Stephan Storch Selected Research

lipopigments

1/2020	Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
5/2014	Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.

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Stephan Storch Research Topics

Disease

18	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2022 - 01/2003
6	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2022 - 06/2004
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 04/2007
4	Mucolipidoses (Sialidosis) 01/2013 - 10/2005
3	Retinal Degeneration 01/2022 - 09/2016
3	Neuroinflammatory Diseases 10/2021 - 05/2014
2	Atrophy 01/2020 - 01/2003
2	Starvation 01/2019 - 01/2018
1	Alzheimer Disease (Alzheimer's Disease) 01/2022
1	Protein Deficiency 01/2022
1	Retinal Dystrophies 01/2022
1	Gliosis 10/2019
1	Disease Progression 01/2011
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 06/2004
1	Mucopolysaccharidoses 06/2004
1	Cognitive Dysfunction 05/2004
1	Blindness (Hysterical Blindness) 05/2004
1	Mucopolysaccharidosis VII (Sly Syndrome) 02/2003

Drug/Important Bio-Agent (IBA)

8	Lysosomal Membrane ProteinsIBA 01/2020 - 04/2007
7	Proteins (Proteins, Gene)FDA Link 01/2022 - 12/2004
6	EnzymesIBA 01/2022 - 01/2003
3	Pharmaceutical PreparationsIBA 10/2021 - 01/2019
3	Membrane Proteins (Integral Membrane Proteins)IBA 05/2014 - 05/2004
2	Retinaldehyde (Retinal)IBA 01/2022 - 10/2019
2	lipopigmentsIBA 01/2020 - 05/2014
2	lysosomal proteinsIBA 10/2019 - 01/2018
2	CeroidIBA 05/2014 - 12/2004
2	Biomarkers (Surrogate Marker)IBA 01/2011 - 12/2007
1	Green Fluorescent ProteinsIBA 01/2022
1	Adenosine Triphosphate (ATP)IBA 01/2022
1	Amyloid (Amyloid Fibrils)IBA 01/2022
1	Coloring Agents (Dyes)IBA 01/2022
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2022
1	Bovine Serum AlbuminIBA 01/2022
1	Transferrin (beta 2 Transferrin)IBA 01/2022
1	Amyloid beta-PeptidesIBA 01/2022
1	PresenilinsIBA 01/2022
1	Amyloid Precursor Protein Secretases (beta-Secretase)IBA 01/2022
1	Tamoxifen FDA LinkGeneric 10/2021
1	Biological ProductsIBA 12/2019
1	palmitoyl-protein thioesteraseIBA 10/2019
1	cerliponase alfaIBA 01/2019
1	Proto-Oncogene Proteins c-akt (Protein Kinase B)IBA 01/2019
1	Immunosuppressive Agents (Immunosuppressants)IBA 01/2019
1	TOR Serine-Threonine KinasesIBA 01/2018
1	site 1 membrane-bound transcription factor peptidaseIBA 01/2013
1	Amino Acids FDA Link 01/2013
1	Lysine (L-Lysine)FDA Link 01/2013
1	HydrolasesIBA 01/2010
1	Mannose (D-Mannose)IBA 10/2005
1	mutalipocin IIIBA 10/2005
1	Acidic Amino AcidsIBA 12/2004
1	N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA 06/2004
1	Heparitin Sulfate (Heparan Sulfate)IBA 06/2004
1	Tripeptidyl-Peptidase 1IBA 04/2004
1	Chondroitin Sulfates (Chondroitin Sulfate)IBA 02/2003
1	GlucuronidaseIBA 02/2003
1	Peptide Hydrolases (Proteases)FDA Link 01/2003
1	Aspartic Acid (Aspartate)FDA Link 01/2003
1	Cathepsin DIBA 01/2003
1	AsparagineIBA 01/2003

Therapy/Procedure

2	Therapeutics 01/2022 - 01/2019