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Published in 2021 at "Neuroscience"
DOI: 10.1016/j.neuroscience.2021.04.023
Abstract: The Small Optic Lobe (SOL) family of calpains are intracellular cysteine proteases that are expressed in the nervous system and play an important role in neuronal development in both Drosophila, where loss of this calpain…
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Keywords:
mice;
capn15;
brain development;
brain ... See more keywords
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Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13920
Abstract: Calpainopathies constitute a heterogeneous group of disorders resulting from deficiencies in calpains, calcium‐specific proteases that modulate substrates by limited proteolysis. Clinical manifestations depend on tissue‐specific expression of the defective calpain and substrate specificity. CAPN15, encoding…
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Keywords:
developmental delay;
congenital malformations;
deletion minimal;
capn15 ... See more keywords