Stephan Storch
Hamburg, HH 20246, Germany
Last Updated: 09/26/2026
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Found 20 publications
Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease.
Journal: Human molecular genetics
Published: February 12, 2025
Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses.
Journal: Frontiers in neurology
Published: January 31, 2022
Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
Journal: Autophagy
Published: December 29, 2021
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry.
Journal: iScience
Published: November 04, 2021
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Journal: Autophagy
Published: February 26, 2021
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Journal: EMBO molecular medicine
Published: November 19, 2020
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Journal: Nature communications
Published: November 05, 2020
Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.
Journal: The Journal of biological chemistry
Published: April 10, 2020
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Journal: Clinical genetics
Published: September 06, 2019
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.
Journal: CNS drugs
Published: March 17, 2019
A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.
Journal: Molecular genetics and metabolism
Published: August 13, 2018
Last Updated: 09/26/2026