 protein, whereas lysosomal dysfunction impairs constitutive autophagy promoting neurodegeneration...
  14. doi request reprint Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf Martinistrasse 52, Building N27, 20246 Hamburg, Germany
    Biochim Biophys Acta 1792:221-5. 2009
    ..The data suggest that the gamma-subunit is important for the balance of phosphotransferase subunits rather for general binding of lysosomal enzymes...
  15. ncbi request reprint A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting
    Stephan Storch
    Department of Biochemistry, Children s Hospital, University of Hamburg, D 20246 Hamburg, Germany
    J Biol Chem 279:53625-34. 2004
    ....
  16. doi request reprint Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6
    Anna Katherina Kurze
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 31:E1163-74. 2010
    ..Both degradative pathways seem to be sufficient to prevent the accumulation/aggregation of the mutant CLN6 polypeptides in the endoplasmic reticulum...
  17. doi request reprint Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice
    Michaela Schweizer
    Department of Electron Microscopy, Center for Molecular Neurobiology, University Medical Center Hamburg Eppendorf, Hamburg, Germany and
    Ultrastruct Pathol 37:366-72. 2013
    ....
  18. pmc Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif
    Mine Franke
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    J Biol Chem 288:1238-49. 2013
    ..The data suggest that the oligomeric type III membrane protein PT complex requires a combinatorial sorting motif that forms a tertiary epitope to be recognized by distinct sites within the coat protein complex II machinery...
  19. ncbi request reprint Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg, Hamburg, Germany
    J Neurochem 103:2177-88. 2007
    ..The data suggest that lysosomal dysfunction and accumulation of storage material require increased biogenesis of LAP/ACP2 and LAMP-2 positive membranes which makes LAP/ACP2 suitable as biomarker of Batten disease...
  20. pmc Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells
    Jessica Lamp
    Children s Hospital, Department of Biochemistry, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    J Biol Chem 286:17777-84. 2011
    ..These results suggest that elevated levels of GA and 3OHGA may lead to neuronal injury and cell death via disruption of TCA cycle activity...
  21. ncbi request reprint Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype
    Stephan Tiede
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Am J Med Genet A 137:235-40. 2005
    ..The data indicate that defects in genes other than GNPTAG can be linked to ML III contributing to the variability of the phenotype...
  22. ncbi request reprint Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG
    Stephan Tiede
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 27:830-1. 2006
    ..The data demonstrate that defective GNPTA not only impairs lysosomal enzyme targeting but also the availability of intact GNPTG required for phosphotransferase activity and assembly of subunits...
  23. doi request reprint Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)
    Britta Keyser
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    Hum Mol Genet 17:3854-63. 2008
    ..These results indicate that reduced intramitochondrial stability as well as the impaired formation of homo- and heteromeric GCDH complexes can underlie GA1...
  24. doi request reprint Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1
    Bastian Thies
    Department of Biochemistry, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Biochim Biophys Acta 1832:1463-72. 2013
    ..Further studies are needed to investigate if these findings can be confirmed in humans, especially in the long-term outcome of affected patients. ..
  25. pmc The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module
    Vanessa A van Rahden
    Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Hum Mol Genet 21:5019-38. 2012
    ..Our data suggest that PI(4,5)P(2) dephosphorylation through OCRL regulates a Rac1-cofilin signalling cascade implicated in MPR trafficking from endosomes to the TGN...
  26. pmc Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase
    Marisa Encarnação
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    J Biol Chem 286:5311-8. 2011
    ..The data provide evidence that assembly of the GlcNAc-1-phosphotransferase complex takes place in the ER and requires dimerization of the γ-subunits...
  27. ncbi request reprint Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6
    Claudia Heine
    Department of Biochemistry, University Hospital Hamburg Eppendorf, Children s Hospital, Hamburg, Germany
    Mol Membr Biol 24:74-87. 2007
    ..Additionally, the ability of CLN6 to homodimerize may also prevent exit from the ER via an interaction with membrane-associated factors...
  28. pmc A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice
    Sven Muller-Loennies
    University Medical Center Hamburg Eppendorf, Department of Biochemistry, Children s Hospital, Martinistr 52, Bld N27, 20246 Hamburg, Germany
    Am J Pathol 177:240-7. 2010
    ..Thus, the single-chain antibody fragment against Man6P was demonstrated to allow the specific, rapid, and convenient detection of Man6P-containing proteins and facilitates the diagnosis of ML II and ML III...
  29. doi request reprint High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons
    Melanie Thelen
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Neurosci Res 90:568-74. 2012
    ..These findings implicate Cln6 in the survival and maturation of specific neuronal populations during development and make it possible to compare regional Cln6 expression with the distribution of subsequent pathology...
  30. ncbi request reprint Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase
    Stephan Tiede
    Department of Biochemistry, Children s Hospital, University of Hamburg, Martinistr 52, 20246 Hamburg, Germany
    Nat Med 11:1109-12. 2005
    ..Our results provide evidence that GNPTA encodes a subunit of GlcNAc-1-phosphotransferase defective in individuals with ML II...
  31. doi request reprint Mannose phosphorylation in health and disease
    Katrin Kollmann
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Research Campus, Martinistrasse 52, 20246 Hamburg, Germany
    Eur J Cell Biol 89:117-23. 2010
    ....
  32. ncbi request reprint Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, D 20246 Hamburg, Germany
    Biol Chem 390:521-7. 2009
    ....
  33. pmc Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
    Katrin Kollmann
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    EMBO Mol Med 5:1871-86. 2013
    ..They further underscore the importance of a deep skeletal phenotyping approach for other lysosomal diseases in which bone loss is a prominent feature. ..
  34. ncbi request reprint Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
    Ann Meyer
    University Medical Center Hamburg Eppendorf, Metabolic Center, Department of Pediatrics, Martinistrasse 52, Building N23, 20246 Hamburg, Germany
    Pediatrics 120:e1255-61. 2007
    ..The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients...
  35. doi request reprint Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis
    Udo Bartsch
    Department of Ophthalmology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Invest Ophthalmol Vis Sci 54:6952-9. 2013
    ..Here, we analyzed the time course of photoreceptor loss and the role of lysosomes in nclf mice, an animal model of the human CLN6 disease...
  36. ncbi request reprint A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site
    Stephan Tiede
    Department of Biochemistry, Children s Hospital, Hamburg, Germany
    Hum Mutat 24:535. 2004
    ..These data suggest that the loss of the used glycosylation site in the gamma subunit may affect the intracellular localization of GNPTAG and the overall efficiency of M6P formation...
  37. doi request reprint Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics
    Sandra Pohl
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Am J Med Genet A 152:124-32. 2010
    ..These data contribute to an efficient diagnostic strategy to identify Patients with MLIII gamma and characterize their biochemical defect in fibroblasts...
  38. doi request reprint Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship
    Anne Hélène Lebrun
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 30:E651-61. 2009
    ..Double immunofluorescence microscopy showed that while the wild-type CLN5 protein is localized in lysosomes, both mutant CLN5 proteins are retained in the endoplasmic reticulum rather than reaching the lysosome...
  39. ncbi request reprint Interaction of insulin-like growth factor II (IGF-II) with multiple plasma proteins: high affinity binding of plasminogen to IGF-II and IGF-binding protein-3
    Sandra Oesterreicher
    University Hospital Hamburg Eppendorf, Children s Hospital, Department of Biochemistry, Martinistrasse 52, D 20246 Hamburg, Germany
    J Biol Chem 280:9994-10000. 2005
    ....
  40. ncbi request reprint Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A
    Nicole Muschol
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 23:559-66. 2004
    ..Gly191Arg), c.1297C>T (p.Arg433Trp), c.1026dupC (p.Leu343fsX158), and c.1135delG (p.Val379fsX33) mutant proteins probably occurs in the ER, whereas c.488T>C (p.Leu163Pro) mutant protein showed instability in the lysosomes...
  41. ncbi request reprint Mutational analysis in longest known survivor of mucopolysaccharidosis type VII
    Stephan Storch
    UKE University Hospital, Children s Hospital, University of Hamburg, Martinistrasse 52, Haus W23, 20246 Hamburg, Germany
    Hum Genet 112:190-4. 2003
    ..We attribute the mild phenotype to the residual catalytic activity provided by the K350N mutant. At the time of her death at the age of 37 years, this patient was the longest known survivor with MPS VII...
  42. pmc Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
    Jessica Schmiesing
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    PLoS ONE 9:e87715. 2014
    ....
  43. doi request reprint Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
    Katrin Kollmann
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Biochim Biophys Acta 1832:1866-81. 2013
    ..This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease. ..
  44. ncbi request reprint C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes
    Stephan Storch
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg, Martinistr 52, Bldg W 23, 20246 Hamburg, Germany
    Traffic 8:431-44. 2007
    ..The data suggest that co-operative signal structures in different cytoplasmic domains of CLN3 are required for efficient sorting and for transport to the lysosome...
  45. pmc N-glycans and glycosylphosphatidylinositol-anchor act on polarized sorting of mouse PrP(C) in Madin-Darby canine kidney cells
    Berta Puig
    Institute of Neuropathology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    PLoS ONE 6:e24624. 2011
    ..Exchange of the PrP(C) GPI-anchor for the one of Thy-1 redirects PrP(C) to the apical membrane. In conclusion, both N-glycosylation and GPI-anchor act on polarized sorting of PrP(C), with the GPI-anchor being dominant over N-glycans...
  46. ncbi request reprint Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB)
    Raffaella De Pace
    Section Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 35:368-76. 2014
    ..Ser399Phe found in MLIII alpha/beta. Our data provide new insights into structural requirements for localization and activity of GlcNAc-1-phosphotransferase that may help to explain the clinical phenotype of MLII patients. ..
  47. ncbi request reprint Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I
    Chris Mühlhausen
    Department of Pediatrics, University of Hamburg, Germany
    Pediatr Res 59:196-202. 2006
    ..These data may provide insight in the mechanisms of 3-OH-GA-induced vasculopathic processes and suggest N-methyl-D-aspartate receptor-dependent and -independent pathways in the pathogenesis of GA1...
  48. pmc A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells
    Sanna Partanen
    Children s Hospital Biochemistry, University of Hamburg, Martinistr 52, D 20246 Hamburg, Germany
    Biochem J 369:55-62. 2003
    ..These data suggest that the mutation may result in a conformational change which affects stability, processing and transport of the enzyme...
  49. ncbi request reprint Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A
    Claudia Heine
    Department of Biochemistry, Children s Hospital, University of Hamburg, D 20246 Hamburg, Germany
    J Biol Chem 279:22347-52. 2004
    ..These data suggest that defects in the ER-resident CLN6 protein lead to lysosomal dysfunctions, which may result in lysosomal accumulation of storage material...
  50. ncbi request reprint 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3
    Franziska Stellmer
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany
    J Mol Med (Berl) 85:763-70. 2007
    ..The data demonstrate for the first time the membrane translocation of 3OH-GA mediated by NaDC3 and the cis-inhibitory effect on OCT2-mediated transport of cations...
  51. ncbi request reprint Isolation and characterization of circulating fragments of the insulin-like growth factor binding protein-3
    Bernd Kubler
    Children s Hospital Biochemistry, University of Hamburg, Martinistr 52, D 20246, Hamburg, Germany
    FEBS Lett 518:124-8. 2002
    ..The data indicate that proteolysis of circulating IGFBP-3 occurs in the variable domain at residues alanine 98, phenylalanine 138, glutamine 157, and tyrosine 159...