Publications by authors named "Stephan Storch"

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Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease.
Federica Valigi, Liana Uebler, Stephan Storch

Hum Mol Genet· June 2025

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CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry.
Elena-Sofia Heinl, Sebastian Lorenz, Barbara Schmidt, Nouf Nasser M Laqtom, Joseph R Mazzulli, Stephan Storch

iScience· October 2022

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Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
Marcel Klein, Abuzar Kaleem, Sandra Oetjen, Daniela Wünkhaus, Lars Binkle, Stephan Storch

Autophagy· September 2022

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Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses.
Udo Bartsch, Stephan Storch

Front Neurol· April 2022

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Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Stephan Storch

Nat Commun· January 2022

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Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Chiara Soldati, Irene Lopez-Fabuel, Luca G Wanderlingh, Marina Garcia-Macia, Jlenia Monfregola, Stephan Storch

EMBO Mol Med· October 2021

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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
Daniel J Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, Mahmoud Abdellatif, Asghar Abdoli, Stephan Storch

Autophagy· January 2021

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Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.
Carolin Seifert, Stephan Storch, Robert Bähring

J Biol Chem· August 2020

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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Riet De Rycke

Clin Genet· March 2020

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The CLN3 gene and protein: What we know.
Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J Haslett, Stephan Storch

Mol Genet Genomic Med· December 2019

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Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype.
Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch

Sci Rep· October 2019

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Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.
Alfried Kohlschütter, Angela Schulz, Udo Bartsch, Stephan Storch

CNS Drugs· April 2019

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A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.
Lisa von Kleist, Khandsuren Ariunbat, Ingke Braren, Tobias Stauber, Stephan Storch

Mol Genet Metab· February 2019

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Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity.
Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune

Cell Rep· September 2018

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Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch

Hum Mol Genet· May 2018

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Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7.
Wanda Jankowiak, Laura Brandenstein, Simon Dulz, Christian Hagel, Stephan Storch

Invest Ophthalmol Vis Sci· September 2016

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Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.
Laura Brandenstein, Michaela Schweizer, Jan Sedlacik, Jens Fiehler, Stephan Storch

Hum Mol Genet· February 2016

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Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.
Markus Damme, Laura Brandenstein, Susanne Fehr, Wanda Jankowiak, Udo Bartsch, Stephan Storch

Neurobiol Dis· May 2014

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Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.
Mine Franke, Thomas Braulke, Stephan Storch

J Biol Chem· January 2013

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Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
Pieter Steenhuis, Joshua Froemming, Thomas Reinheckel, Stephan Storch

Biochim Biophys Acta· October 2012

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Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.
Anne-Hélène Lebrun, Parisa Moll-Khosrawi, Sandra Pohl, Georgia Makrypidi, Stephan Storch

Mol Med· August 2012

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Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.
Pieter Steenhuis, Stephanie Herder, Suyin Gelis, Thomas Braulke, Stephan Storch

Traffic· July 2010

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Mannose phosphorylation in health and disease.
Katrin Kollmann, Sandra Pohl, Katrin Marschner, Marisa Encarnação, Imme Sakwa, Stephan Storch

Eur J Cell Biol· January 2010

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Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
Sandra Pohl, Katrin Marschner, Stephan Storch, Thomas Braulke

Biol Chem· July 2009

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Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Anne-Hélène Lebrun, Stephan Storch, Franz Rüschendorf, Mia-Lisa Schmiedt, Aija Kyttälä

Hum Mutat· May 2009

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