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TBC1D24-Related Disorders.
Mucha BE, Hennekam RCM, Sisodiya S, Campeau PM. Mucha BE, et al. 2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 25719194 Free Books & Documents. Review.
Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies. DIAGNOSIS/TESTING: The diagnosis of a TBC1D24-related disorder is established in an individual with biallelic TBC1D24 pathogenic variants when the mode of inheritan …
Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies. DIAGNOSIS/TESTING: The diagnosis of a …
TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.
Kim Nguyen NT, Ohbayashi N, Kanaho Y, Funakoshi Y. Kim Nguyen NT, et al. Biochem Biophys Res Commun. 2020 Jul 12;528(1):220-226. doi: 10.1016/j.bbrc.2020.05.007. Epub 2020 May 29. Biochem Biophys Res Commun. 2020. PMID: 32475639
Overexpression of TBC1D24 in HeLa cells dramatically increased TREs loaded with CIE cargo proteins, while deletion of TBC1D24 impaired TRE formation and delayed the recycling of CIE cargo proteins back to the plasma membrane. We also found that TBC1D24 binds …
Overexpression of TBC1D24 in HeLa cells dramatically increased TREs loaded with CIE cargo proteins, while deletion of TBC1D24
[Novel compound heterozygous TBC1D24 mutations in a boy with infantile focal myoclonic epilepsy and literature review].
Li WH, Zhou SZ, Zhang LM, Wang XH, Zhang YJ, Wu BB, Wang HJ, Yang HW. Li WH, et al. Zhonghua Er Ke Za Zhi. 2017 Jan 2;55(1):50-53. doi: 10.3760/cma.j.issn.0578-1310.2017.01.010. Zhonghua Er Ke Za Zhi. 2017. PMID: 28072960 Review. Chinese.
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clinical data of a patient with novel TBC1D24 compound heterozygous mutations from Children's Hospital of Fudan University were collected …
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clin …
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A. Aprile D, et al. Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11. Cell Death Differ. 2019. PMID: 30858606 Free PMC article.
Although pathogenic mutations in TBC1D24 span the entire coding sequence, no clear genotype/phenotype correlations have emerged. ...The axonal phenotype was accompanied by an impairment of endocytosis at the growth cone and an altered activation of the TBC1D24 molec …
Although pathogenic mutations in TBC1D24 span the entire coding sequence, no clear genotype/phenotype correlations have emerged. ...T …
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R. Lüthy K, et al. Brain. 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175. Brain. 2019. PMID: 31257402
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) do …
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The …
TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration.
Yoon J, Hwang YS, Lee M, Sun J, Cho HJ, Knapik L, Daar IO. Yoon J, et al. Nat Commun. 2018 Aug 28;9(1):3491. doi: 10.1038/s41467-018-05924-9. Nat Commun. 2018. PMID: 30154457 Free PMC article.
Moreover, we found that, in migrating CNC, the interaction between ephrinB2 and TBC1d24 negatively regulates E-cadherin recycling in these cells via Rab35. ...Our results indicate that TBC1d24 is a critical player in ephrinB2 control of CNC cell migration via CIL... …
Moreover, we found that, in migrating CNC, the interaction between ephrinB2 and TBC1d24 negatively regulates E-cadherin recycling in …
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.
Falace A, Buhler E, Fadda M, Watrin F, Lippiello P, Pallesi-Pocachard E, Baldelli P, Benfenati F, Zara F, Represa A, Fassio A, Cardoso C. Falace A, et al. Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2337-42. doi: 10.1073/pnas.1316294111. Epub 2014 Jan 27. Proc Natl Acad Sci U S A. 2014. PMID: 24469796 Free PMC article.
TBC1D24 interacts with ADP ribosylation factor (ARF)6, a small GTPase crucial for membrane trafficking. We show that in vivo, overexpression of the dominant-negative form of ARF6 rescues the neuronal migration and dendritic outgrowth defects induced by TBC1D24 knock
TBC1D24 interacts with ADP ribosylation factor (ARF)6, a small GTPase crucial for membrane trafficking. We show that in vivo, overexp
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Ngoh A, Bras J, Guerreiro R, McTague A, Ng J, Meyer E, Chong WK, Boyd S, MacLellan L, Kirkpatrick M, Kurian MA. Ngoh A, et al. Tremor Other Hyperkinet Mov (N Y). 2017 Apr 13;7:452. doi: 10.7916/D8Q52VBV. eCollection 2017. Tremor Other Hyperkinet Mov (N Y). 2017. PMID: 28428906 Free PMC article.
CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a ge …
CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for w …
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Oziębło D, Leja ML, Lazniewski M, Sarosiak A, Tacikowska G, Kochanek K, Plewczynski D, Skarżyński H, Ołdak M. Oziębło D, et al. Sci Rep. 2021 May 13;11(1):10300. doi: 10.1038/s41598-021-89645-y. Sci Rep. 2021. PMID: 33986365 Free PMC article.
To determine the role of TBC1D24 in the development of ADHL and to characterize the TBC1D24-related ADHL, clinical exome sequencing or targeted multigene (n = 237) panel were performed for probands (n = 102) from multigenerational ADHL families. ...His487Leu or c.14 …
To determine the role of TBC1D24 in the development of ADHL and to characterize the TBC1D24-related ADHL, clinical exome seque …
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. Balestrini S, et al. Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281533 Free PMC article.
TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). ...A TBC1D24 consortium was formed to develop further research on this gene and its associated phenotypes....
TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). ...A TBC1D2
92 results