S. Storch

发表

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity.

Abdul Waheed, Jessica Schmiesing, Stephan Storch, 2018, Cell reports.

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII

W. Sly, T. Braulke, S. Storch, 2003, Human Genetics.

Multiple C-terminal Motifs of the 46-kDa Mannose 6-Phosphate Receptor Tail Contribute to Efficient Binding of Medium Chains of AP-2 and AP-3*

T. Braulke, S. Storch, 2001, The Journal of Biological Chemistry.

Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases

T. Braulke, S. Storch, S. Pohl, 2009, Biological chemistry.

Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.

T. Reinheckel, S. Storch, Joshua A Froemming, 2012, Biochimica et biophysica acta.

The CLN3 gene and protein: What we know

D. Kerkovich, A. Vainshtein, Gennaro Napolitano, 2019, Molecular genetics & genomic medicine.

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

J. Sedlacik, M. Schweizer, S. Storch, 2016, Human molecular genetics.

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

M. Schweizer, M. Damme, S. Storch, 2014, Neurobiology of Disease.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship

F. Rüschendorf, T. Braulke, K. Saar, 2008, Human mutation.

Multiple post-translational modifications of mouse insulin-like growth factor binding protein-6 expressed in epithelial Madin–Darby canine kidney cells

T. Braulke, S. Storch, J. Scharf, 2008, Molecular and Cellular Endocrinology.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Mark R. Marten, Erinna F. Lee, Dana L. Miller, 2021, Autophagy.

Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7.

C. Hagel, S. Storch, U. Bartsch, 2016, Investigative ophthalmology & visual science.

C‐Terminal Prenylation of the CLN3 Membrane Glycoprotein Is Required for Efficient Endosomal Sorting to Lysosomes

T. Braulke, S. Storch, S. Pohl, 2007, Traffic.

CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry

R. Witzgall, M. Reichold, I. Tegtmeier, 2022, iScience.

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

E. De Baere, R. De Rycke, F. Coppieters, 2019, Clinical genetics.

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

B. Henrissat, T. Braulke, S. Storch, 2005, Nature Medicine.

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

T. Streichert, T. Braulke, S. Storch, 2011, Molecular medicine.

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

S. Storch, Melanie Thelen, S. Mole, 2018, Human molecular genetics.

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.

A. Hasilik, T. Braulke, S. Storch, 2003, The Biochemical journal.

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6

T. Braulke, S. Storch, A. Lehesjoki, 2007, Molecular membrane biology.

Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses

S. Storch, U. Bartsch, 2022, Frontiers in Neurology.

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

Z. Lukacs, J. Ezaki, E. Kominami, 2004, Glycobiology.

Mannose phosphorylation in health and disease.

T. Braulke, S. Storch, B. Poorthuis, 2010, European journal of cell biology.

Molecular analysis of the GlcNac-1-phosphotransferase

T. Braulke, S. Storch, S. Pohl, 2008, Journal of Inherited Metabolic Disease.

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

Á. Almeida, J. Bolaños, D. Medina, 2022, Nature communications.

Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis

Á. Almeida, J. Bolaños, D. Medina, 2020, bioRxiv.

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*

T. Braulke, S. Storch, S. Pohl, 2004, Journal of Biological Chemistry.

Transport of the GlcNAc-1-phosphotransferase α/β-Subunit Precursor Protein to the Golgi Apparatus Requires a Combinatorial Sorting Motif*

T. Braulke, S. Storch, M. Franke, 2012, The Journal of Biological Chemistry.

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

B. Henrissat, T. Braulke, S. Storch, 2005, Nature medicine.

A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.

T. Stauber, S. Storch, I. Braren, 2019, Molecular genetics and metabolism.

Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system

G. Drewes, Dietmar Kuhl, S. Kins, 2021, Autophagy.

Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3

S. Storch, R. Bähring, Carolin Seifert, 2020, The Journal of Biological Chemistry.

Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

C. Hagel, S. Storch, U. Bartsch, 2019, Scientific Reports.

CLN7 mutation causes aberrant redistribution of protein isoforms and contributes to Batten disease pathobiology

J. Bolaños, T. McKay, A. Rahim, 2022, bioRxiv.

Increased expression of lysosomal acid phosphatase in CLN3‐defective cells and mouse brain tissue

T. Braulke, S. Storch, H. Mitchison, 2007, Journal of neurochemistry.

Lysosomal Targeting of the CLN7 Membrane Glycoprotein and Transport Via the Plasma Membrane Require a Dileucine Motif

T. Braulke, S. Storch, Pieter Steenhuis, 2010, Traffic.

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

S. Storch, U. Bartsch, A. Kohlschütter, 2019, CNS Drugs.

Transport of Lysosomal Enzymes

T. Braulke, S. Storch, 2005 .

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

T. Braulke, S. Storch, A. Kohlschütter, 2004, Journal of Biological Chemistry.

Communication Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enz ymatic activity

E. Kominami, T. Braulke, S. Storch, 2004 .

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

A. Ballabio, C. Grimm, L. Johannes, 2021, EMBO molecular medicine.

Transferrin binds insulin‐like growth factors and affects binding properties of insulin‐like growth factor binding protein‐3

T. Braulke, W. Blum, S. Storch, 2001, FEBS letters.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

T. Braulke, J. Hopwood, S. Storch, 2004, Human mutation.

Mannose phosphorylation in health and disease.

T. Braulke, S. Storch, B. Poorthuis, 2010, European journal of cell biology.