CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8464-5
Abstract: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders that are characterized by pyramidal tract affection and variable other neurological manifestations [2]. Mutations in the CAPN1 gene have recently been identified as… read more here.
Keywords: ataxia; spasticity; capn1 mutations; capn1 ... See more keywords
Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116691
Abstract: BACKGROUND Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). To investigate the role of CAPN1 in spastic paraplegia and other neurodegenerative diseases, including… read more here.
Keywords: neurodegenerative diseases; spastic paraplegia; paraplegia; mutation analysis ... See more keywords
Arsenic impairs GLUT1 trafficking through the inhibition of the calpain system in lymphocytes.
Sign Up to like & getrecommendations! Published in 2019 at "Toxicology and applied pharmacology"
DOI: 10.1016/j.taap.2019.114700
Abstract: Exposure to arsenic is associated with increased risk of developing insulin resistance and type 2 diabetes. The proteases calpain-1 (CAPN1), calpain-2 (CAPN2) and calpain-10 (CAPN10) and their endogenous inhibitor calpastatin (CAST) regulate glucose uptake in… read more here.
Keywords: calpain; glut1 trafficking; glucose uptake; impairs glut1 ... See more keywords
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2020.1763344
Abstract: Abstract Purpose SPG76 is one of the rare forms of hereditary spastic paraplegia (HSP) which causes by mutations in the CAPN1 gene. The mode of inheritance of SPG76 is autosomal recessive (AR) and so far,… read more here.
Keywords: iranian family; hereditary spastic; pure hsp; hsp ... See more keywords
CAPN1 (Calpain1)-Dependent Cleavage of STIM1 (Stromal Interaction Molecule 1) Results in an Enhanced SOCE (Store-Operated Calcium Entry) in Human Neonatal Platelets
Sign Up to like & getrecommendations! Published in 2023 at "Arteriosclerosis, Thrombosis, and Vascular Biology"
DOI: 10.1161/atvbaha.122.318015
Abstract: Background: Altered intracellular Ca2+ homeostasis in neonatal platelets has been previously reported. This study aims to examine the changes in the Ca2+ entry through the store-operated calcium entry (SOCE) mechanism in neonatal platelets. Methods: Human… read more here.
Keywords: capn1; stromal interaction; ca2; neonatal platelets ... See more keywords
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2019.00580
Abstract: CAPN1 encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine protease widely present in the central nervous system. Mutations in CAPN1 have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP)… read more here.
Keywords: hereditary spastic; capn1 mutation; hsp; spastic paraplegia ... See more keywords
miR-140-5p alleviates mouse liver ischemia/reperfusion injury by targeting CAPN1
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2021.12314
Abstract: Ischemia/reperfusion (I/R)-induced liver injury remains a primary concern in liver transplantation and hepatectomy. Previous studies have indicated that microRNAs (miRs) are involved in multiple pathophysiological processes, including liver I/R. miR-140-5p reportedly inhibits inflammatory responses and… read more here.
Keywords: capn1; injury; mir 140; liver injury ... See more keywords