Stephan Storch

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Stephan Tiede, Stephan Storch, Torben Lübke et al. · Nature Medicine · 2005 · 209 citations · Full text

Signal Transduction, α/β Glcnac-1-phosphotransferase, Disease Mechanism +10

Defective Endoplasmic Reticulum-resident Membrane Protein CLN6 Affects Lysosomal Degradation of Endocytosed Arylsulfatase A

Claudia Heine, Bettina Koch, Stephan Storch et al. · Journal of Biological Chemistry · 2004 · 98 citations · Full text

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

Laura Brandenstein, Michaela Schweizer, Jan Sedlacik et al. · Human Molecular Genetics · 2015 · 84 citations · Full text

Mitophagy, Cln7/mfsd8 Gene, Cell Death +21

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease

Anne-Hélène Lebrun, Parisa Moll-Khosrawi, Sandra Pohl et al. · Molecular Medicine · 2011 · 62 citations · Full text

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, Sandra Pohl, Thomas Braulke · Journal of Biological Chemistry · 2004 · 61 citations · Full text

Genetics, Molecular Biology, Cytoskeleton +18