Alexander G. Bassuk

Department of Pediatrics, University of Iowa

Research Area

Biography

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 7	2017
Publication title Cited by 7	2023

Other Publications

Article	Year
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. American journal of human genetics\| PubMed ID: 18976727	2008
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. American journal of human genetics\| PubMed ID: 19118815	2009
Novel mutations in VANGL1 in neural tube defects. Human mutation\| PubMed ID: 19319979	2009
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nature genetics\| PubMed ID: 19668217	2009
Genetic basis of neural tube defects. Seminars in pediatric neurology\| PubMed ID: 19778707	2009
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS genetics\| PubMed ID: 20502679	2010
Contribution of VANGL2 mutations to isolated neural tube defects. Clinical genetics\| PubMed ID: 20738329	2011
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. American journal of medical genetics. Part A\| PubMed ID: 20799329	2010
HeyL promotes neuronal differentiation of neural progenitor cells. Journal of neuroscience research\| PubMed ID: 21259317	2011
Mutations in prickle orthologs cause seizures in flies, mice, and humans. American journal of human genetics\| PubMed ID: 21276947	2011
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Human mutation\| PubMed ID: 21901791	2011
Nuclear localization of Prickle2 is required to establish cell polarity during early mouse embryogenesis. Developmental biology\| PubMed ID: 22333836	2012
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS genetics\| PubMed ID: 23055945	2012
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene. Human molecular genetics\| PubMed ID: 23223018	2013
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy. Clinical ophthalmology (Auckland, N.Z.)\| PubMed ID: 23271883	2012
Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis. Disease models & mechanisms\| PubMed ID: 23324328	2013
Presence of epilepsy-associated variants in large exome databases. Journal of neurogenetics\| PubMed ID: 23527921	2013
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human mutation\| PubMed ID: 23674478	2013
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. American journal of medical genetics. Part A\| PubMed ID: 23686817	2013
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\| PubMed ID: 23874236	2013
Prickle1 stunts limb growth through alteration of cell polarity and gene expression. Developmental dynamics : an official publication of the American Association of Anatomists\| PubMed ID: 23913870	2013
Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease. Journal of clinical immunology\| PubMed ID: 24122031	2013
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PloS one\| PubMed ID: 24312498	2013
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina. Human molecular genetics\| PubMed ID: 24381307	2014
Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 24395802	2014
A novel RPGR mutation masquerading as Stargardt disease. The British journal of ophthalmology\| PubMed ID: 24489377	2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome biology\| PubMed ID: 24667040	2014
Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations. Molecular genetics & genomic medicine\| PubMed ID: 24689077	2014
Defective motile cilia in Prickle2-deficient mice. Journal of neurogenetics\| PubMed ID: 24708399	2014
Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons. Cell and tissue research\| PubMed ID: 24927917	2014
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. Developmental biology\| PubMed ID: 24938409	2014
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\| PubMed ID: 25024231	2014
P7C3 neuroprotective chemicals block axonal degeneration and preserve function after traumatic brain injury. Cell reports\| PubMed ID: 25220467	2014
Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue? Tremor and other hyperkinetic movements (New York, N.Y.)\| PubMed ID: 25374765	2014
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. PLoS genetics\| PubMed ID: 25763846	2015
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment. PloS one\| PubMed ID: 25856303	2015
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model. Human molecular genetics\| PubMed ID: 25994508	2015
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. Journal of neurogenetics\| PubMed ID: 26727662	2015
Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells. Scientific reports\| PubMed ID: 26814166	2016
Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease. JAMA ophthalmology\| PubMed ID: 26848019	2016
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate. PloS one\| PubMed ID: 26934580	2016
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. American journal of human genetics\| PubMed ID: 26942292	2016
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses. Investigative ophthalmology & visual science\| PubMed ID: 27152965	2016
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE. Human molecular genetics\| PubMed ID: 27193166	2016
Neuroretinal hypoxic signaling in a new preclinical murine model for proliferative diabetic retinopathy. Signal transduction and targeted therapy\| PubMed ID: 27195131	2016
CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 27203441	2016
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy. Clinical ophthalmology (Auckland, N.Z.)\| PubMed ID: 27390515	2016
Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains. Journal of structural biology\| PubMed ID: 27474374	2016
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors. Human molecular genetics\| PubMed ID: 27516388	2016
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa. Human molecular genetics\| PubMed ID: 27516389	2016
Patterning of papillae on the mouse tongue: A system for the quantitative assessment of planar cell polarity signaling. Developmental biology\| PubMed ID: 27612405	2016
Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans. Annals of clinical and translational neurology\| PubMed ID: 27648459	2016
Biallelic mutations in neuromuscular disease and epileptic encephalopathy. Annals of clinical and translational neurology\| PubMed ID: 28078312	2017
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PloS one\| PubMed ID: 28301468	2017
Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia. Molecular genetics & genomic medicine\| PubMed ID: 28546991	2017
Unexpected mutations after CRISPR-Cas9 editing in vivo. Nature methods\| PubMed ID: 28557981	2017
Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment. American journal of ophthalmology case reports\| PubMed ID: 28825049	2017
Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea. PloS one\| PubMed ID: 28837644	2017
CRISPR-mediated Ophthalmic Genome Surgery. Current ophthalmology reports\| PubMed ID: 28966884	2017
Calpain-5 gene expression in the mouse eye and brain. BMC research notes\| PubMed ID: 29157313	2017
Gene Therapy Restores Mfrp and Corrects Axial Eye Length. Scientific reports\| PubMed ID: 29170418	2017
CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa: A Brief Methodology. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 29188514	2018
Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target. American journal of ophthalmology\| PubMed ID: 29246578	2018
Therapeutic drug repositioning using personalized proteomics of liquid biopsies. JCI insight\| PubMed ID: 29263305	2017
Autologous stem cell therapy for inherited and acquired retinal disease. Regenerative medicine\| PubMed ID: 29360008	2018
Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases. PloS one\| PubMed ID: 29466423	2018
A novel de novo mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. Cold Spring Harbor molecular case studies\| PubMed ID: 29472286	2018
Caring for Hereditary Childhood Retinal Blindness. Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)\| PubMed ID: 29536675	2018
Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice. Annals of clinical and translational neurology\| PubMed ID: 29560370	2018
Combined Blockade of Interleukin-1α and -1β Signaling Protects Mice from Cognitive Dysfunction after Traumatic Brain Injury. eNeuro\| PubMed ID: 29662944	2018
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1. Aging cell\| PubMed ID: 29730901	2018
CRISPR GENOME SURGERY IN THE RETINA IN LIGHT OF OFF-TARGETING. Retina (Philadelphia, Pa.)\| PubMed ID: 29746416	2018
Deferoxamine-induced electronegative ERG responses. Documenta ophthalmologica. Advances in ophthalmology\| PubMed ID: 29770904	2018
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder. Journal of neurogenetics\| PubMed ID: 29790814	2018
Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface. Free radical biology & medicine\| PubMed ID: 29940351	2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity. Orphanet journal of rare diseases\| PubMed ID: 30111362	2018
Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease. Translational vision science & technology\| PubMed ID: 30271679	2018
PROGRESSION OF SCOTOPIC SINGLE-FLASH ELECTRORETINOGRAPHY IN THE STAGES OF CAPN5 VITREORETINOPATHY. Retinal cases & brief reports\| PubMed ID: 30300311	2021
ProSave: an application for restoring quantitative data to manipulated subsets of protein lists. Source code for biology and medicine\| PubMed ID: 30459825	2018
VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site. Investigative ophthalmology & visual science\| PubMed ID: 30657523	2019
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. Human molecular genetics\| PubMed ID: 30689861	2019
Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss. Ophthalmic surgery, lasers & imaging retina\| PubMed ID: 30768229	2019
Drug repositioning in epilepsy reveals novel antiseizure candidates. Annals of clinical and translational neurology\| PubMed ID: 30847362	2019
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho mutation. Cellular and molecular life sciences : CMLS\| PubMed ID: 30976840	2019
Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy. Scientific reports\| PubMed ID: 31110225	2019
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\| PubMed ID: 31138708	2019
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. Genetics research\| PubMed ID: 31190668	2019
CRISPR Base Editing in Induced Pluripotent Stem Cells. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 31250381	2019
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials. Human mutation\| PubMed ID: 31403230	2019
Hypoxic drive caused Type 3 neovascularization in a preclinical model of exudative age-related macular degeneration. Human molecular genetics\| PubMed ID: 31518400	2019
Blast Preconditioning Protects Retinal Ganglion Cells and Reveals Targets for Prevention of Neurodegeneration Following Blast-Mediated Traumatic Brian Injury. Investigative ophthalmology & visual science\| PubMed ID: 31598627	2019
A Mouse Model for Juvenile, Lateral Fluid Percussion Brain Injury Reveals Sex-Dependent Differences in Neuroinflammation and Functional Recovery. Journal of neurotrauma\| PubMed ID: 31621484	2020
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\| PubMed ID: 31856884	2019
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants. Cell reports\| PubMed ID: 31968260	2020
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet journal of rare diseases\| PubMed ID: 32000842	2020
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration. EBioMedicine\| PubMed ID: 32028070	2020
Modulation of Post-Traumatic Immune Response Using the IL-1 Receptor Antagonist Anakinra for Improved Visual Outcomes. Journal of neurotrauma\| PubMed ID: 32056479	2020
Identification of chronic brain protein changes and protein targets of serum auto-antibodies after blast-mediated traumatic brain injury. Heliyon\| PubMed ID: 32099918	2020
Phenotypic variance in Calpain-5 retinal degeneration. American journal of ophthalmology case reports\| PubMed ID: 32274441	2020
Proteomic analysis of intermediate uveitis suggests myeloid cell recruitment and implicates IL-23 as a therapeutic target. American journal of ophthalmology case reports\| PubMed ID: 32274442	2020
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. Nature communications\| PubMed ID: 32561755	2020
Input-output connections of LJA5 prodynorphin neurons. The Journal of comparative neurology\| PubMed ID: 32602558	2021
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis. American journal of ophthalmology\| PubMed ID: 32707200	2021
Sex Does Not Influence Visual Outcomes After Blast-Mediated Traumatic Brain Injury but IL-1 Pathway Mutations Confer Partial Rescue. Investigative ophthalmology & visual science\| PubMed ID: 33030508	2020
Novel inhibitory brainstem neurons with selective projections to spinal lamina I reduce both pain and itch. The Journal of comparative neurology\| PubMed ID: 33247430	2021
Peptidomimetics Therapeutics for Retinal Disease. Biomolecules\| PubMed ID: 33668179	2021
Neuropathophysiological Mechanisms and Treatment Strategies for Post-traumatic Epilepsy. Frontiers in molecular neuroscience\| PubMed ID: 33708071	2021
Structure-based phylogeny identifies avoralstat as a TMPRSS2 inhibitor that prevents SARS-CoV-2 infection in mice. The Journal of clinical investigation\| PubMed ID: 33844653	2021
Visual Outcomes in Experimental Rodent Models of Blast-Mediated Traumatic Brain Injury. Frontiers in molecular neuroscience\| PubMed ID: 33935648	2021
Compound heterozygous variants in progressive myoclonus epilepsy. Journal of neurogenetics\| PubMed ID: 33970744	2021
Gene therapy for Rett syndrome. Genes, brain, and behavior\| PubMed ID: 34053173	2022
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. European journal of human genetics : EJHG\| PubMed ID: 34092786	2021
Traumatic brain injury results in unique microglial and astrocyte transcriptomes enriched for type I interferon response. Journal of neuroinflammation\| PubMed ID: 34225752	2021
Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. Annals of neurology\| PubMed ID: 34288089	2021
The opioid antagonist naltrexone decreases seizure-like activity in genetic and chemically induced epilepsy models. Epilepsia open\| PubMed ID: 34664432	2021
Investigation of Cas9 antibodies in the human eye. Nature communications\| PubMed ID: 35217666	2022
Author Correction: Investigation of Cas9 antibodies in the human eye. Nature communications\| PubMed ID: 35414059	2022
Proteomic analysis of autoimmune retinopathy implicates NrCAM as a potential biomarker. Ophthalmology science\| PubMed ID: 35529077	2022
Calpains as mechanistic drivers and therapeutic targets for ocular disease. Trends in molecular medicine\| PubMed ID: 35641420	2022
Lacosamide decreases neonatal seizures without increasing apoptosis. Epilepsia\| PubMed ID: 36168798	2022
Human Brainstem and Cerebellum Atlas: Chemoarchitecture and Cytoarchitecture Paired to MRI. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 36442999	2023
Downregulation of oxidative stress-mediated glial innate immune response suppresses seizures in a fly epilepsy model. Cell reports\| PubMed ID: 36641750	2023
Fast Detection and Quantification of Interictal Spikes and Seizures in a Rodent Model of Epilepsy Using an Automated Algorithm. Bio-protocol\| PubMed ID: 36968440	2023
Selective neuroimmune modulation by type I interferon drives neuropathology and neurologic dysfunction following traumatic brain injury. Acta neuropathologica communications\| PubMed ID: 37596685	2023