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Edward I Ginns MD, PhD

InstitutionUMass Chan Medical School
AddressUMass Chan Medical School
55 Lake Avenue North, 5th Floor Neurology
Worcester MA 01655
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    Other Positions
    InstitutionT.H. Chan School of Medicine

    InstitutionT.H. Chan School of Medicine
    DepartmentNeuroNexus Institute

    InstitutionT.H. Chan School of Medicine

    InstitutionT.H. Chan School of Medicine

    InstitutionT.H. Chan School of Medicine
    DivisionPsychiatry Research

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentInterdisciplinary Graduate Program

    Collapse Biography 
    Collapse education and training
    Rensselaer Polytechnic Institute, Troy, NY, United StatesBSChemistry
    Rochester Institute of Technology, Rochester, NY, United StatesBA
    Johns Hopkins University School of Medicine, Baltimore, MD, United StatesMD
    Rensselaer Polytechnic Institute, Troy, NY, United StatesPHDPhysical Chemistry
    Albert Einstein College of Medicine, Bronx, NY, United StatesNeurology Residency
    National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, United StatesDevelopmental and Metabolic Neurology

    Collapse Overview 
    Collapse Summary
    Clinical management of patients with Gaucher disease and Fabry disease; translational research on lysosomal disorders; development of novel gene and replacement therapies for Gaucher disease; studies on the link between Gaucher disease and parkinsonism;
    Collapse overview

    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.


    Collapse Rotation Projects

    Potential Rotation Projects

    Development of an Osteoprotegerin Gene Therapy to Increase Bone Density

    An orally administered gene therapy using macrophage targeted yeast cell wall particles containing DNA encoding human osteoprotegerin, OPG, is being developed to increase bone density and quality by reducing the extent of osteoclast mediated bone resorption. Low bone mass such as osteoporosis is a major health risk for millions of women and men, predisposing individuals to bone fractures, as well as sequelae including stroke and an accelerated decrease in quality of life. Administration of OPG improves the clinical manifestations of bone loss, but current formulations of OPG proteins must be recombinantly produced and intravenously administered. It is anticipated that the improved delivery of OPG to macrophages and osteoclasts in bone by this gene therapy approach will produce increased bone density as a result of reduced bone resorption. The proposed studies will assess the in-vivo impact of this therapeutic approach to improve the skeletal manifestations of low bone density and excessive bone resorption.

    Development of an Orally Administered Gene Therapy for Gaucher Disease

    An orally administered gene therapy is being been developed as a next generation therapeutic to restore normal enzymatic activity in Gaucher disease, the most common lysosomal storage disorder. This approach uses yeast cell wall particles containing DNA or RNA encoding human glucocerebrosidase to restore normal enzyme in-vivo in Gaucher mice. The skeletal and central nervous system complications of Gaucher disease still present an enormous challenge for current enzyme and gene replacement therapies. Despite the successes of gene therapy strategies in animal models, the clinical trials conducted to date have generally resulted in low levels of gene expression. Studies will determine the extent of improvement in enzyme levels in macrophages and tissues of treated Gaucher mice, the extent of reversal of lipid storage and tissue pathology and impact on survival. We anticipate that this approach will provide improved delivery of human glucocerebrosidase to many tissues, including bone. If macrophages containing human glucocerebrosidase migrate into brain, the resulting increased enzyme levels could provide clinical benefit for the neurological manifestations of Gaucher disease. The successful development of this therapeutic strategy should provide a safer, more efficient and cost effective treatment for patients with Gaucher disease, as well as providing a prototype of therapy to benefit those having a wide range of other lysosomal diseases.

    Identification of Gene Mutations Causing Human Disease

    Genetic studies are carried out to obtain a better understanding of the molecular basis of human diseases by identifying correlations between molecular variations and clinical manifestations. Examples of clinical research projects with molecular components include: psychiatric disorders (manic-depressive illness; schizophrenia); Gaucher disease and other inherited metabolic disorders; and, Ellis van-Creveld dwarfism.

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Ginns EI, Ryan E, Sidransky E. Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown. Mol Genet Metab. 2021 04; 132(4):213-214. PMID: 33676819.
      Citations: 5     Fields:    Translation:Humans
    2. Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Mol Genet Metab. 2020 07; 130(3):164-169. PMID: 32471800.
      Citations: 12     Fields:    Translation:HumansCellsPHPublic Health
    3. Weber DM, Tran D, Goldman SM, Taylor SW, Ginns EI, Lagier RJ, Rissman RA, Brewer JB, Clarke NJ. High-Throughput Mass Spectrometry Assay for Quantifying ?-Amyloid 40 and 42 in Cerebrospinal Fluid. Clin Chem. 2019 12; 65(12):1572-1580. PMID: 31628138.
      Citations: 8     Fields:    Translation:Humans
    4. Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Ginns EI, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA. Author Correction: Applications and efficiencies of the first cat 63?K DNA array. Sci Rep. 2019 Mar 12; 9(1):4664. PMID: 30858384.
      Citations:    Fields:    
    5. Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Ginns EI, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA. Author Correction: Applications and efficiencies of the first cat 63K DNA array. Sci Rep. 2018 Jun 04; 8(1):8746. PMID: 29867197.
      Citations:    Fields:    
    6. Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Ginns EI, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA. Applications and efficiencies of the first cat 63K DNA array. Sci Rep. 2018 05 04; 8(1):7024. PMID: 29728693.
      Citations: 24     Fields:    
    7. Li Y, Anderson LA, Ginns EI, Devlin JJ. Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability. Mol Diagn Ther. 2018 02; 22(1):129-138. PMID: 29209992.
      Citations: 11     Fields:    Translation:HumansCells
    8. Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E. Glucocerebrosidase haploinsufficiency in A53T a-synuclein mice impacts disease onset and course. Mol Genet Metab. 2017 12; 122(4):198-208. PMID: 29173981.
      Citations: 16     Fields:    Translation:HumansAnimals
    9. Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W, Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS, Pavan WJ, Sidransky E. A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease. Dis Model Mech. 2016 07 01; 9(7):769-78. PMID: 27482815.
      Citations: 19     Fields:    Translation:AnimalsCells
    10. Peter CJ, Fischer LK, Kundakovic M, Garg P, Jakovcevski M, Dincer A, Amaral AC, Ginns EI, Galdzicka M, Bryce CP, Ratner C, Waber DP, Mokler D, Medford G, Champagne FA, Rosene DL, McGaughy JA, Sharp AJ, Galler JR, Akbarian S. DNA Methylation Signatures of Early Childhood Malnutrition Associated With Impairments in Attention and Cognition. Biol Psychiatry. 2016 11 15; 80(10):765-774. PMID: 27184921.
      Citations: 61     Fields:    Translation:HumansAnimalsCells
    11. Ginns EI, Galdzicka M, Elston RC, Song YE, Paul SM, Egeland JA. Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder. Mol Psychiatry. 2015 Oct; 20(10):1212-8. PMID: 25311364.
      Citations: 5     Fields:    Translation:Humans
    12. Ginns EI, Mak SK, Ko N, Karlgren J, Akbarian S, Chou VP, Guo Y, Lim A, Samuelsson S, LaMarca ML, Vazquez-DeRose J, Manning-Bog AB. Neuroinflammation and a-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction. Mol Genet Metab. 2014 Feb; 111(2):152-62. PMID: 24388731.
      Citations: 56     Fields:    Translation:HumansAnimalsCells
    13. Moya PR, Dodman NH, Timpano KR, Rubenstein LM, Rana Z, Fried RL, Reichardt LF, Heiman GA, Tischfield JA, King RA, Galdzicka M, Ginns EI, Wendland JR. Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes. Eur J Hum Genet. 2013 Aug; 21(8):850-4. PMID: 23321619.
      Citations: 24     Fields:    Translation:HumansCells
    14. Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E. Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. Mol Genet Metab. 2011 Dec; 104(4):631-6. PMID: 21982627.
      Citations: 10     Fields:    Translation:Humans
    15. Mellios N, Galdzicka M, Ginns E, Baker SP, Rogaev E, Xu J, Akbarian S. Gender-specific reduction of estrogen-sensitive small RNA, miR-30b, in subjects with schizophrenia. Schizophr Bull. 2012 May; 38(3):433-43. PMID: 20732949.
      Citations: 38     Fields:    Translation:HumansAnimals
    16. Dodman NH, Karlsson EK, Moon-Fanelli A, Galdzicka M, Perloski M, Shuster L, Lindblad-Toh K, Ginns EI. A canine chromosome 7 locus confers compulsive disorder susceptibility. Mol Psychiatry. 2010 Jan; 15(1):8-10. PMID: 20029408.
      Citations: 51     Fields:    Translation:AnimalsCells
    17. Huff MO, Li XP, Ginns E, El-Mallakh RS. Effect of ethacrynic acid on the sodium- and potassium-activated adenosine triphosphatase activity and expression in Old Order Amish bipolar individuals. J Affect Disord. 2010 Jun; 123(1-3):303-7. PMID: 19880188.
      Citations: 7     Fields:    Translation:HumansCells
    18. Mellios N, Huang HS, Baker SP, Galdzicka M, Ginns E, Akbarian S. Molecular determinants of dysregulated GABAergic gene expression in the prefrontal cortex of subjects with schizophrenia. Biol Psychiatry. 2009 Jun 15; 65(12):1006-14. PMID: 19121517.
      Citations: 135     Fields:    Translation:HumansAnimalsCells
    19. Sidransky E, LaMarca ME, Ginns EI. Therapy for Gaucher disease: don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb; 90(2):122-5. PMID: 17084653.
      Citations: 7     Fields:    Translation:Humans
    20. Visscher PM, Haley CS, Ewald H, Mors O, Egeland J, Thiel B, Ginns E, Muir W, Blackwood DH. Joint multi-population analysis for genetic linkage of bipolar disorder or "wellness" to chromosome 4p. Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 05; 133B(1):18-24. PMID: 15562426.
      Citations: 2     Fields:    Translation:HumansCells
    21. Liu Z, Richmond BJ, Murray EA, Saunders RC, Steenrod S, Stubblefield BK, Montague DM, Ginns EI. DNA targeting of rhinal cortex D2 receptor protein reversibly blocks learning of cues that predict reward. Proc Natl Acad Sci U S A. 2004 Aug 17; 101(33):12336-41. PMID: 15302926.
      Citations: 33     Fields:    Translation:Animals
    22. Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002 Dec; 77(4):291-5. PMID: 12468274.
      Citations: 47     Fields:    Translation:Humans
    23. Philibert RA, Cheung D, Welsh N, Damschroder-Williams P, Thiel B, Ginns EI, Gershenfeld HK. Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish. Am J Med Genet. 2001 Apr 08; 105(3):291-4. PMID: 11353452.
      Citations: 3     Fields:    Translation:Humans
    24. Yan WL, Guan XY, Green ED, Nicolson R, Yap TK, Zhang J, Jacobsen LK, Krasnewich DM, Kumra S, Lenane MC, Gochman P, Damschroder-Williams PJ, Esterling LE, Long RT, Martin BM, Sidransky E, Rapoport JL, Ginns EI. Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21. Am J Med Genet. 2000 Dec 04; 96(6):749-53. PMID: 11121174.
      Citations: 7     Fields:    Translation:HumansCells
    25. Stone DL, Tayebi N, Coble C, Ginns EI, Sidransky E. Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease. J Med Genet. 2000 Nov; 37(11):E40. PMID: 11073549.
      Citations: 3     Fields:    Translation:Humans
    26. Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res. 2000 Aug; 48(2):233-7. PMID: 10926300.
      Citations: 37     Fields:    Translation:HumansAnimals
    27. Fernandez T, Yan WL, Hamburger S, Rapoport JL, Saunders AM, Schapiro M, Ginns EI, Sidransky E. Apolipoprotein E alleles in childhood-onset schizophrenia. Am J Med Genet. 1999 Apr 16; 88(2):211-3. PMID: 10206244.
      Citations: 2     Fields:    Translation:Humans
    28. Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Hum Genet. 1999 Apr; 104(4):293-300. PMID: 10369158.
      Citations: 6     Fields:    Translation:HumansCells
    29. Moriniere S, Saada C, Holbert S, Sidransky E, Galat A, Ginns E, Rapoport JL, Neri C. Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia? Mol Psychiatry. 1999 Jan; 4(1):58-63. PMID: 10089010.
      Citations: 1     Fields:    Translation:HumansCells
    30. Ginns EI, St Jean P, Philibert RA, Galdzicka M, Damschroder-Williams P, Thiel B, Long RT, Ingraham LJ, Dalwaldi H, Murray MA, Ehlert M, Paul S, Remortel BG, Patel AP, Anderson MC, Shaio C, Lau E, Dymarskaia I, Martin BM, Stubblefield B, Falls KM, Carulli JP, Keith TP, Fann CS, Lacy LG, Allen CR, Hostetter AM, Elston RC, Schork NJ, Egeland JA, Paul SM. 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. Proc Natl Acad Sci U S A. 1998 Dec 22; 95(26):15531-6. PMID: 9861003.
      Citations: 24     Fields:    Translation:HumansCells
    31. Tenhunen K, Uusitalo A, Autti T, Joensuu R, Kettunen M, Kauppinen RA, Ikonen S, LaMarca ME, Haltia M, Ginns EI, Jalanko A, Peltonen L. Monitoring the CNS pathology in aspartylglucosaminuria mice. J Neuropathol Exp Neurol. 1998 Dec; 57(12):1154-63. PMID: 9862638.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    32. Castellanos FX, Lau E, Tayebi N, Lee P, Long RE, Giedd JN, Sharp W, Marsh WL, Walter JM, Hamburger SD, Ginns EI, Rapoport JL, Sidransky E. Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses. Mol Psychiatry. 1998 Sep; 3(5):431-4. PMID: 9774777.
      Citations: 18     Fields:    Translation:HumansCells
    33. Philibert RA, King BH, Winfield S, Cook EH, Lee YH, Stubblefield B, Damschroder-Williams P, Dea C, Palotie A, Tengstrom C, Martin BM, Ginns EI. Association of an X-chromosome dodecamer insertional variant allele with mental retardation. Mol Psychiatry. 1998 Jul; 3(4):303-9. PMID: 9702738.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    34. Burgess CE, Lindblad K, Sidransky E, Yuan QP, Long RT, Breschel T, Ross CA, McInnis M, Lee P, Ginns EI, Lenane M, Kumra S, Jacobsen L, Rapoport JL, Schalling M. Large CAG/CTG repeats are associated with childhood-onset schizophrenia. Mol Psychiatry. 1998 Jul; 3(4):321-7. PMID: 9702740.
      Citations: 4     Fields:    Translation:HumansCells
    35. Sidransky E, Burgess C, Ikeuchi T, Lindblad K, Long RT, Philibert RA, Rapoport J, Schalling M, Tsuji S, Ginns EI. A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique. Am J Hum Genet. 1998 Jun; 62(6):1548-51. PMID: 9585604.
      Citations: 3     Fields:    Translation:HumansCells
    36. Jacobsen LK, Mittleman BB, Kumra S, Lenane MC, Barracchini KC, Adams S, Simonis T, Lee PR, Long RT, Sharp W, Sidransky E, Ginns EI, Rapoport JL. HLA antigens in childhood onset schizophrenia. Psychiatry Res. 1998 May 08; 78(3):123-32. PMID: 9657416.
      Citations: 1     Fields:    Translation:Humans
    37. Krasnewich D, Dietrich K, Bauer L, Ginns EI, Sidransky E, Hill S. Splenectomy in Gaucher disease: new management dilemmas. Blood. 1998 Apr 15; 91(8):3085-7. PMID: 9531624.
      Citations: 6     Fields:    Translation:Humans
    38. Yan W, Jacobsen LK, Krasnewich DM, Guan XY, Lenane MC, Paul SP, Dalwadi HN, Zhang H, Long RT, Kumra S, Martin BM, Scambler PJ, Trent JM, Sidransky E, Ginns EI, Rapoport JL. Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired". Am J Med Genet. 1998 Feb 07; 81(1):41-3. PMID: 9514586.
      Citations: 17     Fields:    Translation:HumansCells
    39. Jalanko A, Tenhunen K, McKinney CE, LaMarca ME, Rapola J, Autti T, Joensuu R, Manninen T, Sipil? I, Ikonen S, Riekkinen P, Ginns EI, Peltonen L. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet. 1998 Feb; 7(2):265-72. PMID: 9425233.
      Citations: 8     Fields:    Translation:HumansAnimals
    40. Kyriakides TR, Zhu YH, Smith LT, Bain SD, Yang Z, Lin MT, Danielson KG, Iozzo RV, LaMarca M, McKinney CE, Ginns EI, Bornstein P. Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. J Cell Biol. 1998 Jan 26; 140(2):419-30. PMID: 9442117.
      Citations: 170     Fields:    Translation:Animals
    41. Young WS, Shepard E, DeVries AC, Zimmer A, LaMarca ME, Ginns EI, Amico J, Nelson RJ, Hennighausen L, Wagner KU. Targeted reduction of oxytocin expression provides insights into its physiological roles. Adv Exp Med Biol. 1998; 449:231-40. PMID: 10026810.
      Citations: 11     Fields:    Translation:Animals
    42. Sidransky E, Ginns EI. Gaucher's disease: the best laid schemes of mice and men. Baillieres Clin Haematol. 1997 Dec; 10(4):725-37. PMID: 9497860.
      Citations: 3     Fields:    Translation:Animals
    43. Wagner KU, Young WS, Liu X, Ginns EI, Li M, Furth PA, Hennighausen L. Oxytocin and milk removal are required for post-partum mammary-gland development. Genes Funct. 1997 Nov; 1(4):233-44. PMID: 9678900.
      Citations: 37     Fields:    Translation:AnimalsCells
    44. Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res. 1997 Oct; 7(10):1020-6. PMID: 9331372.
      Citations: 36     Fields:    Translation:HumansCells
    45. Philibert RA, Egeland JA, Paul SM, Ginns EI. The inheritance of bipolar affective disorder: abundant genes coming together. J Affect Disord. 1997 Mar; 43(1):1-3. PMID: 9127824.
      Citations: 1     Fields:    Translation:Humans
    46. Young WS, Shepard E, Amico J, Hennighausen L, Wagner KU, LaMarca ME, McKinney C, Ginns EI. Deficiency in mouse oxytocin prevents milk ejection, but not fertility or parturition. J Neuroendocrinol. 1996 Nov; 8(11):847-53. PMID: 8933362.
      Citations: 63     Fields:    Translation:AnimalsCells
    47. Long GL, Winfield S, Adolph KW, Ginns EI, Bornstein P. Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics. 1996 Apr 15; 33(2):177-84. PMID: 8660965.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    48. Tayebi N, Herman J, Ginns EI, Sidransky E. Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C. Biochem Mol Med. 1996 Apr; 57(2):149-51. PMID: 8733893.
      Citations: 2     Fields:    Translation:HumansCells
    49. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CS, Pauls DL, Weissenbachoff J, Carulli JP, Falls KM, Keith TP, Paul SM. A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet. 1996 Apr; 12(4):431-5. PMID: 8630500.
      Citations: 22     Fields:    Translation:HumansCells
    50. Sidransky E, Ginns EI. Genetic basis of Gaucher disease. J Pediatr. 1995 Sep; 127(3):510. PMID: 7658291.
      Citations: 1     Fields:    Translation:Humans
    51. Sidransky E, Tayebi N, Ginns EI. Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling. Clin Pediatr (Phila). 1995 Jul; 34(7):365-71. PMID: 7554686.
      Citations:    Fields:    Translation:Humans
    52. Adolph KW, Long GL, Winfield S, Ginns EI, Bornstein P. Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics. 1995 May 20; 27(2):329-36. PMID: 7558000.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    53. Bornstein P, McKinney CE, LaMarca ME, Winfield S, Shingu T, Devarayalu S, Vos HL, Ginns EI. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A. 1995 May 09; 92(10):4547-51. PMID: 7753840.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    54. Philibert RA, Hawkins GA, Damschroder-Williams P, Stubblefield BK, Martin BM, Ginns EI. Direct sequencing of trinucleotide repeats from cosmid genomic DNA template. Anal Biochem. 1995 Mar 01; 225(2):372-4. PMID: 7762809.
      Citations:    Fields:    Translation:HumansCells
    55. Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE, Elias PM, Sidransky E. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest. 1994 Apr; 93(4):1756-64. PMID: 8163674.
      Citations: 76     Fields:    Translation:HumansAnimals
    56. Sidransky E, Ginns EI. Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling. J Genet Couns. 1994 Mar; 3(1):13-22. PMID: 24233795.
      Citations: 1     Fields:    
    57. Sidransky E, Bottler A, Stubblefield B, Ginns EI. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat. 1994; 3(1):25-8. PMID: 8118463.
      Citations: 12     Fields:    Translation:Humans
    58. Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI. A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. Gene. 1993 Dec 22; 136(1-2):365-8. PMID: 8294033.
      Citations: 4     Fields:    Translation:HumansCells
    59. Hiraiwa M, O'Brien JS, Kishimoto Y, Galdzicka M, Fluharty AL, Ginns EI, Martin BM. Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins). Arch Biochem Biophys. 1993 Jul; 304(1):110-6. PMID: 8323276.
      Citations: 21     Fields:    Translation:HumansCells
    60. Sidransky E, Martin B, Ginns EI. Treatment of Gaucher's disease. N Engl J Med. 1993 May 27; 328(21):1566; author reply 1567. PMID: 8479500.
      Citations:    Fields:    Translation:Humans
    61. Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res. 1992 Oct; 32(4):494-8. PMID: 1437405.
      Citations: 41     Fields:    Translation:HumansAnimals
    62. Ginns EI, Egeland JA, Allen CR, Pauls DL, Falls K, Keith TP, Paul SM. Update on the search for DNA markers linked to manic-depressive illness in the Old Order Amish. J Psychiatr Res. 1992 Oct; 26(4):305-8. PMID: 1362775.
      Citations: 2     Fields:    Translation:HumansCells
    63. Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI. DNA mutation analysis of Gaucher patients. Am J Med Genet. 1992 Feb 01; 42(3):331-6. PMID: 1536173.
      Citations: 12     Fields:    Translation:HumansCells
    64. Sidransky E, Ginns EI, Frenkel E, Benear JB. Anemic Gaucher patients with elevated endogenous erythropoietin levels may not respond to recombinant erythropoietin therapy. Blood. 1992 Jan 15; 79(2):532-3. PMID: 1730096.
      Citations:    Fields:    Translation:Humans
    65. Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI. Gaucher patients with oculomotor abnormalities do not have a unique genotype. Clin Genet. 1992 Jan; 41(1):1-5. PMID: 1633639.
      Citations: 8     Fields:    Translation:HumansCells
    66. Tanaka H, Ishikawa A, Ginns EI, Miyatake T, Tsuji S. Linkage analysis of juvenile parkinsonism to tyrosine hydroxylase gene locus on chromosome 11. Neurology. 1991 May; 41(5):719-22. PMID: 1674118.
      Citations: 4     Fields:    Translation:HumansCells
    67. Freed WJ, Poltorak M, Takashima H, LaMarca ME, Ginns EI. Brain grafts and Parkinson's disease. J Cell Biochem. 1991 Mar; 45(3):261-7. PMID: 2066376.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    68. Montpied P, Morrow AL, Karanian JW, Ginns EI, Martin BM, Paul SM. Prolonged ethanol inhalation decreases gamma-aminobutyric acidA receptor alpha subunit mRNAs in the rat cerebral cortex. Mol Pharmacol. 1991 Feb; 39(2):157-63. PMID: 1705000.
      Citations: 18     Fields:    Translation:AnimalsCells
    69. Sidransky E, Maysak K, Ginns EI. Mutations in Gaucher's disease detected by MspI. Lancet. 1990 Sep 08; 336(8715):628-9. PMID: 1975396.
      Citations:    Fields:    Translation:Humans
    70. Freed WJ, Geller HM, Poltorak M, Cannon-Spoor HE, Cottingham SL, LaMarca ME, Schultzberg M, Rehavi M, Paul S, Ginns EI. Genetically altered and defined cell lines for transplantation in animal models of Parkinson's disease. Prog Brain Res. 1990; 82:11-21. PMID: 1981273.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    71. Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G, et al. Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature. 1989 Nov 16; 342(6247):238-43. PMID: 2682265.
      Citations: 57     Fields:    Translation:HumansCells
    72. Hamid QA, Bishop AE, Springall DR, Adams C, Polak JM, Quaba AA, al Nafussi AA, Marangos PJ, Ginns E. Neuron-specific enolase and its mRNA are highly expressed in large congenital nevi: a study using immunocytochemistry, biochemical assay, and in situ hybridization. J Mol Neurosci. 1989; 1(2):85-91. PMID: 2641280.
      Citations: 1     Fields:    Translation:HumansCells
    73. Montpied P, Martin BM, Cottingham SL, Stubblefield BK, Ginns EI, Paul SM. Regional distribution of the GABAA/benzodiazepine receptor (alpha subunit) mRNA in rat brain. J Neurochem. 1988 Nov; 51(5):1651-4. PMID: 2844998.
      Citations: 10     Fields:    Translation:AnimalsCells
    74. Kelsoe JR, Stubblefield BK, Ginns EI. Human tyrosine hydroxylase (TH) genomic fragment (pHGTH4) identifies a PstI polymorphism. Nucleic Acids Res. 1988 Aug 11; 16(15):7760. PMID: 2901074.
      Citations: 3     Fields:    Translation:HumansCells
    75. Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci U S A. 1988 Apr; 85(7):2349-52. PMID: 3353383.
      Citations: 51     Fields:    Translation:HumansCells
    76. Aerts JM, Schram AW, Strijland A, van Weely S, Jonsson LM, Tager JM, Sorrell SH, Ginns EI, Barranger JA, Murray GJ. Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation. Biochim Biophys Acta. 1988 Mar 17; 964(3):303-8. PMID: 3349099.
      Citations: 21     Fields:    Translation:HumansCells
    77. Martin BM, Tsuji S, LaMarca ME, Maysak K, Eliason W, Ginns EI. Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. DNA. 1988 Mar; 7(2):99-106. PMID: 3282855.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    78. Ionasescu V, Burns T, Ionasescu R, Searby C, Ginns E. Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. Cytogenet Cell Genet. 1988; 47(3):173-4. PMID: 3163969.
      Citations:    Fields:    Translation:Humans
    79. Kim YS, Thomas JW, Tillakaratne NJ, Montpied P, Suzdak PD, Banner C, Ginns E, Tobin AJ, Paul SM. Glutamic acid decarboxylase mRNA in rat brain: regional distribution and effects of intrastriatal kainic acid. Brain Res. 1987 Dec; 427(1):77-82. PMID: 2448011.
      Citations: 2     Fields:    Translation:AnimalsCells
    80. Tsuji S, Martin BM, Kaslow DC, Migeon BR, Choudary PV, Stubbleflied BK, Mayor JA, Murray GJ, Barranger JA, Ginns EI. Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. Eur J Biochem. 1987 Jun 01; 165(2):275-80. PMID: 3036505.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    81. Jonsson LM, Murray GJ, Sorrell SH, Strijland A, Aerts JF, Ginns EI, Barranger JA, Tager JM, Schram AW. Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem. 1987 Apr 01; 164(1):171-9. PMID: 3549301.
      Citations: 31     Fields:    Translation:HumansCells
    82. Willemsen R, van Dongen JM, Ginns EI, Sips HJ, Schram AW, Tager JM, Barranger JA, Reuser AJ. Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry. J Neurol. 1987 Jan; 234(1):44-51. PMID: 3819786.
      Citations: 9     Fields:    Translation:HumansCells
    83. Choudary PV, Barranger JA, Tsuji S, Mayor J, LaMarca ME, Cepko CL, Mulligan RC, Ginns EI. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts. Mol Biol Med. 1986 Jun; 3(3):293-9. PMID: 3736391.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    84. Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger JA, Ginns EI. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem. 1986 Jan 05; 261(1):50-3. PMID: 3001061.
      Citations: 22     Fields:    Translation:HumansCells
    85. Choudary PV, Tsuji S, Martin BM, Guild BC, Mulligan RC, Murray GJ, Barranger JA, Ginns EI. The molecular biology of Gaucher disease and the potential for gene therapy. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 2:1047-52. PMID: 3472751.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    86. Rappeport JM, Barranger JA, Ginns EI. Bone marrow transplantation in Gaucher disease. Birth Defects Orig Artic Ser. 1986; 22(1):101-9. PMID: 3516238.
      Citations: 3     Fields:    Translation:HumansCells
    87. van Dongen JM, Willemsen R, Ginns EI, Sips HJ, Tager JM, Barranger JA, Reuser AJ. The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study. Eur J Cell Biol. 1985 Nov; 39(1):179-89. PMID: 2935398.
      Citations: 14     Fields:    Translation:HumansCells
    88. Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, Hozier J, Barranger JA. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A. 1985 Oct; 82(20):7101-5. PMID: 3863141.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    89. Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med. 1984 Jul 12; 311(2):84-8. PMID: 6377066.
      Citations: 19     Fields:    Translation:HumansCells
    90. Pirruccello S, Barranger JA, Barton NW, Brady RO, Ginns EI. Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease. Biochem Med. 1984 Feb; 31(1):73-9. PMID: 6743300.
      Citations: 1     Fields:    Translation:HumansCells
    91. Barneveld RA, Tegelaers FP, Ginns EI, Visser P, Laanen EA, Brady RO, Galjaard H, Barranger JA, Reuser AJ, Tager JM. Monoclonal antibodies against human beta-glucocerebrosidase. Eur J Biochem. 1983 Aug 15; 134(3):585-9. PMID: 6192991.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    92. Ginns EI, Brady RO, Pirruccello S, Moore C, Sorrell S, Furbish FS, Murray GJ, Tager J, Barranger JA. Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci U S A. 1982 Sep; 79(18):5607-10. PMID: 6957882.
      Citations: 35     Fields:    Translation:HumansCells
    93. Ginns EI, Brady RO, Stowens DW, Furbish FS, Barranger JA. Glucocerebroside-beta-glucosidase isozymes. Prog Clin Biol Res. 1982; 95:405-14. PMID: 7122639.
      Citations:    Fields:    Translation:HumansCells
    94. Brady RO, Barranger JA, Furbish FS, Stowens DW, Ginns EI. Prospects for enzyme replacement therapy in Gaucher disease. Prog Clin Biol Res. 1982; 95:669-80. PMID: 7122643.
      Citations:    Fields:    Translation:Humans
    95. Ginns EI, Brady RO, Stowens DW, Furbish FS, Barranger JA. A new group of glucocerebrosidase isozymes found in human white blood cells. Biochem Biophys Res Commun. 1980 Dec 16; 97(3):1103-7. PMID: 7470138.
      Citations: 3     Fields:    Translation:HumansCells
    96. Ginns E, French J, Fleischman A, Cohen S. GM1 ganglioside concentration in the cerebrospinal fluid of neonates and children. Pediatr Res. 1980 Nov; 14(11):1276-7. PMID: 6161335.
      Citations:    Fields:    Translation:Humans
    97. Ginns E, French J. A radioassay for GM1 ganglioside concentration in cerebrospinal fluid. J Neurochem. 1980 Oct; 35(4):977-82. PMID: 7005403.
      Citations:    Fields:    Translation:Humans
    98. Ginns E, Guarnieri M. Trypsin bound to sephadex beads. A tool for neuronal cell dissociation. Exp Cell Res. 1976 Jan; 97:42-6. PMID: 173561.
      Citations: 1     Fields:    Translation:AnimalsCells
    99. Guarnieri M, Cohen SR, Ginns E. Cells isolated from trypsin-treated brain contain trypsin. J Neurochem. 1976 Jan; 26(1):41-4. PMID: 176319.
      Citations: 3     Fields:    Translation:AnimalsCells
    100. Rugh R, Ginns EI, Ho HS, Leach WM. Responses of the mouse to microwave radiation during estrous cycle and pregnancy. Radiat Res. 1975 May; 62(2):225-41. PMID: 1168356.
      Citations: 2     Fields:    Translation:Animals
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