Header Logo

Search Result Details

This page shows the details of why an item matched the keywords from your search.
One or more keywords matched the following properties of Ginns, Edward

Our research is directed toward identifying, understanding and reversing the consequences of gene mutations on protein and cell function in inherited human disease. Cell biological and molecular genetic approaches are used in conjunction with clinical studies to obtain a better understanding of gene expression and the molecular pathophysiology underlying selected Mendelian and complex trait diseases. To accomplish this objective, we study gene variation and function in unique human genetic isolates, inbred animal models and families with inherited developmental disorders. Research projects reflect a “bench to bedside” approach, combining efforts from interdisciplinary investigations on humans and animal models. Current study areas include the link between Gaucher disease and parkinsonism, development of novel gene and replacement therapies for Gaucher disease, and the genetics of selected psychiatric disorders, including bipolar affective disorder in the Old Order Amish and obsessive compulsive disorder in domestic animals. 

Gaucher Disease Therapy

This research area focusus on the development of new oral biologics for treating Gaucher Disease. Gaucher Disease a lysosomal storage disorder caused by inherited deficiencies of the enzyme glucocerebrosidase (GBA). Decreases in functioning GBA levels lead to lipid accumulation in the spleen, liver, brain and bone marrow that cause a wide range of clinical manifestations. There are 3 different types of this disease based on the presence or absence of early onset brain involvement. Type 1 is the most common form of Gaucher disease with no neuropathic phenotypes and accounts for more than 90% of all cases. Type 2 is rare and involves severe neurological (brain stem) abnormalities. It is usually fatal within the first 2 years, and it is currently untreatable because of the severe, irreversible brain damage. Type 3 shows similar symptoms as type 1 as well as neurological involvement.

Currently, available treatments for Gaucher disease include enzyme replacement (ERT) and substrate reduction therapies. ERT involves receiving intravenous (IV) infusions about every 2 weeks and can cost up to $200,000 or more each year.

This research will use orally administered glucan particles containing DNA to produce increased levels of functioning GBA. Success of the treatments will be determined by following GBA levels and biomarkers in various tissues of the mice during treatment. An increase in GBA should also lead to a decrease in the lipid glucocerebroside (GL1) and glucosylsphingosine (lyso-GL1).

Gaucher Disease Linked Parkinsons

We are using mouse models of Gaucher disesase to (i) identify novel molecular abnormalities impacting pathophysiology of  Gaucher related PD and sporadic PD, (ii) carry out longitudinal studies of PD progression and biomarker discovery, and (iii) enable testing of novel strategies for treatment, intervention, and potentially even prevention of Gaucher disease and Parkinsons.

Recent clinical, epidemiological and experimental studies have confirmed a strong connection between Parkinson’s disease (PD) and individuals carrying a glucocerebrosidase gene (GBA) Gaucher mutation.  We are building upon our published in-vivo findings of altered nigrostriatal pathway dopaminergic neurotransmission in the conduritol-beta-epoxide (CBE) pharmacological Gaucher mouse model of reduced GBA enzyme activity.  This is the first description in an animal model to recapitulate the synaptic dysfunction reported in human striatal imaging studies of Gaucher mutation carriers asymptomatic for Parkinsonism.  CBE administration produced markedly reduced evoked dopamine release and post-synaptic density size.  These synaptic abnormalities were accompanied by robust elevation of neuroinflammatory markers and alpha-synuclein (a-syn) in nigrostriatal tissue.  To further address the unmet need for better understanding and treatment of bone and brain involvement in Gaucher disease, and more specifically as models for the study of Gaucher-related Parkinsonism and sporadic Parkinson’s disease, we are using two long-lived transgenic mouse models of Gaucher disease bearing the L444P or the R463C point mutations frequently found in Gaucher patients.  These aged homozygous Gaucher transgenic mutant mice have a lifespan of from 1-2 years and show abnormal a-syn accumulation and astroglial activation in the striatum.


Person ID 340
One or more keywords matched the following items that are connected to Ginns, Edward
Item TypeName
Academic Article A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish.
Academic Article Structure and organization of the human metaxin gene (MTX) and pseudogene.
Academic Article The inheritance of bipolar affective disorder: abundant genes coming together.
Academic Article Splenectomy in Gaucher disease: new management dilemmas.
Academic Article A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique.
Academic Article Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.
Academic Article Monitoring the CNS pathology in aspartylglucosaminuria mice.
Academic Article Targeted reduction of oxytocin expression provides insights into its physiological roles.
Academic Article Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia?
Academic Article Apolipoprotein E alleles in childhood-onset schizophrenia.
Academic Article Trypsin bound to sephadex beads. A tool for neuronal cell dissociation.
Academic Article Cells isolated from trypsin-treated brain contain trypsin.
Academic Article Update on the search for DNA markers linked to manic-depressive illness in the Old Order Amish.
Academic Article Deficiency in mouse oxytocin prevents milk ejection, but not fertility or parturition.
Academic Article Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Academic Article Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
Academic Article Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
Academic Article Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis.
Academic Article Gaucher's disease: the best laid schemes of mice and men.
Academic Article Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".
Academic Article Linkage analysis of juvenile parkinsonism to tyrosine hydroxylase gene locus on chromosome 11.
Academic Article Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
Academic Article Prolonged ethanol inhalation decreases gamma-aminobutyric acidA receptor alpha subunit mRNAs in the rat cerebral cortex.
Academic Article HLA antigens in childhood onset schizophrenia.
Academic Article Oxytocin and milk removal are required for post-partum mammary-gland development.
Academic Article Association of an X-chromosome dodecamer insertional variant allele with mental retardation.
Academic Article Large CAG/CTG repeats are associated with childhood-onset schizophrenia.
Academic Article Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses.
Academic Article A genome-wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish.
Academic Article Anemic Gaucher patients with elevated endogenous erythropoietin levels may not respond to recombinant erythropoietin therapy.
Academic Article Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
Academic Article DNA mutation analysis of Gaucher patients.
Academic Article Genetically altered and defined cell lines for transplantation in animal models of Parkinson's disease.
Academic Article Brain grafts and Parkinson's disease.
Academic Article Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.
Academic Article Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.
Academic Article Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish.
Academic Article Gaucher patients with oculomotor abnormalities do not have a unique genotype.
Academic Article Glutamic acid decarboxylase mRNA in rat brain: regional distribution and effects of intrastriatal kainic acid.
Academic Article Gender-specific reduction of estrogen-sensitive small RNA, miR-30b, in subjects with schizophrenia.
Academic Article Neuron-specific enolase and its mRNA are highly expressed in large congenital nevi: a study using immunocytochemistry, biochemical assay, and in situ hybridization.
Academic Article Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish.
Academic Article Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
Academic Article Human tyrosine hydroxylase (TH) genomic fragment (pHGTH4) identifies a PstI polymorphism.
Academic Article A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
Academic Article The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
Academic Article Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase.
Academic Article Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
Academic Article The molecular biology of Gaucher disease and the potential for gene therapy.
Academic Article Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts.
Academic Article Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry.
Academic Article Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.
Academic Article GM1 ganglioside concentration in the cerebrospinal fluid of neonates and children.
Academic Article Bone-marrow transplantation in severe Gaucher's disease.
Academic Article A radioassay for GM1 ganglioside concentration in cerebrospinal fluid.
Academic Article Glucocerebroside-beta-glucosidase isozymes.
Academic Article A new group of glucocerebrosidase isozymes found in human white blood cells.
Academic Article Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.
Academic Article Responses of the mouse to microwave radiation during estrous cycle and pregnancy.
Academic Article DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Academic Article Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
Academic Article Treatment of Gaucher's disease.
Academic Article DNA targeting of rhinal cortex D2 receptor protein reversibly blocks learning of cues that predict reward.
Academic Article Joint multi-population analysis for genetic linkage of bipolar disorder or "wellness" to chromosome 4p.
Academic Article Mutations in Gaucher's disease detected by MspI.
Academic Article Therapy for Gaucher disease: don't stop thinking about tomorrow.
Academic Article Molecular determinants of dysregulated GABAergic gene expression in the prefrontal cortex of subjects with schizophrenia.
Academic Article Effect of ethacrynic acid on the sodium- and potassium-activated adenosine triphosphatase activity and expression in Old Order Amish bipolar individuals.
Academic Article A canine chromosome 7 locus confers compulsive disorder susceptibility.
Academic Article Regional distribution of the GABAA/benzodiazepine receptor (alpha subunit) mRNA in rat brain.
Academic Article Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.
Academic Article Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.
Academic Article Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector.
Academic Article Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation.
Academic Article Bone marrow transplantation in Gaucher disease.
Academic Article Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts.
Academic Article Monoclonal antibodies against human beta-glucocerebrosidase.
Academic Article Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease.
Academic Article Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
Academic Article Prospects for enzyme replacement therapy in Gaucher disease.
Academic Article Structure and organization of the human thrombospondin 3 gene (THBS3).
Academic Article Genetic basis of Gaucher disease.
Academic Article Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.
Academic Article Direct sequencing of trinucleotide repeats from cosmid genomic DNA template.
Academic Article A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
Academic Article Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins).
Concept Body Mass Index
Concept Tandem Mass Spectrometry
Concept Diagnosis, Differential
Concept Cross Reactions
Concept Congenital Abnormalities
Concept Protein Binding
Concept Karyotyping
Concept Disease Models, Animal
Concept Fibroblasts
Concept Hydrops Fetalis
Concept DNA Methylation
Concept Colorimetry
Concept Nutrition Surveys
Concept Apoptosis
Concept Brain Tissue Transplantation
Concept Sequence Analysis, DNA
Concept Central Nervous System
Concept Supraoptic Nucleus
Concept Methionine
Concept Genetic Linkage
Concept Microscopy, Electron
Concept Prefrontal Cortex
Concept Pituitary Gland, Posterior
Concept Compulsive Behavior
Concept Genomic Library
Concept Ouabain
Concept Myelin Sheath
Concept Protein Processing, Post-Translational
Concept Genetic Association Studies
Concept Child Behavior
Concept Pedigree
Concept Humans
Concept Cerebellum
Concept Restriction Mapping
Concept Multigene Family
Concept DiGeorge Syndrome
Concept Brain
Concept Aged, 80 and over
Concept Chromosomes, Human, Pair 17
Concept beta-Glucosidase
Concept Apolipoproteins E
Concept Introns
Concept Antigens, Polyomavirus Transforming
Concept Connective Tissue
Concept HeLa Cells
Concept Paraventricular Hypothalamic Nucleus
Concept Erythropoietin
Concept Heterozygote
Concept Oncogenes
Concept Genetic Therapy
Concept Prolactin
Concept Rats, Inbred Strains
Concept Microbial Collagenase
Concept Deoxyribonucleases, Type II Site-Specific
Concept Magnetic Resonance Imaging
Concept Finland
Concept Age of Onset
Concept Acetylglucosamine
Concept Adrenal Gland Neoplasms
Concept Glycosylation
Concept Peptide Elongation Factor 1
Concept Dinucleotide Repeats
Concept Mice, Inbred BALB C
Concept DNA, Complementary
Concept Fluorescent Antibody Technique
Concept Chromosomes, Bacterial
Concept Cadherins
Concept Sensitivity and Specificity
Concept Cell Adhesion Molecules
Concept Injections
Concept HLA-B Antigens
Concept Trinucleotide Repeats
Concept Sodium-Potassium-Exchanging ATPase
Concept Treatment Outcome
Concept Aspartylglucosylaminase
Concept Golgi Apparatus
Concept Fragile X Syndrome
Concept Bone Marrow Transplantation
Concept Genes, Dominant
Concept Cricetinae
Concept California
Concept Chromosome Banding
Concept Lysosomes
Concept Chromosome Breakage
Concept Genetic Testing
Concept Dogs
Concept Endoplasmic Reticulum
Concept Amino Acid Substitution
Concept Blotting, Northern
Concept Hypothalamus
Concept Immunochemistry
Concept Cyclohexenes
Concept Autistic Disorder
Concept Aged
Concept Genes
Concept Genetic Code
Concept Ellis-Van Creveld Syndrome
Concept Labor, Obstetric
Concept Psychosine
Concept Monitoring, Physiologic
Concept Synaptic Transmission
Concept Statistics as Topic
Concept Adenosine Triphosphate
Concept Amino Acid Sequence
Concept Microscopy, Phase-Contrast
Concept Chromosomes, Human
Concept Mice, Hairless
Concept Parietal Lobe
Concept Mice, Knockout
Concept Cohort Studies
Concept Calcium
Concept Inositol
Concept Chromosomes, Human, Pair 4
Concept Twin Studies as Topic
Concept DNA Copy Number Variations
Concept Blotting, Western
Concept Tourette Syndrome
Concept Iodine Radioisotopes
Concept Parvalbumins
Concept Translocation, Genetic
Concept Cricetulus
Concept Genetic Predisposition to Disease
Concept Pneumonia, Viral
Concept Biomarkers
Concept Biopsy
Concept HLA-D Antigens
Concept S100 Proteins
Concept Sphingosine
Concept Chromatography, Liquid
Concept Immunoprecipitation
Concept Aggression
Concept Homozygote
Concept Genetic Techniques
Concept Chromatin
Concept Radioimmunoassay
Concept Chromosomes, Human, Pair 7
Concept Genetic Markers
Concept Mice
Concept Anemia
Concept Forecasting
Concept Cell Line, Transformed
Concept Chromosomes, Human, Pair 6
Concept Pseudogenes
Concept Genetic Variation
Concept Statistics, Nonparametric
Concept Histocytochemistry
Concept Charcot-Marie-Tooth Disease
Concept Australia
Concept gamma-Aminobutyric Acid
Concept Germ-Line Mutation
Concept Isoenzymes
Concept Thalamus
Concept Transcription, Genetic
Concept Fetal Tissue Transplantation
Concept Brain Chemistry
Concept Leukocytes
Concept Isoelectric Focusing
Concept Isoelectric Point
Concept Electroencephalography
Concept Chromatography, High Pressure Liquid
Concept Conserved Sequence
Concept Dopamine
Concept Behavior, Animal
Concept Attention Deficit Disorder with Hyperactivity
Concept Exons
Concept Cerebral Cortex
Concept Cattle
Concept Mammary Glands, Animal
Concept Transgenes
Concept Intelligence Tests
Concept Evoked Potentials, Motor
Concept Genes, ras
Concept Embryonic and Fetal Development
Concept Mice, Inbred C57BL
Concept Regulatory Sequences, Nucleic Acid
Concept Mucolipidoses
Concept Embryo Loss
Concept Repetitive Sequences, Nucleic Acid
Concept Indians, North American
Concept Gene Expression Regulation
Concept Chromosomes, Mammalian
Concept Mutation
Concept Metabolism, Inborn Errors
Concept Liver Neoplasms
Concept Mice, Transgenic
Concept Cell Separation
Concept Chromosome Disorders
Concept Social Isolation
Concept Phosphopyruvate Hydratase
Concept Antigens, CD
Concept Chromosomes, Human, Pair 22
Concept Genetic Heterogeneity
Concept Signal Transduction
Concept Monocytes
Concept Microwaves
Concept DNA Mutational Analysis
Concept Nucleic Acid Conformation
Concept Linkage Disequilibrium
Concept CD24 Antigen
Concept Membrane Glycoproteins
Concept Somatostatin
Concept DNA, Viral
Concept Receptors, Dopamine D2
Concept Hemorrhagic Disorders
Concept Ethacrynic Acid
Concept Glucosylceramides
Concept Bone Marrow
Concept Antipsychotic Agents
Concept Chromosomes, Human, Pair 15
Concept Genetic Engineering
Concept Macaca mulatta
Concept Electrophoresis, Polyacrylamide Gel
Concept G(M1) Ganglioside
Concept Lymphocytes
Concept Thrombospondins
Concept Microscopy, Fluorescence
Concept DNA, Recombinant
Concept Hydroxychloroquine
Concept Hydrocephalus
Concept Nucleic Acid Hybridization
Concept Prenatal Diagnosis
Concept Parents
Concept Barbados
Concept Synapses
Concept Chromosomes, Human, Pair 11
Concept Gestational Age
Concept Antibodies, Monoclonal
Concept Chymotrypsin
Concept Nuclear Family
Concept Epigenesis, Genetic
Concept Aspartylglucosaminuria
Concept Kainic Acid
Concept Contig Mapping
Concept Trinucleotide Repeat Expansion
Concept Recombinant Fusion Proteins
Concept Gold
Concept Models, Genetic
Concept Chromosomes, Human, Pair 1
Concept Lod Score
Concept Cost-Benefit Analysis
Concept Glycosphingolipids
Concept Sequence Alignment
Concept Polymorphism, Restriction Fragment Length
Concept Alzheimer Disease
Concept Glutamate Decarboxylase
Concept Entorhinal Cortex
Concept Genome, Human
Concept Gene Targeting
Concept Carcinoma, Hepatocellular
Concept Genetic Counseling
Concept Genotype
Concept Polymorphism, Genetic
Concept Dementia
Concept Gene Library
Concept Radioisotope Dilution Technique
Concept Prevalence
Concept Case-Control Studies
Concept Pennsylvania
Concept Mice, Inbred Strains
Concept Insecta
Concept beta-N-Acetylhexosaminidases
Concept Fluorescence
Concept Milk, Human
Concept HLA-A Antigens
Concept Stem Cell Transplantation
Concept Rats
Concept Gaucher Disease
Concept Chromosome Mapping
Concept Sequence Homology, Amino Acid
Concept Collagen
Concept Ethanol
Concept Autoradiography
Concept Chromosomes, Human, 1-3
Concept Substrate Specificity
Concept Genome-Wide Association Study
Concept Enzyme Replacement Therapy
Concept Protein Sorting Signals
Concept Chromosome Aberrations
Concept Tyrosine 3-Monooxygenase
Concept HLA Antigens
Concept Enzyme Inhibitors
Concept Saccades
Concept Lysosomal Storage Diseases
Concept Ichthyosis
Concept Receptors, Dopamine D4
Concept Transfection
Concept Point Mutation
Concept Middle Aged
Concept Israel
Concept Polymerase Chain Reaction
Concept Hippocampus
Concept Decision Trees
Concept United States
Concept Corpus Striatum
Concept Administration, Inhalation
Concept Parkinson Disease
Concept Gene Deletion
Concept Risk Assessment
Concept In Situ Hybridization, Fluorescence
Concept Trypsin
Concept Genetic Vectors
Concept Estrus
Concept Substantia Nigra
Concept Receptors, GABA-A
Concept Mutation, Missense
Concept Risk
Concept Gangliosides
Concept MicroRNAs
Concept Risk Factors
Concept Young Adult
Concept Promoter Regions, Genetic
Concept Base Sequence
Concept Alleles
Concept Genes, Recessive
Concept Follow-Up Studies
Concept Cloning, Molecular
Concept Amyloid beta-Peptides
Concept Immunosorbent Techniques
Concept Immunohistochemistry
Concept Mice, Mutant Strains
Concept Brain-Derived Neurotrophic Factor
Concept X Chromosome
Concept DNA Transposable Elements
Concept Chromosomes, Human, Pair 13
Concept Immunoblotting
Concept Estrogen Receptor alpha
Concept Phosphorylation
Concept Cosmids
Academic Article Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling.
Academic Article Neuroinflammation and a-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
Academic Article Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder.
Academic Article DNA Methylation Signatures of Early Childhood Malnutrition Associated With Impairments in Attention and Cognition.
Academic Article Glucocerebrosidase haploinsufficiency in A53T a-synuclein mice impacts disease onset and course.
Academic Article Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.
Academic Article Author Correction: Applications and efficiencies of the first cat 63?K DNA array.
Academic Article High-Throughput Mass Spectrometry Assay for Quantifying ?-Amyloid 40 and 42 in Cerebrospinal Fluid.
Academic Article Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Academic Article Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown.
Concept Betacoronavirus
Concept HEK293 Cells
Concept Haploinsufficiency
Concept High-Throughput Nucleotide Sequencing
Concept Amish
Concept Dopamine D2 Receptor Antagonists
Concept S100 Calcium Binding Protein beta Subunit
Search Criteria
  • Chromosomes Human
  • 1
  • 3