Michaela Schweizer Selected Research

Mucolipidoses (Sialidosis)

12/2021	Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
11/2020	Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
1/2018	Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
11/2017	Site-1 protease and lysosomal homeostasis.
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.
12/2013	Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
10/2013	Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.
7/2011	A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

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Michaela Schweizer Research Topics

Disease

9	Mucolipidoses (Sialidosis) 12/2021 - 07/2011
6	Neoplasms (Cancer) 09/2020 - 10/2004
6	Lysosomal Storage Diseases (Lysosomal Storage Disease) 12/2015 - 03/2005
5	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2019 - 03/2005
5	Alzheimer Disease (Alzheimer's Disease) 01/2018 - 04/2004
3	Infections 01/2022 - 07/2015
3	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2021 - 01/2015
3	Parkinson Disease (Parkinson's Disease) 01/2015 - 03/2013
2	COVID-19 01/2022 - 01/2022
2	Prion Diseases (Transmissible Spongiform Encephalopathies) 11/2021 - 01/2018
2	Amyloid Plaque 11/2021 - 04/2004
2	Neoplasm Metastasis (Metastasis) 09/2020 - 10/2005
2	Breast Neoplasms (Breast Cancer) 09/2020 - 09/2011
2	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2020 - 12/2018
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2016 - 12/2013
2	Inflammation (Inflammations) 07/2015 - 10/2014
2	Bone Resorption 12/2013 - 03/2005
2	Osteopetrosis 12/2009 - 03/2005
2	Deafness (Deaf Mutism) 05/2008 - 10/2003
2	Epilepsy (Aura) 01/2008 - 06/2007
1	Proteostasis Deficiencies 11/2021
1	Osteogenesis Imperfecta (Lobstein Disease) 11/2021
1	Hemorrhage 11/2021
1	Pulmonary Embolism 11/2021
1	Thrombosis (Thrombus) 11/2021
1	Heart Failure 01/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2021
1	Hypoxia (Hypoxemia) 10/2020
1	Spastic Paraplegia Type 4 01/2020
1	Hereditary Spastic Paraplegia 01/2020
1	Memory Disorders (Memory Loss) 01/2020
1	Nervous System Diseases (Neurological Disorders) 01/2016
1	Autoimmune Diseases (Autoimmune Disease) 01/2016
1	Gingival Hypertrophy 01/2016
1	Multiple Sclerosis 01/2016
1	Experimental Autoimmune Encephalomyelitis (Encephalomyelitis, Autoimmune Experimental) 01/2016
1	Mucopolysaccharidosis I (Hurler Syndrome) 12/2015
1	Muscular Diseases (Myopathy) 01/2015
1	Gaucher Disease (Gaucher's Disease) 10/2014
1	Neuroinflammatory Diseases 05/2014

Drug/Important Bio-Agent (IBA)

12	EnzymesIBA 11/2020 - 03/2005
11	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2004
4	Amyloid (Amyloid Fibrils)IBA 01/2017 - 04/2004
3	LigandsIBA 11/2021 - 10/2007
3	GlycosaminoglycansIBA 01/2020 - 12/2015
3	ProteomeIBA 01/2019 - 01/2017
3	Mannose (D-Mannose)IBA 01/2017 - 07/2011
3	HydrolasesIBA 01/2017 - 10/2013
3	Chloride Channels (Chloride Channel)IBA 12/2009 - 03/2005
2	Complementary DNA (cDNA)IBA 01/2022 - 10/2007
2	PrionsIBA 11/2021 - 01/2018
2	LipidsIBA 10/2020 - 10/2014
2	TubulinIBA 09/2020 - 01/2020
2	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2020 - 12/2018
2	KinesinsIBA 01/2020 - 01/2016
2	Metalloproteases (Metalloproteinases)IBA 01/2016 - 08/2013
2	DisintegrinsIBA 01/2016 - 08/2013
2	Protein Isoforms (Isoforms)IBA 07/2015 - 01/2015
2	lysosomal proteinsIBA 12/2013 - 09/2006
2	Peptides (Polypeptides)IBA 08/2013 - 04/2004
2	Biological ProductsIBA 09/2011 - 04/2004
1	omega-Chloroacetophenone (Mace)IBA 01/2022
1	InterferonsIBA 01/2022
1	RNA (Ribonucleic Acid)IBA 01/2022
1	mutalipocin IIIBA 12/2021
1	Prion ProteinsIBA 11/2021
1	PolyphosphatesIBA 11/2021
1	Factor XII (Hageman Factor)IBA 11/2021
1	Phosphates (Orthophosphate)IBA 11/2021
1	Xenotropic and Polytropic Retrovirus ReceptorIBA 11/2021
1	Pyruvic Acid (Pyruvate)IBA 01/2021
1	Glutamine (L-Glutamine)FDA Link 01/2021
1	phospholambanIBA 01/2021
1	Glucose (Dextrose)FDA LinkGeneric 10/2020
1	Contractile ProteinsIBA 10/2020
1	PPAR gammaIBA 10/2020
1	tyrosyltubulin ligaseIBA 09/2020
1	SpastinIBA 01/2020
1	Lysosomal Membrane ProteinsIBA 01/2019
1	Phospholipases (Phospholipase)IBA 01/2018
1	palmitoyl-protein thioesteraseIBA 01/2017
1	AcidsIBA 01/2017
1	Amyloid Precursor Protein Secretases (beta-Secretase)IBA 01/2016
1	Peptide Hydrolases (Proteases)FDA Link 01/2016
1	CollagenIBA 01/2016
1	Iduronidase (alpha-L-Iduronidase)IBA 12/2015
1	Lysergic Acid Diethylamide (LSD)IBA 12/2015
1	Peptide Initiation Factors (Initiation Factor)IBA 07/2015
1	hypusineIBA 07/2015
1	deoxyhypusine synthaseIBA 07/2015
1	deoxyhypusine hydroxylaseIBA 07/2015
1	eIF-5A2IBA 07/2015
1	GlycogenIBA 01/2015
1	SynucleinsIBA 10/2014
1	Glucosylceramidase (Glucocerebrosidase)IBA 10/2014
1	Membrane Proteins (Integral Membrane Proteins)IBA 05/2014

Therapy/Procedure

4	Therapeutics 09/2020 - 01/2008
1	Transplantation 01/2016
1	Cell- and Tissue-Based Therapy (Cell Therapy) 01/2016