Ohno S, Minoshima S, Kudoh J et al (1990) Four genes for the calpain family locate on four distinct human chromosomes. Cytogenet Cell Genet 53(4):225–229
Article CAS PubMed Google Scholar
Baudry M (2019) Calpain-1 and calpain-2 in the brain: Dr. Jekill and Mr Hyde? Curr Neuropharmacol 17(9):823–829
Article CAS PubMed PubMed Central Google Scholar
Baudry M, Bi X (2016) Calpain-1 and calpain-2: the yin and yang of synaptic plasticity and neurodegeneration. Trends Neurosci 39(4):235–245
Article CAS PubMed PubMed Central Google Scholar
Etehadi Moghadam S, Azami Tameh A, Vahidinia Z et al (2018) Neuroprotective effects of oxytocin hormone after an experimental stroke model and the possible role of calpain-1. J Stroke Cerebrovasc Dis 27(3):724–732
Gan-Or Z, Bouslam N, Birouk N et al (2016) Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am J Hum Genet 98(6):1271
Article CAS PubMed PubMed Central Google Scholar
Shetty A, Gan-Or Z, Ashtiani S et al (2019) CAPN1 mutations: expanding the CAPN1-related phenotype: from hereditary spastic paraparesis to spastic ataxia. Eur J Med Genet 62(12):103605
Forman OP, De Risio L, Mellersh CS (2013) Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One 8(5):e64627
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424
Article PubMed PubMed Central Google Scholar
Melo US, Freua F, Lynch DS et al (2018) Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clin Genet 94(5):482–483
Article CAS PubMed Google Scholar
Peng F, Sun YM, Quan C et al (2019) Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review. Orphanet J Rare Dis 14(1):83
Article PubMed PubMed Central Google Scholar
Chen Y, Cen Z, Zheng X et al (2019) A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia. J Clin Neurol 15(2):271–272
Article PubMed PubMed Central Google Scholar
Cotti Piccinelli S, Bassi MT, Citterio A et al (2019) A novel CAPN1 mutation causes a pure hereditary spastic paraplegia in an Italian family. Front Neurol 10:580
Article PubMed PubMed Central Google Scholar
Wang Y, Hersheson J, Lopez D et al (2016) Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans. Cell Rep 16(1):79–91
Article CAS PubMed PubMed Central Google Scholar
Travaglini L, Bellacchio E, Aiello C et al (2017) Expanding the clinical phenotype of CAPN1-associated mutations: a new case with congenital-onset pure spastic paraplegia. J Neurol Sci 378:210–212
Kocoglu C, Gundogdu A, Kocaman G et al (2018) Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families. Neurol Genet 4(1):e218
Article CAS PubMed PubMed Central Google Scholar
Tadic V, Klein C, Hinrichs F et al (2017) CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia. J Neurol 264(5):1008–1010
Article CAS PubMed Google Scholar
Lambe J, Monaghan B, Munteanu T et al (2018) CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. Pract Neurol 18(5):369–372
Garcia-Berlanga JE, Moscovich M, Palacios IJ et al (2019) CAPN1 variants as cause of hereditary spastic paraplegia type 76. Case Rep Neurol Med 2019:7615605
PubMed PubMed Central Google Scholar
Goll DE, Thompson VF, Li H et al (2003) The calpain system. Physiol Rev 83(3):731–801
Article CAS PubMed Google Scholar
Chen HL, Yuh CH, Wu KK (2010) Nestin is essential for zebrafish brain and eye development through control of progenitor cell apoptosis. PLoS One 5(2):e9318
Article PubMed PubMed Central Google Scholar
Amini M, Ma CL, Farazifard R et al (2013) Conditional disruption of calpain in the CNS alters dendrite morphology, impairs LTP, and promotes neuronal survival following injury. J Neurosci 33(13):5773–5784
Article CAS PubMed PubMed Central Google Scholar
Souza PVS, Silva LHL, Badia BML et al (2019) SPG76: an extremely rare hereditary spastic paraplegia with a new expanding complicated phenotype. Rev Neurol (Paris) 175(9):572–574
Article CAS PubMed Google Scholar
Rahimi Bidgoli MM, Javanparast L, Rohani M et al (2021) CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation. Int J Neurosci 131(10):962–974
Article CAS PubMed Google Scholar
Méreaux JL, Firanescu C, Coarelli G et al (2021) Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics 22(1):71–79
Article PubMed PubMed Central Google Scholar
Xia ZC, Liu ZH, Zhou XX et al (2020) Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases. J Neurol Sci 411:116691
Article CAS PubMed Google Scholar
Lai LL, Chen YJ, Li YL et al (2020) Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia. Ann Clin Transl Neurol 7(10):1862–1869
Article CAS PubMed PubMed Central Google Scholar
Lo Giudice T, Lombardi F, Santorelli FM et al (2014) Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 261:518–539
Article CAS PubMed Google Scholar
Lu YQ, Dong EL, Yang WQ, et al. Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76). Stem Cell Res 2019;34: 101354.
Zempel H, Mandelkow EM (2015) Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer disease and hereditary spastic paraplegia. Mol Neurodegener 10:68
Article PubMed PubMed Central Google Scholar
Gabrych DR, Lau VZ, Niwa S et al (2019) Going too far is the same as falling short†: kinesin-3 family members in hereditary spastic paraplegia. Front Cell Neurosci 13:419
Article CAS PubMed PubMed Central Google Scholar
Kikkawa M, Okada Y, Hirokawa N (2000) 15 A resolution model of the monomeric kinesin motor, KIF1A. Cell 100(2):241–252
Article CAS PubMed Google Scholar
Shin H, Wyszynski M, Huh KH et al (2003) Association of the kinesin motor KIF1A with the multimodular protein liprin-alpha. J Biol Chem 278(13):11393–11401
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