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Alexander G. Bassuk - Publications

Affiliations: 
Molecular and Cell Biology University of Iowa, Iowa City, IA 
Area:
Neuroscience Biology, Molecular Biology
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63 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Tang PH, Chemudupati T, Wert KJ, Folk JC, Mahajan M, Tsang SH, Bassuk AG, Mahajan VB. Phenotypic variance in Calpain-5 retinal degeneration. American Journal of Ophthalmology Case Reports. 18: 100627. PMID 32274441 DOI: 10.1016/J.Ajoc.2020.100627  0.336
2020 Velez G, Sun YJ, Khan S, Yang J, Herrmann J, Chemudupati T, MacLaren RE, Gakhar L, Wakatsuki S, Bassuk AG, Mahajan VB. Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants. Cell Reports. 30: 881-892.e5. PMID 31968260 DOI: 10.1016/J.Celrep.2019.12.077  0.655
2019 Oh JK, Lima de Carvalho JR, Sun YJ, Ragi S, Yang J, Levi SR, Ryu J, Bassuk AG, Mahajan VB, Tsang SH. Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. Orphanet Journal of Rare Diseases. 14: 295. PMID 31856884 DOI: 10.1186/S13023-019-1275-2  0.432
2019 Zhang L, Cui X, Han Y, Park KS, Gao X, Zhang X, Yuan Z, Hu Y, Hsu CW, Li X, Bassuk AG, Mahajan VB, Wang NK, Tsang SH. Hypoxic drive caused Type 3 neovascularization in a preclinical model of exudative age-related macular degeneration. Human Molecular Genetics. PMID 31518400 DOI: 10.1093/Hmg/Ddz159  0.301
2019 Wert KJ, Koch SF, Velez G, Hsu CW, Mahajan M, Bassuk AG, Tsang SH, Mahajan VB. CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials. Human Mutation. PMID 31403230 DOI: 10.1002/Humu.23894  0.382
2019 Chang YJ, Xu CL, Cui X, Bassuk AG, Mahajan VB, Tsai YT, Tsang SH. CRISPR Base Editing in Induced Pluripotent Stem Cells. Methods in Molecular Biology (Clifton, N.J.). PMID 31250381 DOI: 10.1007/7651_2019_243  0.334
2019 Abe K, Cox A, Takamatsu N, Velez G, Laxer RM, Tse SML, Mahajan VB, Bassuk AG, Fuchs H, Ferguson PJ, Hrabe de Angelis M. Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans. Proceedings of the National Academy of Sciences of the United States of America. PMID 31138708 DOI: 10.1073/Pnas.1819825116  0.315
2019 Velez G, Yang J, Li AS, Tsang SH, Bassuk AG, Mahajan VB. Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy. Scientific Reports. 9: 7608. PMID 31110225 DOI: 10.1038/S41598-019-44031-7  0.309
2019 Wert KJ, Bakall B, Bassuk AG, Tsang SH, Mahajan VB. Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia. Ophthalmic Surgery, Lasers & Imaging Retina. 50: e158-e162. PMID 31100169 DOI: 10.3928/23258160-20190503-15  0.33
2019 Sancho-Pelluz J, Cui X, Lee W, Tsai YT, Wu WH, Justus S, Washington I, Hsu CW, Park KS, Koch S, Velez G, Bassuk AG, Mahajan VB, Lin CS, Tsang SH. Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho mutation. Cellular and Molecular Life Sciences : Cmls. PMID 30976840 DOI: 10.1007/S00018-019-03090-9  0.432
2019 Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, ... ... Bassuk AG, et al. The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. Human Molecular Genetics. PMID 30689861 DOI: 10.1093/Hmg/Ddz010  0.371
2019 Tang PH, Velez G, Tsang SH, Bassuk AG, Mahajan VB. VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site. Investigative Ophthalmology & Visual Science. 60: 282-293. PMID 30657523 DOI: 10.1167/Iovs.18-25624  0.37
2018 Liu KY, Sengillo JD, Velez G, Jauregui R, Sakai LY, Maumenee IH, Bassuk AG, Mahajan VB, Tsang SH. Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity. Orphanet Journal of Rare Diseases. 13: 138. PMID 30111362 DOI: 10.1186/S13023-018-0885-4  0.303
2018 Todd BP, Bassuk AG. A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder. Journal of Neurogenetics. 1-3. PMID 29790814 DOI: 10.1080/01677063.2018.1473862  0.441
2018 Lin MK, Yang J, Hsu CW, Gore A, Bassuk AG, Brown LM, Colligan R, Sengillo JD, Mahajan VB, Tsang SH. HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1. Aging Cell. e12710. PMID 29730901 DOI: 10.1111/Acel.12710  0.36
2018 Velez G, Bassuk AG, Schaefer KA, Brooks B, Gakhar L, Mahajan M, Kahn P, Tsang SH, Ferguson PJ, Mahajan VB. A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. Cold Spring Harbor Molecular Case Studies. PMID 29472286 DOI: 10.1101/mcs.a002519  0.662
2018 Velez G, Machlab DA, Tang PH, Sun Y, Tsang SH, Bassuk AG, Mahajan VB. Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases. Plos One. 13: e0193250. PMID 29466423 DOI: 10.1371/Journal.Pone.0193250  0.305
2018 Wu WH, Tsai YT, Justus S, Cho GY, Sengillo JD, Xu Y, Cabral T, Lin CS, Bassuk AG, Mahajan VB, Tsang SH. CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa: A Brief Methodology. Methods in Molecular Biology (Clifton, N.J.). 1715: 191-205. PMID 29188514 DOI: 10.1007/978-1-4939-7522-8_13  0.367
2018 Schaefer KA, Wu W, Colgan DF, Tsang SH, Bassuk AG, Mahajan VB. Correction: Retraction: Unexpected mutations after CRISPR–Cas9 editing in vivo Nature Methods. 15: 394-394. DOI: 10.1038/Nmeth0518-394A  0.345
2017 Yang T, Kersigo J, Wu S, Fritzsch B, Bassuk AG. Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea. Plos One. 12: e0183773. PMID 28837644 DOI: 10.1371/Journal.Pone.0183773  0.318
2017 Schaefer KA, Wu WH, Colgan DF, Tsang SH, Bassuk AG, Mahajan VB. Unexpected mutations after CRISPR-Cas9 editing in vivo. Nature Methods. 14: 547-548. PMID 28557981 DOI: 10.1038/Nmeth.4293  0.399
2017 Toral MA, Velez G, Boudreault K, Schaefer KA, Xu Y, Saffra N, Bassuk AG, Tsang SH, Mahajan VB. Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia. Molecular Genetics & Genomic Medicine. 5: 202-209. PMID 28546991 DOI: 10.1002/Mgg3.266  0.417
2017 Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, Erives A, Mahajan VB, Bassuk AG, Ferguson PJ. Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). Plos One. 12: e0169687. PMID 28301468 DOI: 10.1371/Journal.Pone.0169687  0.39
2017 Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, ... ... Bassuk AG, et al. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Annals of Clinical and Translational Neurology. 4: 26-35. PMID 28078312 DOI: 10.1002/Acn3.372  0.378
2017 Velez G, Gakhar L, Khan S, Koster HJ, Yang J, Tsang SH, Bassuk AG, Mahajan VB. Crystal structure of the human calpain-5 catalytic core Acta Crystallographica Section a Foundations and Advances. 73: a31-a32. DOI: 10.1107/S0108767317099688  0.587
2016 Ehaideb SN, Wignall EA, Kasuya J, Evans WH, Iyengar A, Koerselman HL, Lilienthal AJ, Bassuk AG, Kitamoto T, Manak JR. Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans. Annals of Clinical and Translational Neurology. 3: 695-707. PMID 27648459 DOI: 10.1002/Acn3.334  0.384
2016 Zhang L, Justus S, Xu Y, Pluchenik T, Hsu CW, Yang J, Duong JK, Lin CS, Jia Y, Bassuk AG, Mahajan VB, Tsang SH. Reprogramming toward anabolism impedes degeneration in a preclinical model of retinitis pigmentosa. Human Molecular Genetics. PMID 27516389 DOI: 10.1093/Hmg/Ddw256  0.353
2016 Gakhar L, Bassuk AG, Velez G, Khan S, Yang J, Tsang SH, Mahajan VB. Small-angle x-ray scattering of calpain-5 reveals a highly open conformation among calpains. Journal of Structural Biology. PMID 27474374 DOI: 10.1016/J.Jsb.2016.07.017  0.627
2016 Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB. Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy. Clinical Ophthalmology (Auckland, N.Z.). 10: 1187-97. PMID 27390515 DOI: 10.2147/Opth.S103324  0.326
2016 Wu WH, Tsai YT, Justus S, Lee T, Zhang L, Lin CS, Bassuk AG, Mahajan VB, Tsang SH. CRISPR repair reveals causative mutation in a preclinical model of retinitis pigmentosa. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 27203441 DOI: 10.1038/Mt.2016.107  0.462
2016 Wert KJ, Mahajan VB, Zhang L, Yan Y, Li Y, Tosi J, Hsu CW, Nagasaki T, Janisch KM, Grant MB, Mahajan M, Bassuk AG, Tsang SH. Neuroretinal hypoxic signaling in a new preclinical murine model for proliferative diabetic retinopathy. Signal Transduction and Targeted Therapy. 1. PMID 27195131 DOI: 10.1038/Sigtrans.2016.5  0.327
2016 Moshfegh Y, Velez G, Li Y, Bassuk AG, Mahajan VB, Tsang SH. BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE. Human Molecular Genetics. PMID 27193166 DOI: 10.1093/Hmg/Ddw126  0.36
2016 Mahajan VB, Bassuk AG. Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. American Journal of Human Genetics. 98: 590-1. PMID 26942292 DOI: 10.1016/J.Ajhg.2016.02.002  0.317
2016 Darbro BW, Singh R, Zimmerman MB, Mahajan VB, Bassuk AG. Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate. Plos One. 11: e0149041. PMID 26934580 DOI: 10.1371/Journal.Pone.0149041  0.311
2016 Bassuk AG, Sherr EH. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. Journal of Neurogenetics. 1-4. PMID 26727662 DOI: 10.3109/01677063.2015.1088847  0.448
2015 Wert KJ, Bassuk AG, Wu WH, Gakhar L, Coglan D, Mahajan M, Wu S, Yang J, Lin CS, Tsang SH, Mahajan VB. CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model. Human Molecular Genetics. 24: 4584-98. PMID 25994508 DOI: 10.1093/Hmg/Ddv189  0.696
2015 Bassuk AG, Yeh S, Wu S, Martin DF, Tsang SH, Gakhar L, Mahajan VB. Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment. Plos One. 10: e0122352. PMID 25856303 DOI: 10.1371/Journal.Pone.0122352  0.695
2015 Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, ... ... Bassuk AG, et al. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. Plos Genetics. 11: e1005022. PMID 25763846 DOI: 10.1371/Journal.Pgen.1005022  0.709
2015 Singh R, Darbro B, Bassuk A. GE-02 * PARADOXICAL GENETIC AND EPIDEMIOLOGIC RELATIONSHIPS BETWEEN CANCER AND AUTISM Neuro-Oncology. 17: iii7-iii7. DOI: 10.1093/Neuonc/Nov061.26  0.307
2015 Wert KJ, Bassuk AG, Wu WH, Gakhar L, Coglan D, Mahajan M, Wu S, Yang J, Lin CS, Tsang SH, Mahajan VB. CAPN5 mutation in hereditary uveitis: The R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model Human Molecular Genetics. 24: 4584-4598. DOI: 10.1093/hmg/ddv189  0.654
2014 Ehaideb SN, Iyengar A, Ueda A, Iacobucci GJ, Cranston C, Bassuk AG, Gubb D, Axelrod JD, Gunawardena S, Wu CF, Manak JR. prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies. Proceedings of the National Academy of Sciences of the United States of America. 111: 11187-92. PMID 25024231 DOI: 10.1073/Pnas.1403357111  0.336
2014 Yang T, Bassuk AG, Stricker S, Fritzsch B. Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons. Cell and Tissue Research. 357: 549-61. PMID 24927917 DOI: 10.1007/S00441-014-1925-6  0.318
2014 Sowers LP, Yin T, Mahajan VB, Bassuk AG. Defective motile cilia in Prickle2-deficient mice. Journal of Neurogenetics. 28: 146-52. PMID 24708399 DOI: 10.3109/01677063.2014.885966  0.695
2014 Yang T, Jia Z, Bryant-Pike W, Chandrasekhar A, Murray JC, Fritzsch B, Bassuk AG. Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations. Molecular Genetics & Genomic Medicine. 2: 138-51. PMID 24689077 DOI: 10.1002/Mgg3.53  0.409
2014 Bassuk AG, Sujirakul T, Tsang SH, Mahajan VB. A novel RPGR mutation masquerading as Stargardt disease. The British Journal of Ophthalmology. 98: 709-11. PMID 24489377 DOI: 10.1136/Bjophthalmol-2013-304822  0.315
2014 Wert KJ, Skeie JM, Bassuk AG, Olivier AK, Tsang SH, Mahajan VB. Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina. Human Molecular Genetics. 23: 2665-77. PMID 24381307 DOI: 10.1093/Hmg/Ddt661  0.383
2013 Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, ... ... Bassuk AG, et al. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. Plos One. 8: e80737. PMID 24312498 DOI: 10.1371/Journal.Pone.0080737  0.741
2013 Sowers LP, Mouw TJ, Ferguson PJ, Wemmie JA, Mohapatra DP, Bassuk AG. The non-canonical Wnt ligand Wnt5a rescues morphological deficits in Prickle2-deficient hippocampal neurons Molecular Psychiatry. 18: 1049. PMID 24056908 DOI: 10.1038/Mp.2013.119  0.673
2013 Yang T, Bassuk AG, Fritzsch B. Prickle1 stunts limb growth through alteration of cell polarity and gene expression. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 242: 1293-306. PMID 23913870 DOI: 10.1002/Dvdy.24025  0.317
2013 Safra N, Bassuk AG, Ferguson PJ, Aguilar M, Coulson RL, Thomas N, Hitchens PL, Dickinson PJ, Vernau KM, Wolf ZT, Bannasch DL. Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. Plos Genetics. 9: e1003646. PMID 23874236 DOI: 10.1371/Journal.Pgen.1003646  0.356
2013 Robinson A, Partridge D, Malhas A, De Castro SC, Gustavsson P, Thompson DN, Vaux DJ, Copp AJ, Stanier P, Bassuk AG, Greene ND. Is LMNB1 a susceptibility gene for neural tube defects in humans? Birth Defects Research. Part a, Clinical and Molecular Teratology. 97: 398-402. PMID 23733478 DOI: 10.1002/Bdra.23141  0.385
2013 Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak JR, Manak RJ, ... ... Bassuk AG, et al. Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction. Molecular Psychiatry. 18: 1077-89. PMID 23711981 DOI: 10.1038/Mp.2013.71  0.714
2013 Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. American Journal of Medical Genetics. Part A. 161: 1722-5. PMID 23686817 DOI: 10.1002/Ajmg.A.35946  0.331
2013 Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, ... ... Bassuk AG, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human Mutation. 34: 1075-9. PMID 23674478 DOI: 10.1002/Humu.22351  0.677
2013 Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG. Presence of epilepsy-associated variants in large exome databases. Journal of Neurogenetics. 27: 1-4. PMID 23527921 DOI: 10.3109/01677063.2013.772176  0.328
2013 Mei X, Wu S, Bassuk AG, Slusarski DC. Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis. Disease Models & Mechanisms. 6: 679-88. PMID 23324328 DOI: 10.1242/Dmm.010793  0.309
2013 Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak RJ, Shepherd AJ, ... ... Bassuk AG, et al. Erratum: Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction Molecular Psychiatry. 19: 742-742. DOI: 10.1038/Mp.2013.143  0.689
2012 Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. Plos Genetics. 8: e1003001. PMID 23055945 DOI: 10.1371/Journal.Pgen.1003001  0.442
2011 Bosoi CM, Capra V, Allache R, Trinh VQ, De Marco P, Merello E, Drapeau P, Bassuk AG, Kibar Z. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Human Mutation. 32: 1371-5. PMID 21901791 DOI: 10.1002/Humu.21589  0.408
2011 Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, ... ... Bassuk AG, et al. Mutations in prickle orthologs cause seizures in flies, mice, and humans. American Journal of Human Genetics. 88: 138-49. PMID 21276947 DOI: 10.1016/J.Ajhg.2010.12.012  0.724
2009 Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Annals of Neurology. 66: 532-6. PMID 19847901 DOI: 10.1002/Ana.21765  0.383
2009 Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nature Genetics. 41: 1037-42. PMID 19668217 DOI: 10.1038/Ng.422  0.307
2008 Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. American Journal of Human Genetics. 83: 572-81. PMID 18976727 DOI: 10.1016/J.Ajhg.2008.10.003  0.306
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