| Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss. | Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
Lei P, Zhu Q, Dong W., Free PMC Article | 02/29/2024 |
| TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up. | TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.
Shao Q, Shi X, Ma B, Zeng J, Zheng A, Xie W. | 07/30/2022 |
| Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases. | Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.
Zhang N, Hou M, Ma S, Liu Y, Wei W, Chen Z. | 12/25/2021 |
| TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss. | 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., Free PMC Article | 11/13/2021 |
| Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. | Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Tona R, Lopez IA, Fenollar-Ferrer C, Faridi R, Anselmi C, Khan AA, Shahzad M, Morell RJ, Gu S, Hoa M, Dong L, Ishiyama A, Belyantseva IA, Riazuddin S, Friedman TB., Free PMC Article | 07/17/2021 |
| Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy. | Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.
Uzunhan TA, Uyanik B. | 06/12/2021 |
| TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes. | TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.
Kim Nguyen NT, Ohbayashi N, Kanaho Y, Funakoshi Y. | 01/16/2021 |
| TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons. | 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., Free PMC Article | 09/12/2020 |
| In a Drosophila model neuronally expressing human TBC1D24, the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, but TBC1D24R360H is benign. The phenotypes of the TBC1D24G501R mutation are consistent with oxidative stress sensitivity, rescued by antioxidants. TLDc domain mutations of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. | 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. | 05/23/2020 |
| Multifocal myoclonus, epilepsia partialis continua (EPC), and fever-induced seizures were the most prominent features of epilepsy patients with TBC1D24 mutations. The best therapeutic strategy to terminate EPC might be using chloral hydrate to induce sleep and control the infection and temperature. Hearing loss and abnormal brain MRIs might exacerbate the condition during follow-up. | Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
Zhang J, Chen J, Zeng Q, Zhang L, Tian X, Yang X, Yang Z, Wu Y, Wu X, Zhang Y. | 01/25/2020 |
| eight individuals with epilepsy and developmental delay who share overlapping microdeletions at 16p13.3 including TBC1D24, ATP6V0C, and PDPK1 | A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. | 09/7/2019 |
| We then further investigated TBC1D24 haploinsufficiency in vivo and demonstrate that TBC1D24 is also crucial for normal presynaptic function: genetic disruption of Tbc1d24 expression in the mouse leads to an impairment of endocytosis and an enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission. | The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Finelli MJ, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, Degiacomi MT, Grasegger J, Lupien-Meilleur A, Bassett A, Rossignol E, Campeau PM, Bowl MR, Benfenati F, Fassio A, Oliver PL., Free PMC Article | 06/22/2019 |
| he clinical feature of TBC1D24 gene mutation related epilepsy was focal myoclonus, and tended to develop into myoclonic status epilepticus, and could be aggravated by infections, and terminated by sleep or sedation drugs. | [Clinical phenotypes of TBC1D24 gene related epilepsy].
Zhang J, Zhang YH, Chen JY, Zhang LP, Zeng Q, Tian XJ, Yang ZX, Wu Y, Yang XL, Wu XR. | 04/6/2019 |
| TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration | 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., Free PMC Article | 12/22/2018 |
| Silencing TBC1D24 inhibited MCF-7 cells growth in vitro and in vivo. TBC1D24 promoted breast carcinoma growth through the IGF1R/PI3K/AKT pathway. | Downregulation of TBC1 Domain Family Member 24 (BC1D24) Inhibits Breast Carcinoma Growth via IGF1R/PI3K/AKT Pathway.
Qu X, Zhao B, Hu M, Ji Z, Xu J, Xia W, Qu Y., Free PMC Article | 10/20/2018 |
| We identified a homozygous single base alteration, c.1415 G>A;p.G428R, in TBC1D24 gene. This mutation was found in the proband's parents and elder sister as heterozygous. The c.1415G>A mutation has not been reported previously. The c.1415G>A was considered to be damaging by SIFT software | Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.
Atli E, Gurkan H, Ulusal S, Karal Y, Atli EI, Tozkir H. | 08/25/2018 |
| Here, we present a familial case of a lethal early-onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the TBC1D24 gene, which were detected by exome sequencing | Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A. | 10/21/2017 |
| TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death | 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., Free PMC Article | 05/7/2017 |
| TBC1D24-related epilepsy can manifest with hypotonia, developmental delays, and a variety of focal-onset seizures. | Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
Appavu B, Guido-Estrada N, Lindstrom K, Grebe T, Kerrigan JF, Troester M. | 03/4/2017 |
| mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco | Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
Bakhchane A, Charif M, Salime S, Boulouiz R, Nahili H, Roky R, Lenaers G, Barakat A., Free PMC Article | 06/4/2016 |
| This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes | Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
Stražišar BG, Neubauer D, Paro Panjan D, Writzl K. | 04/2/2016 |
| that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear. | A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
Zhang L, Hu L, Chai Y, Pang X, Yang T, Wu H. | 01/24/2015 |
| TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. | TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ., Free PMC Article | 01/24/2015 |
| Novel variations in TBC1D24 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI). | Lack of pathogenic mutations in six patients with MMPSI.
De Filippo MR, Rizzo F, Marchese G, Giurato G, Nassa G, Ravo M, Tarallo R, Pironti E, Vecchi M, Crichiutti G, Capizzi G, Verrotti A, Weisz A, Coppola G. | 11/8/2014 |
| Recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness in human. | Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB., Free PMC Article | 03/1/2014 |