Thomas Braulke Selected Research

Mannose (D-Mannose)

1/2020	Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
1/2017	Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II.
1/2016	Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development.
10/2014	Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.
7/2011	A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.
7/2010	A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.
1/2010	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.
10/2005	Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
9/2005	Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

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Thomas Braulke Research Topics

Disease

22	Mucolipidoses (Sialidosis) 12/2021 - 09/2005
16	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 10/2021 - 01/2003
11	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2017 - 12/2002
5	Neurodegenerative Diseases (Neurodegenerative Disease) 05/2011 - 10/2006
4	Mucopolysaccharidosis III (Sanfilippo Syndrome) 07/2011 - 06/2004
2	Neuroinflammatory Diseases 10/2021 - 11/2013
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2016 - 12/2013
2	Retinal Degeneration 01/2015 - 10/2013
2	Intellectual Disability (Idiocy) 12/2012 - 06/2003
2	Disease Progression 07/2011 - 01/2011
2	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 02/2010 - 01/2009
2	Mucopolysaccharidoses 11/2007 - 06/2004
1	Human Influenza (Influenza) 01/2019
1	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 12/2018
1	Gingival Hypertrophy 01/2016
1	Mucopolysaccharidosis I (Hurler Syndrome) 12/2015
1	Starvation 08/2015
1	neuronal 5 Ceroid lipofuscinosis 01/2015
1	Fibrosarcoma 10/2014
1	Glutaric Acidemia I 04/2014
1	Bone Resorption 12/2013
1	Congenital disorder of glycosylation type 1L 03/2013
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 03/2013
1	Oculocerebrorenal Syndrome (Lowe Syndrome) 12/2012
1	Cataract (Cataracts) 12/2012
1	Prion Diseases (Transmissible Spongiform Encephalopathies) 01/2011
1	Malaria 06/2010
1	Dementia (Dementias) 04/2009
1	Osteosarcoma (Osteogenic Sarcoma) 09/2007
1	Hemorrhage 02/2006
1	Acute Kidney Injury (Acute Renal Failure) 12/2004
1	Resistance To Insulin-Like Growth Factor I 10/2004
1	Cognitive Dysfunction 05/2004
1	Blindness (Hysterical Blindness) 05/2004
1	Mitochondrial Diseases (Mitochondrial Disease) 12/2003

Drug/Important Bio-Agent (IBA)

18	EnzymesIBA 01/2020 - 12/2002
12	Proteins (Proteins, Gene)FDA Link 01/2017 - 12/2004
9	Mannose (D-Mannose)IBA 01/2020 - 09/2005
7	mutalipocin IIIBA 12/2021 - 10/2005
4	Lysosomal Membrane ProteinsIBA 01/2019 - 04/2007
4	HydrolasesIBA 01/2017 - 01/2010
4	lipopigmentsIBA 11/2013 - 10/2006
4	CeroidIBA 11/2013 - 12/2004
4	UDP- N- acetylglucosamine- lysosomal- enzyme- N- acetylglucosaminephosphotransferaseIBA 07/2011 - 09/2005
3	ProteomeIBA 01/2019 - 01/2017
3	Polysaccharides (Glycans)IBA 01/2019 - 03/2013
3	GlycosaminoglycansIBA 12/2018 - 05/2008
3	Cathepsin DIBA 08/2015 - 01/2003
3	N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA 07/2011 - 06/2004
3	Membrane Proteins (Integral Membrane Proteins)IBA 02/2010 - 05/2004
3	Heparitin Sulfate (Heparan Sulfate)IBA 05/2008 - 06/2004
2	Lysergic Acid Diethylamide (LSD)IBA 12/2015 - 01/2015
2	glutaric acidIBA 04/2014 - 05/2011
2	lysosomal proteinsIBA 12/2013 - 10/2013
2	Biomarkers (Surrogate Marker)IBA 01/2011 - 12/2007
2	Cerebroside-Sulfatase (Arylsulfatase A)IBA 02/2010 - 01/2009
2	Phosphotransferases (Kinase)IBA 08/2006 - 09/2005
2	AcetylglucosamineIBA 08/2006 - 09/2005
1	Tamoxifen FDA LinkGeneric 10/2021
1	Pharmaceutical PreparationsIBA 10/2021
1	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 12/2018
1	AcidsIBA 01/2017
1	CollagenIBA 01/2016
1	Iduronidase (alpha-L-Iduronidase)IBA 12/2015
1	CholesterolIBA 08/2015
1	Ciliary Neurotrophic Factor (CNTF)IBA 01/2015
1	Nerve Growth Factors (Neurotrophins)IBA 01/2015
1	Neuroprotective AgentsIBA 01/2015
1	glutaryl-coenzyme A (glutaryl-CoA)IBA 04/2014
1	mannose-6-phosphateIBA 03/2014
1	CytokinesIBA 12/2013
1	Interleukin-6 (Interleukin 6)IBA 12/2013
1	Glial Fibrillary Acidic ProteinIBA 10/2013
1	Rhodopsin (Visual Purple)IBA 10/2013
1	Lysine (L-Lysine)FDA Link 01/2013
1	Amino Acids FDA Link 01/2013
1	site 1 membrane-bound transcription factor peptidaseIBA 01/2013
1	P-2 (P 2)IBA 12/2012
1	Phosphatidylinositols (Phosphatidylinositol)IBA 12/2012
1	3-hydroxyglutaric acidIBA 05/2011
1	Glutaryl-CoA DehydrogenaseIBA 05/2011
1	Prion ProteinsIBA 01/2011
1	Immunoglobulin FragmentsIBA 07/2010
1	Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA 06/2010
1	AntigensIBA 06/2010
1	glutaconic acid (glutaconate)IBA 10/2008
1	GlutaratesIBA 10/2008
1	bis(monoacylglyceryl)phosphateIBA 08/2008
1	GangliosidesIBA 08/2008
1	GlycosphingolipidsIBA 08/2008
1	Insulin-Like PeptidesIBA 09/2007
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 02/2006
1	Acidic Amino AcidsIBA 12/2004
1	Insulin-Like Growth Factor Binding ProteinsIBA 12/2004
1	Insulin-Like Growth Factor I (IGF-1)IBA 10/2004
1	Insulin-Like Growth Factor Binding Protein 3IBA 10/2004
1	IGF Type 1 Receptor (IGF 1 Receptor)IBA 10/2004
1	Tripeptidyl-Peptidase 1IBA 04/2004

Therapy/Procedure

2	Therapeutics 12/2015 - 07/2011
1	Plasmapheresis 12/2004