Department of Pediatrics,
Department of Neurology,
The Iowa Neuroscience Institute (INI)
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A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
American journal of human genetics Nov, 2008 | Pubmed ID: 18976727
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 Jan, 2009 | Pubmed ID: 19118815
Novel mutations in VANGL1 in neural tube defects.
Human mutation Jul, 2009 | Pubmed ID: 19319979
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Nature genetics Sep, 2009 | Pubmed ID: 19668217
Genetic basis of neural tube defects.
Seminars in pediatric neurology Sep, 2009 | Pubmed ID: 19778707
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
PLoS genetics May, 2010 | Pubmed ID: 20502679
Contribution of VANGL2 mutations to isolated neural tube defects.
Clinical genetics Jul, 2011 | Pubmed ID: 20738329
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
American journal of medical genetics. Part A Nov, 2010 | Pubmed ID: 20799329
HeyL promotes neuronal differentiation of neural progenitor cells.
Journal of neuroscience research Mar, 2011 | Pubmed ID: 21259317
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
American journal of human genetics Feb, 2011 | Pubmed ID: 21276947
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
Human mutation Dec, 2011 | Pubmed ID: 21901791
Nuclear localization of Prickle2 is required to establish cell polarity during early mouse embryogenesis.
Developmental biology Apr, 2012 | Pubmed ID: 22333836
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
PLoS genetics , 2012 | Pubmed ID: 23055945
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
Human molecular genetics Mar, 2013 | Pubmed ID: 23223018
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.
Clinical ophthalmology (Auckland, N.Z.) , 2012 | Pubmed ID: 23271883
Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis.
Disease models & mechanisms May, 2013 | Pubmed ID: 23324328
Presence of epilepsy-associated variants in large exome databases.
Journal of neurogenetics Jun, 2013 | Pubmed ID: 23527921
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Human mutation Aug, 2013 | Pubmed ID: 23674478
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.
American journal of medical genetics. Part A Jul, 2013 | Pubmed ID: 23686817
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 , 2013 | Pubmed ID: 23874236
Prickle1 stunts limb growth through alteration of cell polarity and gene expression.
Developmental dynamics : an official publication of the American Association of Anatomists Nov, 2013 | Pubmed ID: 23913870
Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease.
Journal of clinical immunology Oct, 2013 | Pubmed ID: 24122031
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
PloS one , 2013 | Pubmed ID: 24312498
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Human molecular genetics May, 2014 | Pubmed ID: 24381307
Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice.
Proceedings of the National Academy of Sciences of the United States of America Jan, 2014 | Pubmed ID: 24395802
A novel RPGR mutation masquerading as Stargardt disease.
The British journal of ophthalmology May, 2014 | Pubmed ID: 24489377
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 , 2014 | Pubmed ID: 24667040
Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations.
Molecular genetics & genomic medicine Mar, 2014 | Pubmed ID: 24689077
Defective motile cilia in Prickle2-deficient mice.
Journal of neurogenetics Mar-Jun, 2014 | Pubmed ID: 24708399
Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.
Cell and tissue research Sep, 2014 | Pubmed ID: 24927917
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.
Developmental biology Aug, 2014 | Pubmed ID: 24938409
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 Jul, 2014 | Pubmed ID: 25024231
P7C3 neuroprotective chemicals block axonal degeneration and preserve function after traumatic brain injury.
Cell reports Sep, 2014 | Pubmed ID: 25220467
Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?
Tremor and other hyperkinetic movements (New York, N.Y.) , 2014 | Pubmed ID: 25374765
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
PLoS genetics Mar, 2015 | Pubmed ID: 25763846
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
PloS one , 2015 | Pubmed ID: 25856303
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
Human molecular genetics Aug, 2015 | Pubmed ID: 25994508
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.
Journal of neurogenetics , 2015 | Pubmed ID: 26727662
Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.
Scientific reports Jan, 2016 | Pubmed ID: 26814166
Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease.
JAMA ophthalmology Apr, 2016 | Pubmed ID: 26848019
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.
PloS one , 2016 | Pubmed ID: 26934580
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.
American journal of human genetics Mar, 2016 | Pubmed ID: 26942292
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Investigative ophthalmology & visual science May, 2016 | Pubmed ID: 27152965
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
Human molecular genetics Jul, 2016 | Pubmed ID: 27193166
Neuroretinal hypoxic signaling in a new preclinical murine model for proliferative diabetic retinopathy.
Signal transduction and targeted therapy , 2016 | Pubmed ID: 27195131
CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa.
Molecular therapy : the journal of the American Society of Gene Therapy Aug, 2016 | Pubmed ID: 27203441
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
Clinical ophthalmology (Auckland, N.Z.) , 2016 | Pubmed ID: 27390515
Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.
Journal of structural biology Dec, 2016 | Pubmed ID: 27474374
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
Human molecular genetics Oct, 2016 | Pubmed ID: 27516388
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.
Human molecular genetics Oct, 2016 | Pubmed ID: 27516389
Patterning of papillae on the mouse tongue: A system for the quantitative assessment of planar cell polarity signaling.
Developmental biology Nov, 2016 | Pubmed ID: 27612405
Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.
Annals of clinical and translational neurology Sep, 2016 | Pubmed ID: 27648459
Biallelic mutations in neuromuscular disease and epileptic encephalopathy.
Annals of clinical and translational neurology Jan, 2017 | Pubmed ID: 28078312
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).
PloS one , 2017 | Pubmed ID: 28301468
Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.
Molecular genetics & genomic medicine May, 2017 | Pubmed ID: 28546991
Unexpected mutations after CRISPR-Cas9 editing in vivo.
Nature methods May, 2017 | Pubmed ID: 28557981
Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment.
American journal of ophthalmology case reports Apr, 2017 | Pubmed ID: 28825049
Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea.
PloS one , 2017 | Pubmed ID: 28837644
CRISPR-mediated Ophthalmic Genome Surgery.
Current ophthalmology reports Sep, 2017 | Pubmed ID: 28966884
Calpain-5 gene expression in the mouse eye and brain.
BMC research notes Nov, 2017 | Pubmed ID: 29157313
Gene Therapy Restores Mfrp and Corrects Axial Eye Length.
Scientific reports 11, 2017 | Pubmed ID: 29170418
CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa: A Brief Methodology.
Methods in molecular biology (Clifton, N.J.) , 2018 | Pubmed ID: 29188514
Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target.
American journal of ophthalmology 02, 2018 | Pubmed ID: 29246578
Therapeutic drug repositioning using personalized proteomics of liquid biopsies.
JCI insight Dec, 2017 | Pubmed ID: 29263305
Autologous stem cell therapy for inherited and acquired retinal disease.
Regenerative medicine Jan, 2018 | Pubmed ID: 29360008
Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.
PloS one , 2018 | Pubmed ID: 29466423
A novel de novo mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Cold Spring Harbor molecular case studies Jun, 2018 | Pubmed ID: 29472286
Caring for Hereditary Childhood Retinal Blindness.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) May-Jun, 2018 | Pubmed ID: 29536675
Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice.
Annals of clinical and translational neurology Mar, 2018 | Pubmed ID: 29560370
Combined Blockade of Interleukin-1α and -1β Signaling Protects Mice from Cognitive Dysfunction after Traumatic Brain Injury.
eNeuro , 2018 | Pubmed ID: 29662944
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1.
Aging cell Aug, 2018 | Pubmed ID: 29730901
CRISPR GENOME SURGERY IN THE RETINA IN LIGHT OF OFF-TARGETING.
Retina (Philadelphia, Pa.) Aug, 2018 | Pubmed ID: 29746416
Deferoxamine-induced electronegative ERG responses.
Documenta ophthalmologica. Advances in ophthalmology 08, 2018 | Pubmed ID: 29770904
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.
Journal of neurogenetics Dec, 2018 | Pubmed ID: 29790814
Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface.
Free radical biology & medicine 08, 2018 | Pubmed ID: 29940351
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.
Orphanet journal of rare diseases Aug, 2018 | Pubmed ID: 30111362
Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease.
Translational vision science & technology Sep, 2018 | Pubmed ID: 30271679
PROGRESSION OF SCOTOPIC SINGLE-FLASH ELECTRORETINOGRAPHY IN THE STAGES OF CAPN5 VITREORETINOPATHY.
Retinal cases & brief reports Jul, 2021 | Pubmed ID: 30300311
ProSave: an application for restoring quantitative data to manipulated subsets of protein lists.
Source code for biology and medicine , 2018 | Pubmed ID: 30459825
VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.
Investigative ophthalmology & visual science 01, 2019 | Pubmed ID: 30657523
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Human molecular genetics May, 2019 | Pubmed ID: 30689861
Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.
Ophthalmic surgery, lasers & imaging retina Feb, 2019 | Pubmed ID: 30768229
Drug repositioning in epilepsy reveals novel antiseizure candidates.
Annals of clinical and translational neurology Feb, 2019 | Pubmed ID: 30847362
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho mutation.
Cellular and molecular life sciences : CMLS Sep, 2019 | Pubmed ID: 30976840
Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.
Scientific reports May, 2019 | Pubmed ID: 31110225
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 Jun, 2019 | Pubmed ID: 31138708
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
Genetics research Jun, 2019 | Pubmed ID: 31190668
CRISPR Base Editing in Induced Pluripotent Stem Cells.
Methods in molecular biology (Clifton, N.J.) , 2019 | Pubmed ID: 31250381
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.
Human mutation Dec, 2019 | Pubmed ID: 31403230
Hypoxic drive caused Type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.
Human molecular genetics Sep, 2019 | Pubmed ID: 31518400
Blast Preconditioning Protects Retinal Ganglion Cells and Reveals Targets for Prevention of Neurodegeneration Following Blast-Mediated Traumatic Brian Injury.
Investigative ophthalmology & visual science Oct, 2019 | Pubmed ID: 31598627
A Mouse Model for Juvenile, Lateral Fluid Percussion Brain Injury Reveals Sex-Dependent Differences in Neuroinflammation and Functional Recovery.
Journal of neurotrauma Feb, 2020 | Pubmed ID: 31621484
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 Dec, 2019 | Pubmed ID: 31856884
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Cell reports Jan, 2020 | Pubmed ID: 31968260
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Orphanet journal of rare diseases Jan, 2020 | Pubmed ID: 32000842
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.
EBioMedicine Feb, 2020 | Pubmed ID: 32028070
Modulation of Post-Traumatic Immune Response Using the IL-1 Receptor Antagonist Anakinra for Improved Visual Outcomes.
Journal of neurotrauma Jun, 2020 | Pubmed ID: 32056479
Identification of chronic brain protein changes and protein targets of serum auto-antibodies after blast-mediated traumatic brain injury.
Heliyon Feb, 2020 | Pubmed ID: 32099918
Phenotypic variance in Calpain-5 retinal degeneration.
American journal of ophthalmology case reports Jun, 2020 | Pubmed ID: 32274441
Proteomic analysis of intermediate uveitis suggests myeloid cell recruitment and implicates IL-23 as a therapeutic target.
American journal of ophthalmology case reports Jun, 2020 | Pubmed ID: 32274442
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Nature communications Jun, 2020 | Pubmed ID: 32561755
Input-output connections of LJA5 prodynorphin neurons.
The Journal of comparative neurology Feb, 2021 | Pubmed ID: 32602558
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
American journal of ophthalmology Jan, 2021 | Pubmed ID: 32707200
Sex Does Not Influence Visual Outcomes After Blast-Mediated Traumatic Brain Injury but IL-1 Pathway Mutations Confer Partial Rescue.
Investigative ophthalmology & visual science Oct, 2020 | Pubmed ID: 33030508
Novel inhibitory brainstem neurons with selective projections to spinal lamina I reduce both pain and itch.
The Journal of comparative neurology Jun, 2021 | Pubmed ID: 33247430
Peptidomimetics Therapeutics for Retinal Disease.
Biomolecules Feb, 2021 | Pubmed ID: 33668179
Neuropathophysiological Mechanisms and Treatment Strategies for Post-traumatic Epilepsy.
Frontiers in molecular neuroscience , 2021 | Pubmed ID: 33708071
Structure-based phylogeny identifies avoralstat as a TMPRSS2 inhibitor that prevents SARS-CoV-2 infection in mice.
The Journal of clinical investigation May, 2021 | Pubmed ID: 33844653
Visual Outcomes in Experimental Rodent Models of Blast-Mediated Traumatic Brain Injury.
Frontiers in molecular neuroscience , 2021 | Pubmed ID: 33935648
Compound heterozygous variants in progressive myoclonus epilepsy.
Journal of neurogenetics , 2021 | Pubmed ID: 33970744
Gene therapy for Rett syndrome.
Genes, brain, and behavior Jan, 2022 | Pubmed ID: 34053173
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
European journal of human genetics : EJHG Aug, 2021 | Pubmed ID: 34092786
Traumatic brain injury results in unique microglial and astrocyte transcriptomes enriched for type I interferon response.
Journal of neuroinflammation Jul, 2021 | Pubmed ID: 34225752
Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force.
Annals of neurology Oct, 2021 | Pubmed ID: 34288089
The opioid antagonist naltrexone decreases seizure-like activity in genetic and chemically induced epilepsy models.
Epilepsia open Sep, 2021 | Pubmed ID: 34664432
Investigation of Cas9 antibodies in the human eye.
Nature communications Feb, 2022 | Pubmed ID: 35217666
Author Correction: Investigation of Cas9 antibodies in the human eye.
Nature communications Apr, 2022 | Pubmed ID: 35414059
Proteomic analysis of autoimmune retinopathy implicates NrCAM as a potential biomarker.
Ophthalmology science Jun, 2022 | Pubmed ID: 35529077
Calpains as mechanistic drivers and therapeutic targets for ocular disease.
Trends in molecular medicine Aug, 2022 | Pubmed ID: 35641420
Lacosamide decreases neonatal seizures without increasing apoptosis.
Epilepsia Dec, 2022 | Pubmed ID: 36168798
Human Brainstem and Cerebellum Atlas: Chemoarchitecture and Cytoarchitecture Paired to MRI.
The Journal of neuroscience : the official journal of the Society for Neuroscience Jan, 2023 | Pubmed ID: 36442999
Downregulation of oxidative stress-mediated glial innate immune response suppresses seizures in a fly epilepsy model.
Cell reports Jan, 2023 | Pubmed ID: 36641750
Fast Detection and Quantification of Interictal Spikes and Seizures in a Rodent Model of Epilepsy Using an Automated Algorithm.
Bio-protocol Mar, 2023 | Pubmed ID: 36968440
Selective neuroimmune modulation by type I interferon drives neuropathology and neurologic dysfunction following traumatic brain injury.
Acta neuropathologica communications Aug, 2023 | Pubmed ID: 37596685
Thiago Cabral*,1,2,7,8,
Marcus A. Toral*,3,4,
Gabriel Velez3,4,
James E. DiCarlo1,2,
Anuradha M. Gore3,
MaryAnn Mahajan3,
Stephen H. Tsang1,2,
Alexander G. Bassuk5,6,
Vinit B. Mahajan3,9
1Barbara & Donald Jonas Stem Cell Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University,
2Edward S. Harkness Eye Institute, New York-Presbyterian Hospital,
3Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University,
4Medical Scientist Training Program, University of Iowa,
5Department of Pediatrics, University of Iowa,
6Department of Neurology, University of Iowa,
7Department of Ophthalmology, Federal University of Sao Paulo (UNIFESP),
8Department of Ophthalmology, Federal University of EspÍrito Santo (UFES),
9, Palo Alto Veterans Administration, Palo Alto, CA
Julian Wolf1,2,
Teja Chemudupati1,2,
Aarushi Kumar1,2,
Ditte K. Rasmussen1,2,
Karen M. Wai2,
Robert T. Chang2,
Artis A. Montague2,
Peter H. Tang3,4,
Alexander G. Bassuk5,6,7,
Antoine Dufour8,9,
Prithvi Mruthrunjaya2,
Vinit B. Mahajan1,2,10
1Molecular Surgery Laboratory, Stanford University,
2Department of Ophthalmology, Byers Eye Institute, Stanford University,
3Department of Ophthalmology and Visual Neurosciences, University of Minnesota,
4, Retina Consultants of Minnesota,
5Department of Pediatrics, University of Iowa,
6Department of Neurology, University of Iowa,
7The Iowa Neuroscience Institute (INI), University of Iowa,
8Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary,
9Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary,
10, Veterans Affairs Palo Alto Health Care System
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