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Thomas Jefferson University - David A. Wenger, Ph.D.
David A. Wenger, Ph.D.

Neurology
Thomas Jefferson University
Jefferson Medical College
Department of Neurology
Neurogenetics
Professor Appointed: 1998

Colorado State University
Veterinary Medicine and Biomedical Sciences
Pathology
Adjunct Professor Appointed: 1986

Thomas Jefferson University
Jefferson Medical College
Department of Biochemistry & Molecular Pharmacology
Professor

Mailing Address
1020 Locust Street, Room 394
Philadelphia, Pennsylvania 19107
United States
Contact Information
Phone: (215) 955-1666
Fax: (215) 955-9554
David.Wenger@jefferson.edu
Qualifications
B.S., Temple University - School of Pharmacy, Pharmacy, 1964

Ph.D., Temple University - School of Medicine, Biochemistry, 1968

Licensure, CLIA,

American College of Medical Genetics, American Board of Medical Genetics, Board Certification, Clinical Biochemical Genetics and Clinical Molecular Genetics

Expertise and Research Interests
Krabbe disease (KD) is an autosomal recessive lysosomal disorder caused by the deficiency of galactocerebrosidase (GALC) activity. This resultsin a severe, fatal disorder primarily affecting young children. While most patients die by 3 years of age, later onset forms, including adults are also diagnosed with KD. This laboratory has diagnosed nearly 400 patients of all ages with KD. We were the first laboratory to purify GALC and clone the GALC cDNA and gene. In addition to human patients with KD, there are three naturally occurring animal models with low GALC activity. Their GALC genes have also been cloned in this laboratory and the mutations causing the low GALC activity have been determined. We have identified nearly 60 mutations causing KD in the human patients available to us. At present we are developing methods to treat KD, starting initially with the animal models. We have placed human and mouse cDNAs into several viral vectors including retroviral, adeno-associated viruses, lentivirus and SV40. We have successfully transduced oligodendrocytes from the twitcher mice model with viral vectorrs containing human GALC cDNA and corrected them to a normal phenotype. We are now starting in vivo studies in mice. We have given the canine model bone marrow transplants and seen an amelioration of clinical features. At present we are investigating the role of growth factors and substrate inhibitors on the onset of symptoms in the mouse models. This studies will lead to a better understanding of the role of GALC in producing healthy myelin and provide information that will lead to effective treatment for this severe genetic disease.
Other Expertise

In addition to research related to specific genetic diseases, such as Krabbe disease and Niemann-Pick type C, Dr. Wenger directs the largest lysosomal storage diseases (LSD) testing laboratory in the world. LSD are a group of genetic disorders cause by mutations in genes that code for proteins required for the lysosomal catabolism of naturally occurring carbohydrates, proteins, and lipids. About 35 such disorders have been defined and over 20 are diagnosed in this laboratory. Samples are sent to this laboratory from around the world for help in diagnosing a patient with certain symptoms, for carrier testing and for prenatal testing. Most diagnostic tests are enzyme-based but others require the use of specific antibodies, tissue extraction, radio-labelled lipid loading or molecular analysis for known mutations. The experience of the research laboratory is brought to diagnostic laboratory in the form of new test development, and interesting patients can be studied in the research laboratory to help answer important questions regarding protein structure and function.

ACADEMIC APPOINTMENTS (1997-present):

Jefferson Medical College, Philadelphia, PA. September 1986 - November 1998, Professor of Medicine (Medical Genetics), and Biochemistry and Molecular Pharmacology

Director, Lysosomal Diseases Testing Laboratory. 1974-present

OTHER ACTIVITIES (1997-present)

Scientific Advisory Committee of the National Tay-Sachs and Allied Diseases Association

Advisor - United Leukodystrophy Foundation, Inc.

Editorial Board of Molecular Genetics and Metabolism (1991-present)

Scientific Advisory Board of the National Mucopolysaccharidosis Society

Scientific/Medical Advisory Committee of the Canavan Disease Foundation

Program Committee-American Society of Human Genetics (1994-1997)

NIH Board of Scientific Counselors; review of Intramural Research Programs at NIH, October 1997

Working Group of NIGMS Human Genetic Cell Repository, 2001-2004
Industrial Relevance
While individual Lysosomal Storage Diseases are relatively uncommon, as a group they make up about 1-5000 births in the United States. They represent a good model system, and they are the first group of diseases with FDA approved enzyme replacement therapy. Also, bone marrow transplantation is considered to be an accepted treatment for some disorders at this time. This will require early diagnosis before severe neurological damage has occurred. Many companies consider LSD the prototypes for other genetic diseases that they hope to treat in the future.
Keywords
Allele; Animal Models; Bone Marrow Transplantation; Cerebroside; Complementary Dna; Diabetes; Digestive Diseases And Disorders; Digestive System; Enzyme Activity; Enzyme Biosynthesis; Galactocerebrosidase; Gene Expression; Gene Mutation; Gene Therapy; Genetic Disorder Diagnosis; Globoid Cell Leukodystrophy; Igf-1; Kidney (Renal) Functions; Kidney Disease; Krabbe Disease; Leukodystrophy; Lysosomal Storage Diseases; Molecular Cloning; Molecular Pathology; Mutation Analysis; Myelin; Nucleic Acid Hybridization; Nucleic Acid Sequence; Polymerase Chain Reaction; Prenatal Diagnosis; Protein Metabolism; Protein Purification; Psychosine; Tissue Cell Culture; Transgenic Mouse; Twitcher Mouse; Urology; Viral Vectors
Publications
  • De Stefano N, Dotti MT, Mortilla M, Pappagallo E, Luzi P, Rafi MA, Formichi P, Inzitari D, Wenger DA, and Federico A: Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an typical form of adult-onset Krabbe disease. J Neurol 247:226-228, 2000.

  • Wenger DA, Rafi MA, Luzi P, Datto J and Costantino-Ceccarini E: Krabbe disease:genetic aspects and progress toward therapy. Mol Genet Metab 70:1-9, 2000.

  • Schultheiss PC, Gardner SA, Owens JM, Wenger DA and Thrall MA: Mucopolysaccharidosis VII in a cat. Vet Pathol 37:502-505, 2000.

  • Farina L, Bizzi A, Finocchiaro G, Pareyson D, Sghirlanzoni A, Bertagnolio B, Savoiardo M, Naidu S, Singhal BS and Wenger DA: MR imaging and MR spectroscopy in adult Krabbe disease. Am J Neuroradiol 21:1478-1482, 2000 .

  • Uc EY, Wenger DA and Jankovic J: Niemann-Pick disease Type C: Two cases and an update. Movement Disorders 15:1199-1203, 2000.

  • Wenger DA: Murine, canine and non-human primate models of Krabbe disease. Molec Med Today 6:449-451, 2000.

  • Millat G, Marcais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K and Vanier MT: Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Hum Genet 68:1373-1385, 2001.

  • Luzi P, Rafi MA, Zaka M, Curtis M, Vanier MT and Wenger DA: Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Molec Genet Metab 73:211-223, 2001.

  • Luddi A, Volterrani M, Strazza M, Smorlesi A, Rafi MA, Datto J, Wenger DA and Costantino-Ceccarini E: Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction. Neurobiol Dis 8:600-610, 2001.

  • Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA and Packman S: Clinical course and biochemistry of sialuria. J Inherit Metab Dis 24:328-336, 2001.

  • Somers KL, Brown DE, Fulton R, Schultheiss PC, Hamar D, Smith MO, Allison R, Connally HE, Just C, Mitchell TW, Wenger DA and Thrall MA: Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease. J Inherit Metab Dis 24:427-436, 2001.

  • Sabatelli M, Quaranta L, Madia F, Lippi G, Conte A, Lo Monaco M, Di Trapani G, Rafi MA, Wenger DA, Vaccaro AM and Tonali P: Peripheral neuropathy with hypomyelination features in adult-onset Krabbes disease. Neuromusc Disord 12:386-391, 2002.

  • Yerushalmi B, Sokol RJ, Narkewicz MR, Smith D, Ashmead JW and Wenger DA: Niemann-Pick disease type C in neonatal cholestasis at a North American Center. J Pediatr Gastroenterol Nutr 35:44-50, 2002.

  • Wenger DA, Coppola S and Liu S-L: Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy. Genet Med 4:412-419, 2002.

  • Chattopadhyay S, Kriscenski-Perry E, Wenger DA and Pearce DA: An autoantiboby to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinosis. Neurology 59:1816-1817, 2002.

  • Wenger DA, Coppola S and Liu S-L: Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 60:322-328, 2003.

  • Rafi MA, Coppola S, Liu SL, Rao HZ and Wenger DA: Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compounds the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. Molec Genet Metab 79:83-90, 2003.

  • Somers KL, Royals MA, Carstea ED, Rafi MA and Wenger DA: Mutation analysis of feline Niemann-Pick C1 disease. Molec Genet Metab 79:99-103, 2003.

  • Parveen Z, Mukhtar M, Rafi M, Wenger DA, Siddiqqui KM, Siler CA, Dietzschold B, Pomerantz RJ, Schnell MJ and Dornburg R: Cell-type-specific gene delivery into neuronal cells in vitro and in vivo. Virology 314:74-83, 2003

  • Luzi P, Zaka M, Rao HZ, Curtis M, Rafi MA and Wenger DA: Generation of transgenic mice expressing insulin-like growth-1 (IGF-1) under the control of the myelin basic protein promoter: increased myelination and potential for studies on the effects of increased IGF-1 on experimentally and genetically induced demyelination. Neurochem Res 29:881-889,2004.

  • Zaka P and Wenger DA: Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by capase activation. Neurosci Lett 358:205-209, 2004.

  • Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ, Krivit W and Kurtzberg J: Cord-blood transplants from unrelated donors in patients with Hurlers syndrome. New Engl J Med 350:1960-1969, 2004.

  • Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE and Peters C: Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr 144:569-573, 2004.

  • Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA and Gahl WA: Clinical, biochemical and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Molec Genet Metab 82:137-143, 2004.

  • Rafi MA, Rao HZ, Passini MA, Curtis M, Vanier MT, Zaka M, Luzi P, Wolfe JH and Wenger DA: AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. Molec Ther 11:734-744, 2005

  • Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W and Kurtzberg J: Transplantation of umbilical-cord blood in babies with infantile Krabbes disease. New Engl J Med 352:2069-2081, 2005.

  • Walkley SU, Tharll MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S and Seim H: Abnormal neuronal metabolism and storage in mucopolysaccharosis type VI (Maroteaux-Lamy) disease. Neuropath Appl Neurobiol 31:536-544, 2005.

  • Luzi P, Rafi MA, Zaka M, Rao HZ, Curtis M, Vanier MT and Wenger DA: Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. Molec Genet Metab 86:150-159, 2005.

  • Lin D, Fantz CR, Levy B, Rafi MA, Vogler C, Wenger DA and Sands MS: AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiency than AAV2. Molec Ther 12:422-430, 2005.

  • McGowan JC, Haskins M, Wenger DA, Vite C. Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: preliminary results. Journal of Computer Assisted Tomography. 24(2): 316-21, 2000

  • Wenger DA. Murine, canine and non-human primate models of Krabbe disease. Molecular Medicine Today. 6(11): 449-51, Nov 2000

  • Farina L, Bizzi A, Finocchiaro G, Pareyson D, Sghirlanzoni A, Bertagnolio B, Savoiardo M, Naidu S, Singhal BS, Wenger DA. MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR American Journal of Neuroradiology. 21(8): 1478-82, Sep 2000

  • Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E. Krabbe disease: genetic aspects and progress toward therapy. Molecular Genetics and Metabolism. 70(1): 1-9, May 2000

  • De Stefano N, Dotti MT, Mortilla M, Pappagallo E, Luzi P, Rafi MA, Formichi P, Inzitari D, Wenger DA, Federico A. Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease [letter]. Journal of Neurology. 247(3): 226-8, Mar 2000

  • Wenger DA, Victoria T, Rafi MA, Luzi P, Vanier MT, Vite C, Patterson DF, Haskins MH. Globoid cell leukodystrophy in cairn and West Highland white terriers. Journal of Heredity. 90(1): 138-42, 1999

  • Millat G, Marcais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT. Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. American Journal of Human Genetics. 65(5): 1321-9, Nov 1999

  • Jardim LB, Giugliani R, Pires RF, Haussen S, Burin MG, Rafi MA, Wenger DA. Protracted course of Krabbe disease in an adult patient bearing a novel mutation. Archives of Neurology. 56(8): 1014-7, Aug 1999

  • Costantino-Ceccarini E, Luddi A, Volterrani M, Strazza M, Rafi MA, Wenger DA. Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC) cDNA. Neurochemical Research. 24(2): 287-93, Feb 1999

  • Somers KL, Wenger DA, Royals MA, Carstea ED, Connally HE, Kelly T, Kimball R, Thrall MA. Complementation studies in human and feline Niemann-Pick type C disease. Molecular Genetics and Metabolism. 66(2): 117-21, Feb 1999

  • Baskin GB, Ratterree M, Davison BB, Falkenstein KP, Clarke MR, England JD, Vanier MT, Luzi P, Rafi MA, Wenger DA. Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). Laboratory Animal Science. 48(5): 476-82, Oct 1998

  • Cozzi F, Vite CH, Wenger DA, Victoria T, Haskins ME. MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy. Journal of Small Animal Practice. 39(8): 401-5, Aug 1998

  • Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, Kolodny EH, Vanier MT, Loes DJ, Dusenbery K, Lockman LA. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. New England Journal of Medicine. 338(16): 1119-26, Apr 1998

  • Luzi P, Victoria T, Rafi MA, Wenger DA. Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene. Biochemical and Molecular Medicine. 62(2): 159-64, Dec 1997

  • Kleijer WJ, Keulemans JL, van der Kraan M, Geilen GG, van der Helm RM, Rafi MA, Luzi P, Wenger DA, Halley DJ, van Diggelen OP. Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. Journal of Inherited Metabolic Disease. 20(4): 587-94, Aug 1997

  • Luzi P, Rafi MA, Victoria T, Baskin GB, Wenger DA. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics. 42(2): 319-24, Jun 1997

  • Bambach BJ, Moser HW, Blakemore K, Corson VL, Griffin CA, Noga SJ, Perlman EJ, Zuckerman R, Wenger DA, Jones RJ. Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy. Bone Marrow Transplantation. 19(4): 399-402, Feb 1997

  • Wenger DA, Rafi MA, Luzi P. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Human Mutation. 10(4): 268-79, 1997

  • Smith MO, Wenger DA, Hill SL, Matthews J. Fucosidosis in a family of American-bred English Springer Spaniels. Journal of the American Veterinary Medical Association. 209(12): 2088-90, Dec 1996

  • Rafi MA, Fugaro J, Amini S, Luzi P, de Gala G, Victoria T, Dubell C, Shahinfar M, Wenger DA. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells. Biochemical and Molecular Medicine. 58(2): 142-50, Aug 1996

  • Luzi P, Rafi MA, Wenger DA. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. Annals of Neurology. 40(1): 116-9, Jul 1996

  • Victoria T, Rafi MA, Wenger DA. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics. 33(3): 457-62, May 1996

  • Rafi MA, Luzi P, Zlotogora J, Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Human Genetics. 97(3): 304-8, Mar 1996

  • Hess B, Kafert S, Heinisch U, Wenger DA, Zlotogora J, Gieselmann V. Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. Human Mutation. 7(4): 311-7, 1996

  • Brown DE, Thrall MA, Walkley SU, Wurzelmann S, Wenger DA, Allison RW, Just CA. Metabolic abnormalities in feline Niemann-Pick type C heterozygotes. Journal of Inherited Metabolic Disease. 19(3): 319-30, 1996

  • Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Kahler SG. Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. Pediatric Pathology and Laboratory Medicine. 15(3): 443-53, 1995

  • Rafi MA; Luzi P; Chen YQ; Wenger DA. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Human Molecular Genetics. 4(8): 1285-9, 1995

  • Luzi P, Rafi MA, Wenger DA. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Human Molecular Genetics. 4(12): 2335-8, Dec 1995

  • Zhou XY, Morreau H, Rottier R, Davis D, Bonten E, Gillemans N, Wenger D, Grosveld FG, Doherty P, Suzuki K, et al. Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells. Genes and Development. 9(21): 2623-34, Nov 1995

  • Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T. Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. Human Molecular Genetics. 4(4): 651-5, Apr 1995

  • Luzi P, Rafi MA, Wenger DA. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics. 26(2): 407-9, Mar 1995

  • Pastor-Soler NM, Schertz EM, Rafi MA, de Gala G, Wenger DA. Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies. Journal of Inherited Metabolic Disease. 18(3): 326-32, 1995

  • Munana KR, Luttgen PJ, Thrall MA, Mitchell TW, Wenger DA. Neurological manifestations of Niemann-Pick disease type C in cats. Journal of Veterinary Internal Medicine. 8(2): 117-21, 1994

  • Shahinfar M, Wenger DA. Adult and infantile Gaucher disease in one family: mutational studies and clinical update [see comments]. Journal of Pediatrics. 125(6 Pt 1): 919-21, Dec 1994

  • Chakraborty S, Rafi MA, Wenger DA. Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. American Journal of Human Genetics. 54(6): 1004-13, Jun 1994

  • Brown DE, Thrall MA, Walkley SU, Wenger DA, Mitchell TW, Smith MO, Royals KL, March PA, Allison RW. Feline Niemann-Pick disease type C. American Journal of Pathology. 144(6): 1412-5, Jun 1994

  • Cannizzaro LA, Chen YQ, Rafi MA, Wenger DA. Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenetics and Cell Genetics. 66(4): 244-5, 1994

  • Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene. Human Mutation. 4(3): 199-207, 1994

  • Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP. Molecular genetics of metachromatic leukodystrophy. Human Mutation. 4(4): 233-42, 1994

  • Oehlmann R, Zlotogora J, Wenger DA, Knowlton RG. Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. American Journal of Human Genetics. 53(6): 1250-5, Dec 1993

  • Chen YQ, Rafi MA, de Gala G, Wenger DA. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Human Molecular Genetics. 2(11): 1841-5, Nov 1993

  • Chen YQ, Wenger DA. Galactocerebrosidase from human urine: purification and partial characterization. Biochimica Et Biophysica Acta. 1170(1): 53-61, Sep 1993

  • Krasnewich DM, Tietze F, Krause W, Pretzlaff R, Wenger DA, Diwadkar V, Gahl WA. Clinical and biochemical studies in an American child with sialuria. Biochemical Medicine and Metabolic Biology. 49(1): 90-6, Feb 1993

  • Rafi MA, de Gala G, Zhang XL, Wenger DA. Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. Somatic Cell and Molecular Genetics. 19(1): 1-7, Jan 1993

  • Wenger DA. Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. Apmis. Supplementum. 40: 81-7, 1993

  • Phelan MC, Thomas GR, Saul RA, Rogers RC, Taylor HA, Wenger DA, McDermid HE. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. American Journal of Medical Genetics. 43(5): 872-6, Jul 1992

  • Rafi MA, Amini S, Zhang XL, Wenger DA. Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency. American Journal of Human Genetics. 50(6): 1252-8, Jun 1992

  • Bayever E, Kamani N, Ferreira P, Machin GA, Yudkoff M, Conard K, Palmieri M, Radcliffe J, Wenger DA, August CS. Bone marrow transplantation for Niemann-Pick type IA disease. Journal of Inherited Metabolic Disease. 15(6): 919-28, 1992

  • Zhang XL, Rafi MA, DeGala G, Wenger DA. The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy. Human Genetics. 87(2): 211-5, Jun 1991

  • Louie E, Rafi MA, Wenger DA. Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders. Clinica Chimica Acta. 199(1): 7-15, May 1991

  • Hu P, Wenger DA, van Diggelen OP, Kleijer WJ. Complementation studies in human and caprine beta-mannosidosis. Journal of Inherited Metabolic Disease. 14(1): 13-7, 1991

  • Wenger DA, Louie E. Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities. Developmental Neuroscience. 13(4-5): 216-21, 1991

  • Zlotogora J, Chakraborty S, Knowlton RG, Wenger DA. Krabbe disease locus mapped to chromosome 14 by genetic linkage. American Journal of Human Genetics. 47(1): 37-44, Jul 1990

  • Zhang XL, Rafi MA, DeGala G, Wenger DA. Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. Proceedings of the National Academy of Sciences (USA). 87(4): 1426-30, Feb 1990

  • Rafi MA, Zhang XL, DeGala G, Wenger DA. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. Biochemical and Biophysical Research Communications. 166(2): 1017-23, Jan 1990

  • Tjoa S, Wenger DA, Fennessey PV. Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients. Journal of Inherited Metabolic Disease. 13(2): 187-94, 1990

  • Lowenthal AC, Cummings JF, Wenger DA, Thrall MA, Wood PA, de Lahunta A. Feline sphingolipidosis resembling Niemann-Pick disease type C. Acta Neuropathologica. 81(2): 189-97, 1990

  • Wenger DA, DeGala G, Williams C, Taylor HA, Stevenson RE, Pruitt JR, Miller J, Garen PD, Balentine JD. Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency. American Journal of Medical Genetics. 33(2): 255-65, Jun 1989

  • O'Brien JS, Kretz KA, Dewji N, Wenger DA, Esch F, Fluharty AL. Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science. 241(4869): 1098-101, Aug 1988

  • Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clinical Genetics. 33(5): 331-48, May 1988

  • Allanson JE, Gemmill RM, Hecht BK, Johnsen S, Wenger DA. Deletion mapping of the beta-glucuronidase gene. American Journal of Medical Genetics. 29(3): 517-22, Mar 1988

  • Naidu S, Hofmann KJ, Moser HW, Maumenee IH, Wenger DA. Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot. Neuropediatrics. 19(1): 46-8, Feb 1988

  • Dewji NN, Wenger DA, O'Brien JS. Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor. Proceedings of the National Academy of Sciences (USA). 84(23): 8652-6, Dec 1987

  • Kao FT, Law ML, Hartz J, Jones C, Zhang XL, Dewji N, O'Brien JS, Wenger DA. Regional localization of the gene coding for sphingolipid activator protein SAP-1 on human chromosome 10. Somatic Cell and Molecular Genetics. 13(6): 685-8, Nov 1987

  • Baker HJ, Wood PA, Wenger DA, Walkley SU, Inui K, Kudoh T, Rattazzi MC, Riddle BL. Sphingomyelin lipidosis in a cat. Veterinary Pathology. 24(5): 386-91, Sep 1987

  • Grebner EE, Wenger DA. Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi. Prenatal Diagnosis. 7(6): 419-23, Jul 1987

  • Aerts JM, Donker-Koopman WE, van Laar C, Brul S, Murray GJ, Wenger DA, Barranger JA, Tager JM, Schram AW. Relationship between the two immunologically distinguishable forms of glucocerebrosidase in tissue extracts. European Journal of Biochemistry. 163(3): 583-9, Mar 1987

  • Baldinger S, Pierpont ME, Wenger DA. Pseudodeficiency of arylsulfatase A: a counseling dilemma. Clinical Genetics. 31(2): 70-6, Feb 1987

  • Hofman KJ, Naidu S, Moser HW, Maumenee IH, Wenger DA. Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency. Journal of Inherited Metabolic Disease. 10(3): 273-4, 1987

  • Kruth HS, Comly ME, Butler JD, Vanier MT, Fink JK, Wenger DA, Patel S, Pentchev PG. Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. Journal of Biological Chemistry. 261(35): 16769-74, Dec 1986

  • Pentchev PG, Kruth HS, Comly ME, Butler JD, Vanier MT, Wenger DA, Patel S. Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts. Journal of Biological Chemistry. 261(35): 16775-80, Dec 1986

  • Fujibayashi S, Wenger DA. Synthesis and processing of sphingolipid activator protein-2 (SAP-2) in cultured human fibroblasts. Journal of Biological Chemistry. 261(32): 15339-43, Nov 1986

  • Wenger DA, Sujansky E, Fennessey PV, Thompson JN. Human beta-mannosidase deficiency. New England Journal of Medicine. 315(19): 1201-5, Nov 1986

  • Lipson MH, O'Donnell J, Callahan JW, Wenger DA, Packman S. Ocular involvement in Niemann-Pick disease type B. Journal of Pediatrics. 108(4): 582-4, Apr 1986

  • Kotagal S, Wenger DA, Alcala H, Gomez C, Horenstein S. AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics. Neurology. 36(3): 438-40, Mar 1986

  • Fujibayashi S, Wenger DA. Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts. Biochimica Et Biophysica Acta. 875(3): 554-62, Feb 1986

  • Inui K, Wenger DA, Furukawa M, Suehara N, Yutaka Y, Okada S, Tanizawa O, Yabuuchi H. Prenatal diagnosis of GM2 gangliosidoses using a fluorogenic sulfated substrate. Clinica Chimica Acta. 154(2): 145-50, Jan 1986

  • Albouz S, Le Saux F, Wenger D, Hauw JJ, Baumann N. Modifications of sphingomyelin and phosphatidylcholine metabolism by tricyclic antidepressants and phenothiazines. Life Sciences. 38(4): 357-63, Jan 1986

  • Tamaru T, Fujibayashi S, Brown WR, Wenger DA. Immunocytochemical localization of sphingolipid activator protein-1, the sulfatide/GM1 ganglioside activator, to lysosomes in human liver and colon. Histochemistry. 86(2): 195-200, 1986

  • Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, Brady RO. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proceedings of the National Academy of Sciences (USA). 82(23): 8247-51, Dec 1985

  • Fujibayashi S, Kao FT, Jones C, Morse H, Law M, Wenger DA. Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10. American Journal of Human Genetics. 37(4): 741-8, Jul 1985

  • Fujibayashi S, Wenger DA. Studies on a sphingolipid activator protein (SAP-2) in fibroblasts from patients with lysosomal storage diseases, including Niemann-Pick disease Type C. Clinica Chimica Acta. 146(2-3): 147-56, Mar 1985

  • Charrow J, Inui K, Wenger DA. Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity. Clinical Genetics. 27(1): 78-84, Jan 1985

  • Wenger DA. Diagnosis of atypical patients with lipid storage diseases. Brain and Development. 7(2): 111-5, 1985

  • Inui K, Kao FT, Fujibayashi S, Jones C, Morse HG, Law ML, Wenger DA. The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10. Human Genetics. 69(3): 197-200, 1985

  • Inui K, Yutaka T, Okada S, Yabuuchi H, Wenger DA, Desnick RJ. Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate. Journal of Inherited Metabolic Disease. 8(3): 149-50, 1985

  • Gasper PW, Thrall MA, Wenger DA, Macy DW, Ham L, Dornsife RE, McBiles K, Quackenbush SL, Kesel ML, Gillette EL, et al. Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation. Nature. 312(5993): 467-9, Nov 1984

  • Inui K, Wenger DA. Biochemical, immunological, and structural studies on a sphingolipid activator protein (SAP-1). Archives of Biochemistry and Biophysics. 233(2): 556-64, Sep 1984

  • Ashwal S, Thrasher TV, Rice DR, Wenger DA. A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. Annals of Neurology. 16(2): 184-92, Aug 1984

  • Fujibayashi S, Inui K, Wenger DA. Activator protein-deficient metachromatic leukodystrophy: diagnosis in leukocytes using immunologic methods. Journal of Pediatrics. 104(5): 739-42, May 1984

  • Kudoh T, Velkoff MA, Wenger DA. Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases. Biochimica Et Biophysica Acta. 754(1): 82-92, Nov 1983

  • Inui K, Wenger DA. Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases. Journal of Clinical Investigation. 72(5): 1622-8, Nov 1983

  • Stevenson RE, Lubinsky M, Taylor HA, Wenger DA, Schroer RJ, Olmstead PM. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Pediatrics. 72(4): 441-9, Oct 1983

  • Inui K, Grebner EE, Jackson LG, Wenger DA. Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. American Journal of Human Genetics. 35(4): 551-64, Jul 1983

  • Wenger DA, Roth S, Kudoh T, Grover WD, Tucker SH, Kaye EM, Ullman MD. Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage. Pediatric Research. 17(5): 344-8, May 1983

  • Inui K, Emmett M, Wenger DA. Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy. Proceedings of the National Academy of Sciences (USA). 80(10): 3074-7, May 1983

  • Kudoh T, Wenger DA. Prenatal diagnosis of Krabbe disease: galactosylceramide metabolism in cultured amniotic fluid cells. Journal of Pediatrics. 101(5): 754-7, Nov 1982

  • Wenger DA, Sattler M, Roth S. A protein activator of galactosylceramide beta-galactosidase. Biochimica Et Biophysica Acta. 712(3): 639-49, Sep 1982

  • Snyder SP, Kingston RS, Wenger DA. Niemann-Pick disease. Sphingomyelinosis of Siamese cats. American Journal of Pathology. 108(2): 252-4, Aug 1982

  • Kudoh T, Wenger DA. Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. Journal of Clinical Investigation. 70(1): 89-97, Jul 1982

  • Inui K, Wenger DA. Properties of a protein activator of glycosphingolipid hydrolysis isolated from the liver of a patient with GM1 gangliosidosis, type 1. Biochemical and Biophysical Research Communications. 105(2): 745-51, Mar 1982

  • Wenger DA, Roth S, Sattler M. Acute neuronopathic (infantile) and chronic nonneuronopathic (adult) Gaucher disease in full siblings. Journal of Pediatrics. 100(2): 252-4, Feb 1982

  • Kudoh T, Sattler M, Malmstrom J, Bitter MA, Wenger DA. Metabolism of fatty acid-labeled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients. Use in the prenatal identification of a false positive fetus. Journal of Laboratory and Clinical Medicine. 98(5): 704-14, Nov 1981

  • Wenger DA, Kudoh T, Sattler M, Palmieri M, Yudkoff M. Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver. American Journal of Human Genetics. 33(3): 337-44, May 1981

  • Mueller OT, Wenger DA. Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis. Clinica Chimica Acta. 109(3): 313-24, Feb 1981

  • Ullman MD, Pyeritz RE, Moser HW, Wenger DA, Kolodny EH. Application of 'high-performance' liquid chromatography to the study of sphingolipidoses. Clinical Chemistry. 26(10): 1499-503, Sep 1980

  • Wenger DA, Sattler M, Kudoh T, Snyder SP, Kingston RS. Niemann-Pick disease: a genetic model in Siamese cats. Science. 208(4451): 1471-3, Jun 1980

  • Wenger DA, Sattler M, Mueller OT, Myers GG, Schneiman RS, Nixon GW. Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. Clinical Genetics. 17(5): 323-34, May 1980

  • Tanphaichitr VS, Suvatte V, Tuchinda S, Mahasandana C, Wenger DA. Niemann-Pick disease in association with homozygous hemoglobin E: a case report. Southeast Asian Journal of Tropical Medicine and Public Health. 10(4): 562-7, Dec 1979

  • Wenger DA, Wharton C, Seeds NW. Sphingomyelinase activities in neuronal cell cultures. Life Sciences. 24(8): 679-83, Feb 1979

  • Moffitt KD, Chambers JP, Diven WF, Glew RH, Wenger DA, Farrell DF. Characterization of lysosomal hydrolases that are elevated in Gaucher's disease. Archives of Biochemistry and Biophysics. 190(1): 247-60, Sep 1978

  • Chambers JP, Peters SP, Glew RH, Lee RE, McCafferty LR, Mercer DW, Wenger DA. Multiple forms of acid phosphatase activity in Gaucher's disease. Metabolism: Clinical and Experimental. 27(7): 801-14, Jul 1978

  • Wenger DA, Tarby TJ, Wharton C. Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies. Biochemical and Biophysical Research Communications. 82(2): 589-95, May 1978

  • Grover WD, Tucker SH, Wenger DA. Clinical variation in 2 related children with neuronopathic Gaucher disease. Annals of Neurology. 3(3): 281-3, Mar 1978

  • Wenger DA, Clark C, Sattler M, Wharton C. Synthetic substrate beta-glucosidase activity in leukocytes: a reproducible method for the identification of patients and carriers of Gaucher's disease. Clinical Genetics. 13(2): 145-53, Feb 1978

  • Chiao YB, Chambers JP, Glew RH, Lee RE, Wenger DA. Subcellular localization of the heat-stable glucocerebrosidase activator substance in Gaucher spleen. Archives of Biochemistry and Biophysics. 186(1): 42-51, Feb 1978

  • Wenger DA, Wharton C, Sattler M, Clark C. Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities. American Journal of Medical Genetics. 2(4): 345-56, 1978

  • Wenger DA, Barth G, Githens JH. Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. American Journal of Diseases of Children. 131(9): 955-61, Sep 1977

  • Kornfeld M, Snyder RD, Wenger DA. Fucosidosis with angiokeratoma. Electron microscopic changes in the skin. Archives of Pathology and Laboratory Medicine. 101(9): 478-85, Sep 1977

  • Peters SP, Coffee CJ, Glew RH, Lee RE, Wenger DA, Li SC, Li YT. Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease. Archives of Biochemistry and Biophysics. 183(1): 290-7, Sep 1977

  • Wenger DA, Sattler M, Clark C, Wharton C. I-cell disease: activities of lysosomal enzymes toward natural and synthetic substrates. Life Sciences. 19(3): 413-20, Aug 1976

  • Wenger DA, Riccardi VM. Possible misdiagnosis of Krabbe disease. Journal of Pediatrics. 88(1): 76-9, Jan 1976

  • Wenger da, Sattler M, Clark C. Effect of bile salts on lactosylceramide beta-galactosidase activities in human brain, liver and cultured skin fibroblasts. Biochimica Et Biophysica Acta. 409(3): 297-303, Dec 1975

  • Wenger DA, Sattler M, Clark C, Tanaka H, Suzuki K, Dawson G. Lactosyl ceramidosis: normal activity for two lactosyl ceramide beta-galactosidases. Science. 188(4195): 1310-2, Jun 1975

  • Alhadeff JA, Miller AL, Wenger DA, O'Brien JS. Electrophoretic forms of human liver alpha-L-fucosidase and their relationship to fucosidosis (mucopolysaccharidosis F). Clinica Chimica Acta. 57(3): 307-13, Dec 1974

  • Wenger DA. Studies on galactosyl ceramide and lactosyl ceramide beta-galactosidase. Chemistry and Physics of Lipids. 13(4): 327-9, Dec 1974

  • Wenger DA, Goodman SI, Myers GG. Letter: Beta-galactosidase deficiency in young adults. Lancet. 2(7892): 1319-20, Nov 1974

  • Wenger DA, Sattler M, Clark C, McKelvey H. An improved method for the identification of patients and carriers of Krabbe's disease. Clinica Chimica Acta. 56(2): 199-206, Oct 1974

  • Markey SP, Wenger DA. Mass spectra of complex molecules. I. Chemical ionization of sphingolipids. Chemistry and Physics of Lipids. 12(3): 182-200, May 1974

  • Wenger DA, Sattler M, Hiatt W. Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase. Proceedings of the National Academy of Sciences (USA). 71(3): 854-7, Mar 1974

  • Wenger DA, Satter M, Markey JP. Deficiency of monogalactosyl diglycerid beta-B-galactosidase activity in krabbe's disease. Biochemical and Biophysical Research Communications. 53(2): 680-5, Jul 1973

  • Wenger DA, Okada S, O'Brien JS. Studies on the substrate specificity of hexosaminidase A and B from liver. Archives of Biochemistry and Biophysics. 153(1): 116-29, Nov 1972

  • Wenger DA, Wardell S. Action of neuraminidase from Clostridium perfringens of Tay-Sachs ganglioside. Physiological Chemistry and Physics. 4(3): 224-30, 1972

  • Wenger DA, Subba Rao K, Pieringer RA. The metabolism of glyceride glycolipids. 3. Biosynthesis of digalactosyl diglyceride by galactosyl transferase pathways. Journal of Biological Chemistry. 245(10): 2513-9, May 1970

  • Subba Rao K, Wenger DA, Pieringer RA. The metabolism of glyceride glycolipids. IV. Enzymatic hydrolysis of monogalactosyl and digalactosyl diglycerides in rat brain. Journal of Biological Chemistry. 245(10): 2520-4, May 1970

  • Wenger DA, Petitpas JW, Pieringer RA. The metabolism of glyceride glycolipids. II. Biosynthesis of monogalactosyl diglyceride from uridine diphosphate galactose and diglyceride in brain. Biochemistry. 7(10): 3700-7, Oct 1968

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