Articles with "capn15" as a keyword



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MRI of Capn15 Knockout Mice and Analysis of Capn 15 Distribution Reveal Possible Roles in Brain Development and Plasticity

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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… read more here.

Keywords: mice; capn15; brain development; brain ... See more keywords
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Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

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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… read more here.

Keywords: developmental delay; congenital malformations; deletion minimal; capn15 ... See more keywords