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Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. [PDF]

Int J Mol Sci
Poudel BH, Fletcher S, Wilton SD, Aung-Htut M.   +3 more
europepmc   +1 more source

CLN7 is an organellar chloride channel regulating lysosomal function [PDF]

Science Advances, 2021
The disease-associated protein CLN7 forms an organellar chloride channel and regulates lysosomal calcium signaling and function.
Tian Xue, Lili Qu, Yichuan Yao
exaly   +3 more sources

Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2012
CLN7 is a polytopic lysosomal membrane glycoprotein of unknown function and is deficient in variant late infantile neuronal ceroid lipofuscinosis. Here we show that full-length CLN7 is proteolytically cleaved twice, once proximal to the used N-glycosylation sites in lumenal loop L9 and once distal to these sites.
Thomas Reinheckel, Stephan Storch
exaly   +4 more sources

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

Human Molecular Genetics, 2018
Defects in the MFSD8 gene encoding the lysosomal membrane protein CLN7 lead to CLN7 disease, a neurodegenerative lysosomal storage disorder belonging to the group of neuronal ceroid lipofuscinoses. Here, we have performed a SILAC-based quantitative analysis of the lysosomal proteome using Cln7-deficient mouse embryonic fibroblasts (MEFs) from a Cln7 ...
Tatyana Danyukova, Stephan Storch, Melanie Thelen   +2 more
exaly   +4 more sources

Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7

Investigative Opthalmology & Visual Science, 2016
Neuronal ceroid lipofuscinoses comprise a genetically heterogeneous group of mainly childhood-onset neurodegenerative lysosomal storage disorders. Progressive loss of vision is among the typical clinical symptoms of these fatal disorders. Here, we performed a detailed analysis of retinal degeneration in mice deficient in the lysosomal membrane protein ...
Simon Dulz, Stephan Storch, Christian Hagel   +2 more
exaly   +3 more sources

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Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease

Human Molecular Genetics
Abstract CLN7 disease is a neurodegenerative lysosomal storage disorder caused by defects in MFSD8. We performed a comprehensive analysis of patient mutations causing CLN7 disease, variant late-infantile and non-syndromic adult phenotypes.
Stephan Storch
exaly   +3 more sources