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For: Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Clin Genet 2017;91:725-38. [PMID: 27807845 DOI: 10.1111/cge.12914] [Cited by in Crossref: 12] [Cited by in F6Publishing: 16] [Article Influence: 2.0] [Reference Citation Analysis]
Number Citing Articles
1 Fasano G, Compagnucci C, Dallapiccola B, Tartaglia M, Lauri A. Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains. Front Mol Neurosci 2022;15:855786. [DOI: 10.3389/fnmol.2022.855786] [Reference Citation Analysis]
2 Bican R, Ferrante R, Hendershot S, Byars M, Lo W, Heathcock JC. Daily Outpatient Physical Therapy for a Toddler With a Neurodegenerative Disease: A Case Report. Pediatr Phys Ther 2022;34:261-7. [PMID: 35385464 DOI: 10.1097/PEP.0000000000000884] [Reference Citation Analysis]
3 Satake T. Epstein-Barr virus-based plasmid enables inheritable transgene expression in mouse cerebral cortex. PLoS One 2021;16:e0258026. [PMID: 34591902 DOI: 10.1371/journal.pone.0258026] [Reference Citation Analysis]
4 Quitmann CM, Rust S, Reunert J, Biskup S, Fiedler B, Marquardt T. Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing. Child Neurol Open 2021;8:2329048X211034969. [PMID: 34423067 DOI: 10.1177/2329048X211034969] [Reference Citation Analysis]
5 Al-Bakheet A, Tohary M, Khan S, Chedrawi A, Edrees A, Tous E, Al-Mousa H, Al-Otaibi L, AlShahrani S, Alsagob M, Al-Quait L, Almass R, Al-Joudi H, Monies D, Al-Semari A, Aldosary M, Daghestani M, Colak D, Kaya N, Al-Owain M. Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype. Clin Genet 2021;99:724-31. [PMID: 33506509 DOI: 10.1111/cge.13932] [Reference Citation Analysis]
6 Fourel G, Boscheron C. Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function. FEBS Lett 2020;594:3409-38. [PMID: 33064843 DOI: 10.1002/1873-3468.13958] [Cited by in Crossref: 4] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
7 Isik E, Yilmaz S, Atik T, Aktan G, Onay H, Gokben S, Ozkinay F. The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies. Neurol Sci 2020;41:3729-39. [DOI: 10.1007/s10072-020-04619-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
8 Tian D, Rizwan K, Liu Y, Kang L, Yang Y, Mao X, Shu L. Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features. Neurol Sci 2019;40:2325-31. [PMID: 31240573 DOI: 10.1007/s10072-019-03979-0] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
9 Shao Y, Liu X, Meng J, Zhang X, Ma Z, Yang G. MicroRNA-1251-5p Promotes Carcinogenesis and Autophagy via Targeting the Tumor Suppressor TBCC in Ovarian Cancer Cells. Mol Ther. 2019;27:1653-1664. [PMID: 31278033 DOI: 10.1016/j.ymthe.2019.06.005] [Cited by in Crossref: 15] [Cited by in F6Publishing: 18] [Article Influence: 5.0] [Reference Citation Analysis]
10 Calhoun JD, Carvill GL. Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era. J Neurogenet 2018;32:295-312. [PMID: 30247086 DOI: 10.1080/01677063.2018.1513509] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
11 Grønborg S, Risom L, Ek J, Larsen KB, Scheie D, Petkov Y, Larsen VA, Dunø M, Joensen F, Østergaard E. A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. Eur J Hum Genet 2018;26:1512-20. [PMID: 29921875 DOI: 10.1038/s41431-018-0204-5] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
12 Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV. Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. BMC Med Genet 2018;19:80. [PMID: 29769041 DOI: 10.1186/s12881-018-0597-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
13 Baple EL, Houlden H, Zollo M, Crosby AH. Reply: PRUNE1: a disease-causing gene for secondary microcephaly. Brain 2017;140:e62. [PMID: 28969377 DOI: 10.1093/brain/awx199] [Reference Citation Analysis]
14 Francis JW, Goswami D, Novick SJ, Pascal BD, Weikum ER, Ortlund EA, Griffin PR, Kahn RA. Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin. J Mol Biol 2017;429:3696-716. [PMID: 28970104 DOI: 10.1016/j.jmb.2017.09.016] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
15 Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 2017;140:940-52. [PMID: 28334956 DOI: 10.1093/brain/awx014] [Cited by in Crossref: 36] [Cited by in F6Publishing: 40] [Article Influence: 7.2] [Reference Citation Analysis]
16 Francis JW, Newman LE, Cunningham LA, Kahn RA. A Trimer Consisting of the Tubulin-specific Chaperone D (TBCD), Regulatory GTPase ARL2, and β-Tubulin Is Required for Maintaining the Microtubule Network. J Biol Chem 2017;292:4336-49. [PMID: 28126905 DOI: 10.1074/jbc.M116.770909] [Cited by in Crossref: 25] [Cited by in F6Publishing: 27] [Article Influence: 5.0] [Reference Citation Analysis]