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    CAST calpastatin [ Homo sapiens (human) ]

    Gene ID: 831, updated on 7-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Novel nonsense CAST mutation in two siblings with PLACK syndrome.

    Novel nonsense CAST mutation in two siblings with PLACK syndrome.
    Durmaz CD, Tekmenuray-Unal A.

    09/21/2023
    Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.

    Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.
    Martins AC, Rieck M, Leotti VB, Saraiva-Pereira ML, Jardim LB.

    01/22/2022
    Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.

    Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.
    Flores-Toro J, Chun SK, Shin JK, Campbell J, Lichtenberger M, Chapman W, Zendejas I, Behrns K, Leeuwenburgh C, Kim JS., Free PMC Article

    11/22/2021
    A new recessive form of genetic peeling skin syndrome with peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (termed PLACK syndrome) shown associated with the loss of function mutations in the CAST gene encoding calpastatin.

    A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
    Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP, Yakıcıer MC.

    02/29/2020
    new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation.

    A new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation.
    Sparatore B, Pedrazzi M, Garuti A, Franchi A, Averna M, Ballestrero A, De Tullio R.

    11/30/2019
    Low CAST expression is associated with ovarian cancer.

    Calpain system protein expression and activity in ovarian cancer.
    Zhang S, Deen S, Storr SJ, Chondrou PS, Nicholls H, Yao A, Rungsakaolert P, Martin SG., Free PMC Article

    03/2/2019
    Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain.

    Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain.
    De Tullio R, Franchi A, Martines A, Averna M, Pedrazzi M, Melloni E, Sparatore B., Free PMC Article

    12/22/2018
    single nucleotide polymorphisms in CAST gene confer risk for keratoconus susceptibility in Han Chinese population

    Evaluating the association between calpastatin (CAST) gene and keratoconus in the Han Chinese population.
    Zhang J, Wu D, Li Y, Fan Y, Chen H, Xu J.

    04/7/2018
    Kaposi sarcoma-associated herpesvirus reduces CAST (calpastatin) and consequently decreases ATG5 expression in both THP-1 monocytoid cells and primary monocytes.

    KSHV reduces autophagy in THP-1 cells and in differentiating monocytes by decreasing CAST/calpastatin and ATG5 expression.
    Santarelli R, Granato M, Pentassuglia G, Lacconi V, Gilardini Montani MS, Gonnella R, Tafani M, Torrisi MR, Faggioni A, Cirone M., Free PMC Article

    11/18/2017
    calpains and calpastatin in patients with idiopathic pulmonary arterial hypertension (PAH) and mice with hypoxic or spontaneous (SM22-5HTT(+) strain) PH, were investigated.

    Extracellular Calpain/Calpastatin Balance Is Involved in the Progression of Pulmonary Hypertension.
    Wan F, Letavernier E, Abid S, Houssaini A, Czibik G, Marcos E, Rideau D, Parpaleix A, Lipskaia L, Amsellem V, Gellen B, Sawaki D, Derumeaux G, Dubois-Randé JL, Delcroix M, Quarck R, Baud L, Adnot S.

    07/1/2017
    Loss of CAST in angiogenic ECs facilitates mu-calpain-induced SOCS3 degradation, which amplifies pathological angiogenesis through interleukin-6/STAT3/VEGF-C axis.

    Calpastatin counteracts pathological angiogenesis by inhibiting suppressor of cytokine signaling 3 degradation in vascular endothelial cells.
    Miyazaki T, Taketomi Y, Saito Y, Hosono T, Lei XF, Kim-Kaneyama JR, Arata S, Takahashi H, Murakami M, Miyazaki A.

    06/20/2015
    We describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in calpastatin.

    Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
    Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y., Free PMC Article

    05/16/2015
    Calpastatin binds with Cav1.2 amino acid motifs in a calcium dependent manner.

    The Ca(2+)-dependent interaction of calpastatin domain L with the C-terminal tail of the Cav1.2 channel.
    Sun W, Feng R, Hu H, Guo F, Gao Q, Shao D, Yin D, Wang H, Sun X, Zhao M, Minobe E, Sun Y, Jiao G, Kameyama M, Hao L.

    04/19/2014
    Calpastatin gene (CAST) is not associated with late onset sporadic Parkinson's disease in the Han Chinese population.

    Calpastatin gene (CAST) is not associated with late onset sporadic Parkinson's disease in the Han Chinese population.
    Zhang L, Ding H, Wang DH, Zhang YL, Baskys A, Chan P, Zhong Y, Cai YN., Free PMC Article

    03/8/2014
    HER2 inhibited calpain-1 activity through upregulating calpastatin, an endogenous calpain inhibitor.

    HER2 regulates Brk/PTK6 stability via upregulating calpastatin, an inhibitor of calpain.
    Ai M, Qiu S, Lu Y, Fan Z., Free PMC Article

    02/1/2014
    Linkage analysis and genetic association support involvement of CAST gene in the genetic susceptibility to keratoconus.

    An association between the calpastatin (CAST) gene and keratoconus.
    Li X, Bykhovskaya Y, Tang YG, Picornell Y, Haritunians T, Aldave AJ, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS., Free PMC Article

    08/10/2013
    The results suggest that calpain-2 and calpastatin expression is important in pancreatic cancers, influencing disease progression

    Calpain system protein expression in carcinomas of the pancreas, bile duct and ampulla.
    Storr SJ, Zaitoun AM, Arora A, Durrant LG, Lobo DN, Madhusudan S, Martin SG., Free PMC Article

    07/27/2013
    Neuronal overexpression of calpastatin modulates amyloid precursor protein processing in brains of transgenic beta-amyloid depositing mice.

    Calpastatin modulates APP processing in the brains of β-amyloid depositing but not wild-type mice.
    Morales-Corraliza J, Berger JD, Mazzella MJ, Veeranna, Neubert TA, Ghiso J, Rao MV, Staufenbiel M, Nixon RA, Mathews PM., Free PMC Article

    01/26/2013
    Calpastatin overexpression reduces calpain-mediated proteolysis and behavioral impairment after traumatic brain injury.

    Calpastatin overexpression limits calpain-mediated proteolysis and behavioral deficits following traumatic brain injury.
    Schoch KM, Evans HN, Brelsfoard JM, Madathil SK, Takano J, Saido TC, Saatman KE., Free PMC Article

    09/22/2012
    Mycoplasma hyorhinis membrane lipoproteins induce calpastatin upregulation in human cells

    Calpastatin upregulation in Mycoplasma hyorhinis-infected cells is promoted by the mycoplasma lipoproteins via the NF-κB pathway.
    Elkind E, Vaisid T, Kornspan JD, Barnoy S, Rottem S, Kosower NS.

    09/8/2012
    calpastatin-calpain balance varied during Th-1,2, and -17 development; overexpression of a domain of calpastatin suppressed production of IL-6 and IL-17 by Th cells and of IL-6 by fibroblasts; suppression of IL-6 occurred by reducing NF-kappaB signaling

    Overexpression of a minimal domain of calpastatin suppresses IL-6 production and Th17 development via reduced NF-κB and increased STAT5 signals.
    Iguchi-Hashimoto M, Usui T, Yoshifuji H, Shimizu M, Kobayashi S, Ito Y, Murakami K, Shiomi A, Yukawa N, Kawabata D, Nojima T, Ohmura K, Fujii T, Mimori T., Free PMC Article

    03/31/2012
    The data supports the hypothesis that calpastatin may play a role in regulating the initial metastatic dissemination of breast cancer.

    Calpastatin is associated with lymphovascular invasion in breast cancer.
    Storr SJ, Mohammed RA, Woolston CM, Green AR, Parr T, Spiteri I, Caldas C, Ball GR, Ellis IO, Martin SG.

    01/28/2012
    calpain basal activity becomes measurable at a significant extent in peripheral blood mononuclear cells from cystic fibrosis patients due to a 40-60% decrease in both calpastatin protein and inhibitory activity

    Evidence for alteration of calpain/calpastatin system in PBMC of cystic fibrosis patients.
    Averna M, Stifanese R, De Tullio R, Minicucci L, Cresta F, Palena S, Salamino F, Pontremoli S, Melloni E.

    01/21/2012
    CSL competes with CaM as a partial agonist for the site in the IQ domain in the C-terminal region of the Cav1.2 channel, which may be involved in activation of the channel.

    Calpastatin domain L is a partial agonist of the calmodulin-binding site for channel activation in Cav1.2 Ca2+ channels.
    Minobe E, Asmara H, Saud ZA, Kameyama M., Free PMC Article

    12/31/2011
    intervertebral discs at early stages of degeneration expressed low levels of calpastatin, and few cells expressed degenerative enzymes. At more advanced stages of degeneration, expression and number of cells immunopositive for calpastatin were higher

    Abundance of calpain and aggrecan-cleavage products of calpain in degenerated human intervertebral discs.
    Fukuta S, Miyamoto K, Suzuki K, Maehara H, Inoue T, Hara A, Kikuike K, Taguchi A, Shimizu K.

    12/31/2011
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