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KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun H, Wang C, Wang H. Wang Y, et al. Sci Adv. 2022 Aug 5;8(31):eabm5578. doi: 10.1126/sciadv.abm5578. Epub 2022 Aug 3. Sci Adv. 2022. PMID: 35921411 Free PMC article.
However, the underlying mechanisms remain elusive. Here, we report various lysosomal and autophagic defects in KCTD7-deficient cells. Mechanistically, the CRL3-KCTD7 complex degrades CLN5, whereas patient-derived KCTD7 mutations disrupt the interaction betwee …
However, the underlying mechanisms remain elusive. Here, we report various lysosomal and autophagic defects in KCTD7-deficient cells. …
Calpain activity is negatively regulated by a KCTD7-Cullin-3 complex via non-degradative ubiquitination.
Sharma J, Mulherkar S, Chen UI, Xiong Y, Bajaj L, Cho BK, Goo YA, Leung HE, Tolias KF, Sardiello M. Sharma J, et al. Cell Discov. 2023 Mar 24;9(1):32. doi: 10.1038/s41421-023-00533-3. Cell Discov. 2023. PMID: 36964131 Free PMC article.
CRISPR/Cas9-mediated knockout of Kctd7 in mice phenotypically recapitulated human KCTD7 deficiency and resulted in calpain hyperactivation, behavioral impairments, and neurodegeneration. These phenotypes were largely prevented by pharmacological inhibition of calpai …
CRISPR/Cas9-mediated knockout of Kctd7 in mice phenotypically recapitulated human KCTD7 deficiency and resulted in calpain hyp …
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke EA, Sturgeon M, Zastrow DB, Fernandez L, Prybol C, Marwaha S, Frothingham EP, Ward PA, Eng CM, Fresard L, Montgomery SB, Enns GM, Fisher PG, Wolfe LA, Harding B, Carrington B, Bishop K, Sood R, Huang Y, Elkahloun A, Toro C, Bassuk AG, Wheeler MT, Markello TC, Gahl WA, Malicdan MCV. Burke EA, et al. J Neurogenet. 2021 Mar-Jun;35(2):74-83. doi: 10.1080/01677063.2021.1892095. Epub 2021 May 10. J Neurogenet. 2021. PMID: 33970744
Here we report four affected individuals from two unrelated families in which we identified KCTD7 compound heterozygous single nucleotide variants through exome sequencing. ...To gain further insight into the pathogenesis of the disorder, zinc finger nucleases were used to …
Here we report four affected individuals from two unrelated families in which we identified KCTD7 compound heterozygous single nucleo …
KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.
Teng X, Aouacheria A, Lionnard L, Metz KA, Soane L, Kamiya A, Hardwick JM. Teng X, et al. CNS Neurosci Ther. 2019 Jul;25(7):887-902. doi: 10.1111/cns.13156. CNS Neurosci Ther. 2019. PMID: 31197948 Free PMC article. Review.
In contrast, mechanistic understanding of other brain disorders including neurodegeneration has advanced considerably. Yet, these do not approach the knowledge accrued for many cancers with precision therapeutics acting on well-characterized targets. ...Varying levels of e …
In contrast, mechanistic understanding of other brain disorders including neurodegeneration has advanced considerably. Yet, these do not app …
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
Blumkin L, Kivity S, Lev D, Cohen S, Shomrat R, Lerman-Sagie T, Leshinsky-Silver E. Blumkin L, et al. J Neurol. 2012 Dec;259(12):2590-8. doi: 10.1007/s00415-012-6545-z. Epub 2012 May 26. J Neurol. 2012. PMID: 22638565
Mutations in the potassium channel-related gene KCTD7 were described so far in a single family with progressive myoclonus epilepsy. ...The large deletion probably results in a truncated protein. The different phenotype broadens the spectrum of KCTD7-related diseases …
Mutations in the potassium channel-related gene KCTD7 were described so far in a single family with progressive myoclonus epilepsy. . …
Role of alternative splicing signatures in the prognosis of glioblastoma.
Xie ZC, Wu HY, Dang YW, Chen G. Xie ZC, et al. Cancer Med. 2019 Dec;8(18):7623-7636. doi: 10.1002/cam4.2666. Epub 2019 Nov 1. Cancer Med. 2019. PMID: 31674730 Free PMC article.
METHODS: The AS profiles and clinical survival data related to GBM were obtained from The Cancer Genome Atlas database. Univariate and multivariate Cox regression analyses were performed to identify survival-associated AS events. ...Enrichment analysis uncovered that autop …
METHODS: The AS profiles and clinical survival data related to GBM were obtained from The Cancer Genome Atlas database. Univariate an …
Genome-Wide Analysis of Prognostic Alternative Splicing Signature and Splicing Factors in Lung Adenocarcinoma.
Chang YS, Tu SJ, Chiang HS, Yen JC, Lee YT, Fang HY, Chang JG. Chang YS, et al. Genes (Basel). 2020 Oct 31;11(11):1300. doi: 10.3390/genes11111300. Genes (Basel). 2020. PMID: 33142748 Free PMC article.
Analysis of The Cancer Genome Atlas data revealed that alternative splicing (AS) events could serve as prognostic biomarkers in various cancer types. ...The hub genes in the gene network of the OS-related AS events were FBXW11, FBXL5, KCTD7, UBB and CDC27. Th …
Analysis of The Cancer Genome Atlas data revealed that alternative splicing (AS) events could serve as prognostic biomarkers in vario …