| Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. | Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
Morales JA, Valenzuela I, Cuscó I, Cogné B, Isidor B, Matalon DR, Gomez-Ospina N. | 04/23/2022 |
| WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy. | WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy.
Wang Y, Zhang S, Sun Q, Yuan F, Zhao L, Ye Z, Li Y, Wang R, Jiang H, Hu P, Tian D, Liu B. | 02/12/2022 |
| Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. | Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
Wahlster L, Verboon JM, Ludwig LS, Black SC, Luo W, Garg K, Voit RA, Collins RL, Garimella K, Costello M, Chao KR, Goodrich JK, DiTroia SP, O'Donnell-Luria A, Talkowski ME, Michelson AD, Cantor AB, Sankaran VG., Free PMC Article | 10/2/2021 |
| Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. | Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.
Alawadhi A, Morgan AT, Mucha BE, Scheffer IE, Myers KA. | 08/14/2021 |
| A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). | A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E, Bellini M, Aspromonte MC, Polli R, Mercante A, Ciaccio C, Granocchio E, Bettella E, Donati I, Cainelli E, Boni S, Sartori S, Pantaleoni C, Boniver C, Murgia A., Free PMC Article | 01/23/2021 |
| these results indicate an important role for WAC in promoting Plk1 activation and the timely entry into mitosis. | WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry.
Qi F, Chen Q, Chen H, Yan H, Chen B, Xiang X, Liang C, Yi Q, Zhang M, Cheng H, Zhang Z, Huang J, Wang F. | 12/7/2019 |
| Our observation allows us to redefine the smallest region of overlap among patients reported so far, with a size of 80 Kb and which contains only the WAC gene. These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders. | A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Abdelhedi F, El Khattabi L, Essid N, Viot G, Letessier D, Lebbar A, Dupont JM. | 10/28/2017 |
| De novo WAC loss-of-function mutations were identified through exome sequencing of individuals with unexplained intellectual disability. | De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE., Free PMC Article | 07/29/2017 |
| WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome | WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD Study, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. | 08/6/2016 |
| Data show that WAC directly binds to GM130 and that this binding is required for autophagosome formation through interacting with GABARAP regulating its subcellular localization. | Activation of ULK Kinase and Autophagy by GABARAP Trafficking from the Centrosome Is Regulated by WAC and GM130.
Joachim J, Jefferies HB, Razi M, Frith D, Snijders AP, Chakravarty P, Judith D, Tooze SA., Free PMC Article | 04/30/2016 |
| The identification of SCOC and WAC as novel regulatory proteins with diverse functions in autophagy contributes towards a fuller understanding of autophagosome formation. | Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC.
McKnight NC, Jefferies HB, Alemu EA, Saunders RE, Howell M, Johansen T, Tooze SA., Free PMC Article | 06/16/2012 |